Phenotypes,Definition
HP:0000001,All
HP:0000002,"""Deviation from the norm of height with respect to that which is expected according to age and gender norms."" [HPO:probinson]"
HP:0000003,"""Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional."" [HPO:curators]"
HP:0000005,"""The pattern in which a particular genetic trait or disorder is passed from one generation to the next."" [HPO:probinson]"
HP:0000006,"""A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele."" [HPO:curators]"
HP:0000007,"""A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)."" [HPO:probinson]"
HP:0000008,"""An abnormality of the female internal genitalia."" [HPO:probinson]"
HP:0000009,"""Dysfunction of the urinary bladder."" [HPO:probinson]"
HP:0000010,"""Repeated infections of the urinary tract."" [HPO:probinson]"
HP:0000011,"""A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention."" [HPO:probinson, PMID:18095004, PMID:22400020]"
HP:0000012,"""Urge incontinence is the strong, sudden need to urinate."" [HPO:probinson, PMID:12559262]"
HP:0000013,"""Underdevelopment of the uterus."" [HPO:probinson]"
HP:0000014,"""An abnormality of the urinary bladder."" [HPO:probinson]"
HP:0000015,"""Diverticulum (sac or pouch) in the wall of the urinary bladder."" [HPO:probinson]"
HP:0000016,"""Inability to completely empty the urinary bladder during the process of urination."" [HPO:probinson]"
HP:0000017,"""Abnormally increased production of urine during the night leading to an unusually frequent need to urinate."" [HPO:sdoelken]"
HP:0000019,"""Difficulty in beginning the process of urination."" [HPO:probinson]"
HP:0000020,"""Loss of the ability to control the urinary bladder leading to involuntary urination."" [HPO:sdoelken, PMID:12559262]"
HP:0000021,"""Dilatation of the bladder postnatally."" [HPO:probinson]"
HP:0000022,"""An abnormality of the male internal genitalia."" [HPO:probinson]"
HP:0000023,"""Protrusion of the contents of the abdominal cavity through the inguinal canal."" [HPO:probinson]"
HP:0000024,"""The presence of inflammation of the prostate."" [HPO:probinson]"
HP:0000025,Functional abnormality of male internal genitalia
HP:0000026,"""Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis."" [HPO:probinson]"
HP:0000027,"""Absence of any measurable level of sperm in his semen."" [HPO:probinson, PMID:20514278]"
HP:0000028,"""Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum."" [HPO:probinson, PMID:23650202]"
HP:0000029,"""Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility."" [HPO:probinson]"
HP:0000030,"""The presence of a gonadoblastoma of the testis."" [HPO:probinson]"
HP:0000031,"""The presence of inflammation of the epididymis."" [HPO:probinson]"
HP:0000032,"""An abnormality of male external genitalia."" [HPO:probinson]"
HP:0000033,"""Ambiguous genitalia in an individual with XY genetic gender."" [HPO:probinson]"
HP:0000034,"""Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis."" [PMID:32644551]"
HP:0000035,"""An anomaly of the testicle (the male gonad)."" [HPO:probinson]"
HP:0000036,"""Abnormality of the male external sex organ."" []"
HP:0000037,"""Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes."" [HPO:curators]"
HP:0000039,"""Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias."" [HPO:probinson, PMID:23650202, PMID:33085327]"
HP:0000040,"""Penile length more than 2 SD above the mean for age."" []"
HP:0000041,"""Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees."" [HPO:probinson, PMID:23650202]"
HP:0000042,"""Lack of external genitalia in a male or female individual."" [HPO:probinson]"
HP:0000044,"""Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)."" [HPO:probinson, PMID:23503957]"
HP:0000045,Abnormality of the scrotum
HP:0000046,"""Apparently small scrotum for age."" [PMID:23650202]"
HP:0000047,"""Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum."" [HPO:probinson, PMID:21968448]"
HP:0000048,"""Midline indentation or cleft of the scrotum."" [HPO:probinson, PMID:23650202]"
HP:0000049,"""Superior margin of the scrotum superior to the base of the penis."" [HPO:probinson, PMID:23650202]"
HP:0000050,"""Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)."" [HPO:probinson]"
HP:0000051,"""Hypospadias with location of the urethral meatus in the perineal region."" [HPO:probinson, PMID:8097257]"
HP:0000052,"""Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males."" [HPO:probinson]"
HP:0000053,"""The presence of abnormally large testes."" [HPO:probinson]"
HP:0000054,"""Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm."" [HPO:probinson, PMID:15102623]"
HP:0000055,"""An abnormality of the female external genitalia."" [HPO:probinson]"
HP:0000056,"""An abnormality of the clitoris."" [HPO:probinson]"
HP:0000058,"""An anomaly of the labia, the externally visible portions of the vulva."" [HPO:probinson]"
HP:0000059,"""Undergrowth of the outer labia."" [HPO:probinson]"
HP:0000060,"""Developmental hypoplasia of the clitoris."" [HPO:probinson]"
HP:0000061,"""Ambiguous genitalia in an individual with XX genetic gender."" [HPO:probinson]"
HP:0000062,"""A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4."" [HPO:probinson, PMID:15102623]"
HP:0000063,"""Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction."" [HPO:curators]"
HP:0000064,Hypoplastic labia minora
HP:0000065,Labial hypertrophy
HP:0000066,Labial hypoplasia
HP:0000067,"""Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females."" [HPO:probinson]"
HP:0000068,"""Congenital anomaly characterized by closure or failure to develop an opening in the urethra."" [HPO:probinson]"
HP:0000069,"""An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder."" [HPO:probinson]"
HP:0000070,"""A ureterocele is a congenital saccular dilatation of the distal segment of the ureter."" [eMedicine:453993]"
HP:0000071,"""The presence of a stenotic, i.e., constricted ureter."" [HPO:probinson]"
HP:0000072,"""The distention of the ureter with urine."" [HPO:probinson, PMID:33085364]"
HP:0000073,"""A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder."" [HPO:curators]"
HP:0000074,"""Blockage of urine flow from the renal pelvis to the proximal ureter."" [Eurenomics:ewuehl]"
HP:0000075,"""A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters."" [HPO:probinson]"
HP:0000076,"""Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes."" [HPO:probinson]"
HP:0000077,"""An abnormality of the kidney."" [HPO:probinson]"
HP:0000078,"""An abnormality of the genital system."" [HPO:probinson]"
HP:0000079,"""An abnormality of the urinary system."" [HPO:probinson]"
HP:0000080,"""An abnormal functionality of the genital system."" [HPO:probinson]"
HP:0000081,"""A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice."" [HPO:probinson]"
HP:0000083,"""A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism."" [HPO:probinson]"
HP:0000085,"""A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline."" [HPO:probinson]"
HP:0000086,"""A developmental defect in which a kidney is located in an abnormal anatomic position."" [HPO:probinson]"
HP:0000089,"""Hypoplasia of the kidney."" [HPO:probinson]"
HP:0000090,"""Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis."" [Eurenomics:fschaefer]"
HP:0000091,"""An abnormality of the renal tubules."" [HPO:probinson]"
HP:0000092,"""The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules."" [HPO:probinson, PMID:27211375]"
HP:0000093,"""Increased levels of protein in the urine."" [HPO:probinson]"
HP:0000095,"""A structural anomaly of the glomerulus."" [Eurenomics:ewuehl, PMID:18184729]"
HP:0000096,"""Accumulation of scar tissue within the glomerulus."" [Eurenomics:fschaefer]"
HP:0000097,"""Segmental accumulation of scar tissue in individual (but not all) glomeruli."" [Eurenomics:fschaefer, PMID:16164633]"
HP:0000098,"""A height above that which is expected according to age and gender norms."" [HPO:probinson]"
HP:0000099,"""Inflammation of the renal glomeruli."" [HPO:probinson]"
HP:0000100,"""Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia."" [HPO:probinson]"
HP:0000103,"""An increased rate of urine production."" [HPO:probinson]"
HP:0000104,"""Agenesis, that is, failure of the kidney to develop during embryogenesis and development."" [HPO:probinson]"
HP:0000105,"""An abnormal increase in the size of the kidney."" [HPO:probinson]"
HP:0000107,"""A fluid filled sac in the kidney."" [Eurenomics:fschaefer]"
HP:0000108,"""The presence of multiple cysts at the border between the renal cortex and medulla."" [HPO:probinson]"
HP:0000110,"""The presence of developmental dysplasia of the kidney."" [HPO:probinson]"
HP:0000111,"""Increased number and size of the juxtaglomerular cells."" [Eurenomics:ewuehl]"
HP:0000112,"""A nonspecific term referring to disease or damage of the kidneys."" [HPO:curators]"
HP:0000113,"""The presence of multiple cysts in both kidneys."" [HPO:probinson]"
HP:0000114,"""Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle."" [HPO:probinson]"
HP:0000117,"""High urine phosphate in the presence of hypophosphatemia."" [HPO:probinson]"
HP:0000118,"""A phenotypic abnormality."" [HPO:probinson]"
HP:0000119,"""The presence of any abnormality of the genitourinary system."" [HPO:curators]"
HP:0000121,"""Nephrocalcinosis is the deposition of calcium salts in renal parenchyma."" [HPO:probinson]"
HP:0000122,"""A unilateral form of agenesis of the kidney."" [HPO:probinson]"
HP:0000123,"""The presence of inflammation affecting the kidney."" [HPO:probinson]"
HP:0000124,"""Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid."" []"
HP:0000125,"""A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis."" [HPO:probinson]"
HP:0000126,"""Severe distention of the kidney with dilation of the renal pelvis and calices."" [HPO:probinson]"
HP:0000127,"""A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)."" [Eurenomics:fschaefer]"
HP:0000128,"""High urine potassium in the presence of hypokalemia."" [HPO:probinson]"
HP:0000130,"""An abnormality of the uterus."" [HPO:probinson]"
HP:0000131,"""The presence of a leiomyoma of the uterus."" [HPO:probinson]"
HP:0000132,"""Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days."" [HPO:probinson, PMID:22594864]"
HP:0000133,Gonadal dysgenesis
HP:0000134,"""Decreased functionality of the female gonads, i.e., of the ovary."" [HPO:probinson]"
HP:0000135,"""A decreased functionality of the gonad."" [HPO:curators]"
HP:0000136,"""The presence of a bifid uterus."" [HPO:probinson]"
HP:0000137,"""An abnormality of the ovary."" [HPO:probinson]"
HP:0000138,"""The presence of one or more cysts of the ovary."" [HPO:probinson]"
HP:0000139,"""The presence of prolapse of the uterus."" [HPO:probinson]"
HP:0000140,"""An abnormality of the ovulation cycle."" [HPO:probinson, PMID:23281358]"
HP:0000141,"""Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months."" [PMID:22594864]"
HP:0000142,"""Any structural abnormality of the vagina."" [HPO:probinson]"
HP:0000143,"""The presence of a fistula between the vagina and the rectum."" [HPO:probinson]"
HP:0000144,Decreased fertility
HP:0000145,Transverse vaginal septum
HP:0000147,Polycystic ovaries
HP:0000148,"""Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion."" [HPO:probinson]"
HP:0000149,"""The presence of a gonadoblastoma of the ovary."" [eMedicine:986581, HPO:probinson]"
HP:0000150,"""The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements."" [HPO:probinson]"
HP:0000151,"""Aplasia of the uterus."" [HPO:probinson]"
HP:0000152,"""An abnormality of head and neck."" [HPO:probinson]"
HP:0000153,"""An abnormality of the mouth."" [HPO:probinson]"
HP:0000154,"""Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)."" [PMID:19125428]"
HP:0000155,"""Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue."" [HPO:probinson]"
HP:0000157,"""Any abnormality of the tongue."" [HPO:probinson]"
HP:0000158,"""Increased length and width of the tongue."" [PMID:19125428]"
HP:0000159,"""An abnormality of the lip."" [HPO:probinson]"
HP:0000160,"""Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)."" [PMID:19125428]"
HP:0000161,"""A type of cleft lip presenting as a midline (median) gap in the upper lip."" [HPO:probinson]"
HP:0000162,"""Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly."" [HPO:probinson, PMID:19125428]"
HP:0000163,"""Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth."" [HPO:probinson]"
HP:0000164,"""Any abnormality of the teeth."" [HPO:ibailleulforestier]"
HP:0000166,"""A severe form of periodontitis."" [HPO:probinson]"
HP:0000168,"""Any abnormality of the gingiva (also known as gums)."" [HPO:probinson]"
HP:0000169,"""The presence of fibrosis of the gingiva."" [HPO:probinson]"
HP:0000171,"""Decreased length and width of the tongue."" [PMID:19125428]"
HP:0000172,"""Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate."" [HPO:probinson]"
HP:0000174,"""Any abnormality of the palate, i.e., of roof of the mouth."" [HPO:probinson]"
HP:0000175,"""Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)."" [HPO:probinson]"
HP:0000176,"""Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate."" [HPO:probinson, PMID:19779505]"
HP:0000177,"""An abnormality of the upper lip."" [HPO:probinson]"
HP:0000178,"""An abnormality of the lower lip."" [HPO:probinson]"
HP:0000179,"""Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)."" [HPO:curators, PMID:19125428]"
HP:0000180,"""Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour."" [PMID:19125428]"
HP:0000182,Movement abnormality of the tongue
HP:0000183,Difficulty in tongue movements
HP:0000185,"""Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency."" [HPO:curators]"
HP:0000187,Broad alveolar ridges
HP:0000188,"""Decreased width of the upper lip."" [HPO:probinson]"
HP:0000189,"""Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)."" [PMID:19125428]"
HP:0000190,"""An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity."" [HPO:probinson, PMID:23633765]"
HP:0000191,"""Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip."" [PMID:19125428]"
HP:0000193,"""Uvula separated into two parts most easily seen at the tip."" [PMID:19125428]"
HP:0000194,"""A facial appearance characterized by a permanently or nearly permanently opened mouth."" [HPO:probinson]"
HP:0000196,"""Depression located on the vermilion of the lower lip, usually paramedian."" [HPO:sdoelken, PMID:19125428]"
HP:0000197,"""Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear."" [HPO:curators]"
HP:0000198,Absence of Stensen duct
HP:0000199,Tongue nodules
HP:0000200,"""The presence of an abnormally short lingual frenulum."" [HPO:probinson]"
HP:0000201,"""Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate."" [HPO:probinson]"
HP:0000202,"""The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately."" [HPO:probinson, PMID:21331089]"
HP:0000204,"""A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development."" [HPO:probinson]"
HP:0000205,"""An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance."" [HPO:probinson]"
HP:0000206,"""Inflammation of the tongue."" [HPO:sdoelken]"
HP:0000207,"""The presence of a triangular form of the mouth."" [HPO:probinson]"
HP:0000211,"""Limitation in the ability to open the mouth."" [HPO:curators]"
HP:0000212,"""Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown."" [PMID:19125428]"
HP:0000214,"""Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips."" [HPO:probinson]"
HP:0000215,"""Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)."" [PMID:19125428]"
HP:0000216,Broad secondary alveolar ridge
HP:0000217,"""Dryness of the mouth due to salivary gland dysfunction."" [HPO:probinson]"
HP:0000218,"""Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)."" [PMID:19125428]"
HP:0000219,"""Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)."" [PMID:19125428]"
HP:0000220,"""Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech."" [DDD:jhurst]"
HP:0000221,"""Accentuation of the grooves on the dorsal surface of the tongue."" [PMID:19125428]"
HP:0000222,"""Hyperkeratosis of the gingiva."" [HPO:ibailleulforestier]"
HP:0000223,Abnormality of taste sensation
HP:0000224,"""A decreased ability to perceive flavor."" []"
HP:0000225,"""Hemorrhage affecting the gingiva."" [HPO:ibailleulforestier]"
HP:0000227,"""Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue."" [HPO:probinson]"
HP:0000228,"""Presence of telangiectases in the oral cavity."" [HPO:probinson]"
HP:0000230,"""Inflammation of the gingiva."" [HPO:probinson]"
HP:0000232,"""An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view."" [PMID:19125428]"
HP:0000233,"""Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips)."" [HPO:probinson, PMID:19125428]"
HP:0000234,"""An abnormality of the head."" [HPO:probinson]"
HP:0000235,"""Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments)."" [HPO:probinson, PMID:12825844]"
HP:0000236,"""An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures."" [HPO:curators]"
HP:0000237,"""Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms."" [HPO:probinson]"
HP:0000238,"""Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation."" [HPO:probinson, PMID:18211712, PMID:19410151]"
HP:0000239,"""In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms."" [HPO:probinson]"
HP:0000240,"""Any abnormality of the size of the skull."" [HPO:curators]"
HP:0000242,"""Parietal bossing is a marked prominence in the parietal region."" [HPO:probinson]"
HP:0000243,"""Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput."" [PMID:19125436]"
HP:0000244,"""Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region."" [PMID:8460563]"
HP:0000245,"""Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses."" [HPO:probinson]"
HP:0000246,"""Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction."" [HPO:probinson]"
HP:0000248,"""An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width."" [HPO:probinson, PMID:19125436]"
HP:0000250,"""An abnormal increase of density of the bones making up the calvaria."" [HPO:curators]"
HP:0000252,"""Head circumference below 2 standard deviations below the mean for age and gender."" [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597]"
HP:0000253,"""Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms."" [HPO:probinson]"
HP:0000255,"""An acute form of sinusitis."" [HPO:probinson]"
HP:0000256,"""Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium."" [PMID:19125436]"
HP:0000260,"""Enlargement of the anterior fontanelle with respect to age-dependent norms."" [HPO:curators]"
HP:0000262,"""Tall head relative to width and length."" [PMID:19125436]"
HP:0000263,"""Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull."" [HPO:curators]"
HP:0000264,"""An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone."" [HPO:pnrobinson]"
HP:0000265,Mastoiditis
HP:0000267,"""Asymmetry of the bones of the skull."" [HPO:curators]"
HP:0000268,"""An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture."" [HPO:probinson, PMID:19125436]"
HP:0000269,"""Increased convexity of the occiput (posterior part of the skull)."" [PMID:19125436]"
HP:0000270,"""Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age."" [HPO:probinson]"
HP:0000271,"""An abnormality of the face."" [HPO:probinson]"
HP:0000272,"""Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation."" [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]"
HP:0000273,Facial grimacing
HP:0000274,"""A face that is short (HP:0011219) and narrow (HP:0000275)."" [HP:probinson]"
HP:0000275,"""Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)."" [PMID:19125436]"
HP:0000276,"""Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)."" [PMID:19125436]"
HP:0000277,"""Any abnormality of the mandible, the bone of the lower jaw."" [HPO:probinson]"
HP:0000278,"""An abnormality in which the mandible is mislocalised posteriorly."" [HPO:probinson]"
HP:0000280,"""Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues."" [PMID:19125436]"
HP:0000282,Facial edema
HP:0000283,"""Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)."" [PMID:19125436]"
HP:0000286,"""A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus."" [HPO:probinson]"
HP:0000287,"""An increased amount of subcutaneous fat tissue in the face."" [HPO:probinson]"
HP:0000288,"""An abnormality of the philtrum."" [HPO:probinson]"
HP:0000289,"""Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum."" [PMID:19152422]"
HP:0000290,"""An anomaly of the forehead."" [HPO:probinson]"
HP:0000291,Abnormality of facial adipose tissue
HP:0000292,"""Loss of normal subcutaneous fat tissue in the face."" [HPO:curators]"
HP:0000293,"""Increased prominence or roundness of soft tissues between zygomata and mandible."" [DDD:awilkie]"
HP:0000294,"""Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella."" [PMID:19125436]"
HP:0000295,"""A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin."" [HPO:probinson]"
HP:0000297,"""Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)."" [HPO:probinson]"
HP:0000298,"""A lack of facial expression often with staring eyes and a slightly open mouth."" [HPO:probinson]"
HP:0000300,"""A face with a rounded and slightly elongated outline."" [HPO:probinson]"
HP:0000301,"""An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve)."" [HPO:probinson]"
HP:0000303,"""Abnormal prominence of the chin related to increased length of the mandible."" [HPO:probinson]"
HP:0000306,"""An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw."" [HPO:probinson, PMID:19125436]"
HP:0000307,"""A marked tapering of the lower face to the chin."" [PMID:19125436]"
HP:0000308,"""A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly."" [HPO:probinson]"
HP:0000309,"""An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface."" [HPO:probinson, PMID:19125436]"
HP:0000311,"""The facial appearance is more circular than usual as viewed from the front."" [PMID:19125436]"
HP:0000315,Abnormality of the orbital region
HP:0000316,"""Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)."" [PMID:19125427]"
HP:0000317,"""Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve)."" [HPO:curators]"
HP:0000319,"""Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border."" [PMID:19152422]"
HP:0000320,Bird-like facies
HP:0000321,"""Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance."" [PMID:19125436]"
HP:0000322,"""Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border."" [PMID:19152422]"
HP:0000324,"""An abnormal difference between the left and right sides of the face."" [HPO:probinson]"
HP:0000325,"""Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin."" [DDD:jclayton-smith, PMID:19125436]"
HP:0000326,"""An abnormality of the Maxilla (upper jaw bone)."" [HPO:probinson]"
HP:0000327,"""Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region."" [HPO:probinson]"
HP:0000329,"""Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face."" [HPO:curators]"
HP:0000331,"""Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin."" [HPO:probinson, PMID:19125436]"
HP:0000336,"""Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones."" [PMID:19125436]"
HP:0000337,"""Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead."" [PMID:19125436]"
HP:0000338,"""A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation."" [HPO:probinson]"
HP:0000339,"""Coarse facial features reminiscent of those of a boxer."" [HPO:probinson]"
HP:0000340,"""Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view."" [PMID:19125436]"
HP:0000341,"""Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)."" [PMID:19125436]"
HP:0000343,"""Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border."" [PMID:19152422]"
HP:0000346,"""An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling."" [HPO:probinson, PMID:856233]"
HP:0000347,"""Developmental hypoplasia of the mandible."" [HPO:probinson]"
HP:0000348,"""An abnormally increased height of the forehead."" [HPO:probinson]"
HP:0000349,"""Frontal hairline with bilateral arcs to a low point in the midline of the forehead."" [PMID:19125436]"
HP:0000350,"""The presence of a forehead that is abnormally small."" [HPO:curators]"
HP:0000356,"""An abnormality of the external ear."" [HPO:probinson]"
HP:0000357,"""Abnormal location of the ear."" [HPO:probinson]"
HP:0000358,"""A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)."" [HPO:probinson, PMID:19152421]"
HP:0000359,"""An abnormality of the inner ear."" [HPO:probinson]"
HP:0000360,"""Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation."" [Cochrane:ab005233]"
HP:0000362,"""In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss."" [HPO:probinson, PMID:15931303]"
HP:0000363,"""An abnormality of the lobule of pinna."" [HPO:probinson]"
HP:0000364,"""An abnormality of the sensory perception of sound."" [HPO:probinson]"
HP:0000365,"""A decreased magnitude of the sensory perception of sound."" [HPO:probinson]"
HP:0000366,"""An abnormality of the nose."" [HPO:probinson]"
HP:0000368,"""Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358)."" [HPO:probinson]"
HP:0000369,"""Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear."" [HPO:probinson, PMID:19152421]"
HP:0000370,"""An abnormality of the middle ear."" [HPO:probinson]"
HP:0000371,"""Acute otitis media is a short and generally painful infection of the middle ear."" [HPO:probinson]"
HP:0000372,"""An abnormality of the External acoustic tube (also known as the auditory canal)."" [HPO:probinson]"
HP:0000375,"""An abnormality of the cochlea."" [HPO:probinson]"
HP:0000376,"""With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation."" [HPO:probinson, PMID:21849370, PMID:34698066]"
HP:0000377,"""An abnormality of the pinna, which is also referred to as the auricle or external ear."" [HPO:probinson]"
HP:0000378,"""Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)."" [HPO:probinson, PMID:19162421, PMID:22073081]"
HP:0000381,"""Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles)."" [HPO:probinson, PMID:12089654]"
HP:0000383,Abnormal periauricular region morphology
HP:0000384,"""A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)."" [HPO:probinson]"
HP:0000385,"""Reduced volume of the earlobe."" [HPO:probinson, PMID:19152421]"
HP:0000387,"""Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura."" [HPO:probinson, PMID:19152421]"
HP:0000388,"""Inflammation or infection of the middle ear."" [HPO:probinson]"
HP:0000389,"""Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear."" [HPO:probinson]"
HP:0000391,"""Increased thickness of the helix of the ear."" [HPO:probinson]"
HP:0000394,"""Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha."" [HPO:probinson, PMID:19152421]"
HP:0000395,"""The presence of an abnormally prominent antihelix."" [HPO:probinson]"
HP:0000396,"""A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear."" [HPO:probinson, PMID:19152421]"
HP:0000399,"""A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech."" [HPO:probinson]"
HP:0000400,"""Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)."" [PMID:19152421]"
HP:0000402,"""An abnormal narrowing of the external auditory canal."" [HPO:probinson]"
HP:0000403,"""Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media."" [HPO:probinson]"
HP:0000405,"""An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound."" [HPO:probinson]"
HP:0000407,"""A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve."" [HPO:probinson]"
HP:0000408,"""A progressive form of sensorineural hearing impairment."" [HPO:probinson]"
HP:0000410,"""A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment."" [HPO:probinson]"
HP:0000411,"""Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)."" [PMID:19152421]"
HP:0000413,"""Absence or failure to form of the external auditory canal."" [HPO:probinson]"
HP:0000414,"""Increased volume and globular shape of the anteroinferior aspect of the nose."" [PMID:19152422]"
HP:0000415,"""Abnormality of the choanae (the posterior nasal apertures)."" [HPO:probinson]"
HP:0000417,Slender nose
HP:0000418,"""Decreased width of the nasal ridge."" [PMID:19152422]"
HP:0000419,"""An abnormality of the nasal septum."" [HPO:probinson]"
HP:0000420,"""Reduced superior to inferior length of the nasal septum."" [HPO:probinson]"
HP:0000421,"""Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose."" [HPO:probinson]"
HP:0000422,"""Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi."" [HPO:probinson, PMID:19152422]"
HP:0000426,"""Anterior positioning of the nasal root in comparison to the usual positioning for age."" [PMID:19152422]"
HP:0000429,"""An abnormality of the Ala of nose."" [HPO:probinson, PMID:19152422]"
HP:0000430,"""Thinned, deficient, or excessively arched ala nasi."" [PMID:19152422]"
HP:0000431,"""Increased breadth of the nasal bridge (and with it, the nasal root)."" [HPO:probinson, PMID:19152422]"
HP:0000433,Abnormal nasal mucosa morphology
HP:0000434,"""Telangiectasia of the nasal mucosa."" [HPO:probinson]"
HP:0000436,"""An abnormality of the nasal tip."" [HPO:probinson, PMID:19152422]"
HP:0000437,"""Decreased distance from the nasal tip to the nasal base."" [PMID:19152422]"
HP:0000444,"""Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low."" [PMID:19152422]"
HP:0000445,"""Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae."" [PMID:19152422]"
HP:0000446,"""Decreased width of the bony bridge of the nose."" [PMID:19152422]"
HP:0000447,Pear-shaped nose
HP:0000448,"""Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip."" [PMID:19152422]"
HP:0000451,Triangular nasal tip
HP:0000452,"""Abnormal narrowing of the choana (the posterior nasal aperture)."" [HPO:probinson]"
HP:0000453,"""Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral."" [ORCID:0000-0001-5889-4463, PMID:4996574]"
HP:0000454,Flared nostrils
HP:0000455,"""Increase in width of the nasal tip."" [HPO:probinson, PMID:19152422]"
HP:0000456,"""A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip."" [HPO:sdoelken, PMID:19152422]"
HP:0000457,"""Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge."" [HPO:probinson, PMID:19152422]"
HP:0000458,"""An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell."" [HPO:probinson]"
HP:0000460,"""Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae."" [PMID:19152422]"
HP:0000463,"""Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)."" [PMID:19152422]"
HP:0000464,"""An abnormality of the neck."" [HPO:probinson]"
HP:0000465,"""Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline."" [HPO:probinson, PMID:24523736]"
HP:0000466,Limited neck range of motion
HP:0000467,"""Decreased strength of the neck musculature."" [HPO:probinson]"
HP:0000468,"""An increased amount of subcutaneous fat tissue around the neck."" [HPO:probinson]"
HP:0000470,"""Diminished length of the neck."" [HPO:probinson]"
HP:0000471,"""Dysplasia affecting the vasculature of the gastrointestinal tract."" [HPO:probinson]"
HP:0000472,"""Increased inferior-superior length of the neck."" [HPO:probinson]"
HP:0000473,"""Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head."" [HPO:probinson]"
HP:0000474,"""A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome."" [HPO:probinson, PMID:16100637, PMID:30431620]"
HP:0000475,"""Increased side-to-side width of the neck."" [HPO:probinson]"
HP:0000476,"""A cystic lymphatic lesion of the neck."" [HPO:probinson]"
HP:0000478,"""Any abnormality of the eye, including location, spacing, and intraocular abnormalities."" [HPO:probinson]"
HP:0000479,"""A structural abnormality of the retina."" [HPO:probinson]"
HP:0000480,"""A notch or cleft of the retina."" [HPO:probinson]"
HP:0000481,"""Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber."" [HPO:probinson]"
HP:0000482,"""A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood."" [HPO:probinson]"
HP:0000483,"""A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea."" [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123]"
HP:0000484,"""A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error."" [HPO:probinson]"
HP:0000485,"""An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age."" [HPO:curators]"
HP:0000486,"""A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error."" [HPO:probinson, PMID:26319345, UManchester:psergouniotis]"
HP:0000488,"""Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality."" [HPO:probinson]"
HP:0000490,"""An eye that is more deeply recessed into the plane of the face than is typical."" [PMID:19125427]"
HP:0000491,"""Inflammation of the cornea."" [HPO:curators]"
HP:0000492,"""An abnormality of the eyelids."" [HPO:probinson]"
HP:0000493,"""An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina."" [HPO:probinson]"
HP:0000494,"""The palpebral fissure inclination is more than two standard deviations below the mean."" [PMID:19125427]"
HP:0000495,"""The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations."" [HPO:curators]"
HP:0000496,"""An abnormality in voluntary or involuntary eye movements or their control."" [HPO:probinson]"
HP:0000497,Globe retraction and deviation on abduction
HP:0000498,"""Inflammation of the eyelids."" [HPO:probinson]"
HP:0000499,"""An abnormality of the eyelashes."" [HPO:probinson]"
HP:0000501,"""Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure."" [HPO:probinson, PMID:11815354]"
HP:0000502,"""An abnormality of the conjunctiva."" [HPO:curators]"
HP:0000503,"""The presence of an increased number of twists and turns of the conjunctival blood vessels."" [HPO:probinson]"
HP:0000504,"""Abnormality of eyesight (visual perception)."" [HPO:probinson]"
HP:0000505,"""Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery."" [DDD:gblack]"
HP:0000506,"""Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi."" [HPO:probinson]"
HP:0000508,"""The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)."" [PMID:19125427]"
HP:0000509,"""Inflammation of the conjunctiva."" [HPO:probinson]"
HP:0000510,"""An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones."" [HPO:probinson, PMID:20212494]"
HP:0000511,"""A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal."" [HPO:probinson, PMID:20671861]"
HP:0000512,"""Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography."" [HPO:probinson]"
HP:0000514,"""An abnormally slow velocity of the saccadic eye movements."" [HPO:probinson]"
HP:0000517,"""An abnormality of the lens."" [HPO:probinson]"
HP:0000518,"""A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule."" [HPO:probinson]"
HP:0000519,"""A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens."" [HPO:probinson]"
HP:0000520,"""An eye that is protruding anterior to the plane of the face to a greater extent than is typical."" [HPO:sdoelken, PMID:19125427]"
HP:0000522,"""Absence of tear secretion."" [HPO:probinson]"
HP:0000523,"""A cataract that affects the region of the lens directly beneath the capsule of the lens."" [HPO:probinson]"
HP:0000524,"""The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva."" [HPO:probinson]"
HP:0000525,"""An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil."" [HPO:probinson]"
HP:0000526,"""Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris."" [HPO:probinson, PMID:24138039, PMID:25313118, PMID:29850208, UManchester:psergouniotis]"
HP:0000527,"""Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)."" [PMID:19125427, PMID:26288407]"
HP:0000528,"""Absence of the globe or eyeball."" [DDD:ncarter]"
HP:0000529,"""A reduction of previously attained ability to see."" [HPO:probinson]"
HP:0000531,Corneal crystals
HP:0000532,"""An abnormality of the choroid and retina."" [HPO:probinson]"
HP:0000533,"""Atrophy of the choroid and retinal layers of the fundus."" [HPO:probinson, PMID:20224472]"
HP:0000534,"""An abnormality of the eyebrow."" [HPO:probinson]"
HP:0000537,"""A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus."" [PMID:19125427]"
HP:0000538,"""Apparent optic disc swelling in the absence of increased intracranial pressure."" [HPO:probinson]"
HP:0000539,"""An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina."" [HPO:probinson]"
HP:0000540,"""An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry."" [HPO:probinson]"
HP:0000541,"""Separation of the inner layers of the retina (neural retina) from the pigment epithelium."" [HPO:probinson]"
HP:0000542,"""Reduced ability to move the eye in the direction of the nose."" [HPO:probinson]"
HP:0000543,"""A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression."" [HPO:probinson]"
HP:0000544,"""Paralysis of the external ocular muscles."" [HPO:probinson]"
HP:0000545,"""An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry."" [HPO:probinson]"
HP:0000546,"""A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells."" [HPO:probinson, ORCID:0000-0003-0986-4123]"
HP:0000548,Cone/cone-rod dystrophy
HP:0000549,"""Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object."" [HPO:probinson]"
HP:0000550,"""Lack of any response to stimulation upon electroretinography."" [HPO:probinson]"
HP:0000551,"""An anomaly in the ability to discriminate between or recognize colors."" [HPO:probinson]"
HP:0000552,"""Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment."" [HPO:probinson]"
HP:0000553,"""An abnormality of the uvea, the vascular layer of the eyeball."" [HPO:probinson]"
HP:0000554,"""Inflammation of one or all portions of the uveal tract."" [HPO:curators]"
HP:0000555,"""An abnormal white reflection from the pupil rather than the usual black reflection."" [HPO:probinson]"
HP:0000556,"""Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event."" [ORCID:0000-0003-0986-4123]"
HP:0000557,"""Diffusely large eye (with megalocornea) associated with glaucoma."" []"
HP:0000558,"""A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities."" [HPO:probinson]"
HP:0000559,Corneal scarring
HP:0000561,"""Lack of eyelashes."" [HPO:curators, PMID:19125427]"
HP:0000563,"""A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex."" [HPO:probinson, PMID:7767020]"
HP:0000564,"""A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct."" [HPO:probinson]"
HP:0000565,"""A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more."" [HPO:probinson]"
HP:0000567,"""Absence of a region of the retina, retinal pigment epithelium, and choroid."" [HPO:probinson]"
HP:0000568,"""A developmental anomaly characterized by abnormal smallness of one or both eyes."" [HPO:probinson]"
HP:0000570,"""An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements."" [HPO:probinson]"
HP:0000571,"""Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object."" [HPO:probinson, PMID:572501]"
HP:0000572,"""Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)."" [HPO:sdoelken]"
HP:0000573,"""Hemorrhage occurring within the retina."" [HPO:gcarletti]"
HP:0000574,"""Increased density/number and/or increased diameter of eyebrow hairs."" [PMID:19125427]"
HP:0000575,"""A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision."" [HPO:probinson]"
HP:0000576,"""A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape."" [HPO:probinson]"
HP:0000577,"""A form of strabismus with one or both eyes deviated outward."" [HPO:probinson]"
HP:0000579,"""Blockage of the lacrimal duct."" [HPO:probinson]"
HP:0000580,"""An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss."" [ORCID:0000-0003-0986-4123]"
HP:0000581,"""A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures."" [PMID:19125427]"
HP:0000582,"""The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age."" [PMID:19125427]"
HP:0000584,Punctate corneal epithelial erosions
HP:0000585,"""An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation."" [HPO:probinson]"
HP:0000586,"""Reduced depth of the orbits associated with prominent-appearing ocular globes."" [HPO:probinson]"
HP:0000587,"""Abnormality of the optic nerve."" [HPO:probinson]"
HP:0000588,"""A cleft of the optic nerve that extends inferiorly."" [HPO:probinson, PMID:16219745]"
HP:0000589,"""A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa."" [HPO:probinson]"
HP:0000590,"""Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades."" [HPO:probinson]"
HP:0000591,"""An abnormality of the sclera."" [HPO:probinson]"
HP:0000592,"""An abnormal bluish coloration of the sclera."" [HPO:probinson]"
HP:0000593,"""Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris."" [HPO:probinson]"
HP:0000594,"""Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased."" [HPO:probinson]"
HP:0000597,"""Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement."" [HPO:curators]"
HP:0000598,"""An abnormality of the ear."" [HPO:probinson]"
HP:0000599,"""An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not."" [HPO:probinson]"
HP:0000600,"""An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly."" [HPO:probinson]"
HP:0000601,"""Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)."" [HPO:probinson, PMID:19125427]"
HP:0000602,"""Paralysis of one or more extraocular muscles that are responsible for eye movements."" [HPO:probinson]"
HP:0000603,"""An area of depressed vision located at the point of fixation and that interferes with central vision."" [HPO:probinson]"
HP:0000605,"""A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal."" [HPO:probinson]"
HP:0000606,"""An abnormality of the region situated around the orbit of the eye."" [HPO:probinson]"
HP:0000607,Periorbital wrinkles
HP:0000608,"""A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea."" [HPO:probinson, ORCID:0000-0003-0986-4123]"
HP:0000609,"""Underdevelopment of the optic nerve."" [HPO:probinson]"
HP:0000610,"""Any structural abnormality of the choroid."" [HPO:probinson]"
HP:0000612,"""A coloboma of the iris."" [HPO:probinson, PMID:19369671]"
HP:0000613,"""Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light."" [HPO:probinson]"
HP:0000614,"""An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity."" [DDD:ncarter]"
HP:0000615,"""An abnormality of the pupil."" [HPO:probinson]"
HP:0000616,"""Abnormal (non-physiological) constriction of the pupil."" [HPO:probinson]"
HP:0000617,"""An abnormality of eye movement characterized by impaired smooth-pursuit eye movements."" [HPO:probinson]"
HP:0000618,"""Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation."" [DDD:gblack, PMID:28779882]"
HP:0000619,"""Reduced ability to turn the eyes inward in order to focus on a nearby object."" [HPO:probinson]"
HP:0000620,"""Inflammation of the nasolacrimal sac."" [HPO:probinson]"
HP:0000621,"""An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital."" [ORCID:0000-0003-0986-4123, PMID:19125427]"
HP:0000622,"""Lack of sharpness of vision resulting in the inability to see fine detail."" [HPO:probinson]"
HP:0000623,"""A vertical gaze palsy with inability to direct the gaze of the eyes downwards."" [HPO:probinson, PMID:20629667]"
HP:0000625,"""A short discontinuity of the margin of the lower or upper eyelid."" [PMID:19125427]"
HP:0000627,"""A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe."" [HPO:probinson]"
HP:0000629,"""Increase in periorbital soft tissue."" [HPO:sdoelken]"
HP:0000630,Abnormal retinal artery morphology
HP:0000631,"""The presence of an increased number of twists and turns of the retinal artery."" [HPO:probinson]"
HP:0000632,"""Abnormality of tear production."" [HPO:probinson]"
HP:0000633,"""Abnormally decreased lacrimation, that is, reduced ability to produce tears."" [HPO:probinson]"
HP:0000634,"""An impaired ability of the eye to move in the outward direction (towards the side of the head)."" [HPO:probinson]"
HP:0000635,"""A markedly blue coloration of the iris."" [HPO:probinson]"
HP:0000636,"""A short discontinuity of the margin of the upper eyelid."" [HPO:probinson]"
HP:0000637,"""Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures."" [PMID:19125427]"
HP:0000639,"""Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms."" [HPO:curators]"
HP:0000640,"""Nystagmus made apparent by looking to the right or to the left."" [HPO:curators]"
HP:0000641,"""The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results."" [HPO:probinson, PMID:572501]"
HP:0000642,"""Difficulty with discriminating red and green hues."" [DDD:gblack]"
HP:0000643,"""A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids."" [HPO:probinson]"
HP:0000646,"""Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways."" [HPO:probinson]"
HP:0000647,"""A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea."" [HPO:probinson]"
HP:0000648,"""Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy."" [HPO:probinson]"
HP:0000649,"""An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex."" [HPO:probinson, PMID:19826847]"
HP:0000650,Abnormal amplitude of pattern reversal visual evoked potentials
HP:0000651,"""Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision."" [HPO:probinson]"
HP:0000652,"""A short discontinuity of the margin of the lower eyelid."" [HPO:probinson]"
HP:0000653,"""Decreased density/number of eyelashes."" [PMID:19125427]"
HP:0000654,"""Descreased amplitude of eletrical response upon electroretinography."" [HPO:probinson]"
HP:0000656,"""An outward turning (eversion) or rotation of the eyelid margin."" [PMID:19125427]"
HP:0000657,"""Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex."" [HPO:probinson, PMID:20615230]"
HP:0000658,Eyelid apraxia
HP:0000659,"""A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity."" [HPO:probinson]"
HP:0000660,"""A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature."" [PMID:10379021, PMID:16120862]"
HP:0000661,Palpebral fissure narrowing on adduction
HP:0000662,"""Inability to see well at night or in poor light."" [HPO:probinson]"
HP:0000664,"""Meeting of the medial eyebrows in the midline."" [PMID:19125427]"
HP:0000666,"""Nystagmus consisting of horizontal to-and-fro eye movements."" [HPO:probinson]"
HP:0000667,"""Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease."" [HPO:probinson]"
HP:0000668,"""The absence of five or less teeth from the normal series by a failure to develop."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0000670,"""Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries."" [HPO:probinson]"
HP:0000674,"""The absence of all teeth from the normal series by a failure to develop."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0000675,"""Increased size of the maxillary central secondary incisor tooth."" [HPO:ibailleulforestier]"
HP:0000676,"""An abnormality of the Incisor tooth."" [HPO:probinson]"
HP:0000677,"""The absence of six or more teeth from the normal series by a failure\nto develop."" [PMID:19125428, PMID:31468724]"
HP:0000678,"""Changes in alignment of teeth in the dental arch"" [PMID:19125428, PMID:31468724]"
HP:0000679,"""Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0000680,"""Delayed tooth eruption affecting the primary dentition."" [HPO:ibailleulforestier]"
HP:0000682,"""An abnormality of the dental enamel."" [HPO:probinson]"
HP:0000683,"""A grey discoloration of the dental enamel."" [HPO:ibailleulforestier]"
HP:0000684,"""Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age."" [HPO:ibailleulforestier, PMID:19125428, PMID:31468724]"
HP:0000685,"""Developmental hypoplasia of teeth."" [HPO:ibailleulforestier]"
HP:0000687,"""Increased spaces (diastemata) between most of the teeth in the same dental arch."" [PMID:19125428]"
HP:0000689,"""Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns."" [PMID:31468724]"
HP:0000690,"""Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor."" [HPO:ibailleulforestier]"
HP:0000691,"""Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth."" [HPO:ibailleulforestier, PMID:19125428]"
HP:0000692,"""Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth."" [HPO:ibailleulforestier]"
HP:0000694,"""The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin."" [HPO:ibailleulforestier]"
HP:0000695,"""A tooth present at birth or erupting within the first month of life."" [PMID:19125428, PMID:31468724]"
HP:0000696,"""Delayed tooth eruption affecting the secondary dentition."" [HPO:ibailleulforestier]"
HP:0000698,"""An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0000699,"""Increased space between two adjacent teeth in the same dental arch."" [PMID:19125428]"
HP:0000700,"""Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)."" [HPO:ibailleulforestier]"
HP:0000703,"""Developmental dysplasia of dentin."" [HPO:ibailleulforestier]"
HP:0000704,"""Inflammation of the periodontium."" [HPO:ibailleulforestier]"
HP:0000705,"""A developmental dysplasia of the dental enamel."" [HPO:ibailleulforestier, PMID:18499550]"
HP:0000706,"""A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0000707,"""An abnormality of the nervous system."" [HPO:probinson]"
HP:0000708,"""An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities."" [HPO:probinson]"
HP:0000709,"""A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs."" [HPO:curators]"
HP:0000710,"""A tendency or compulsion to examine objects by mouth."" [HPO:sdoelken]"
HP:0000711,"""A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress."" [PMID:28332736]"
HP:0000712,"""Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances."" [PMID:23902698]"
HP:0000713,"""A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension."" [PMID:29630205]"
HP:0000716,"""Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior."" [HPO:probinson, PMID:23902698]"
HP:0000717,"""Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV)."" [DDD:hvfirth]"
HP:0000718,"""Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself."" [HPO:curators]"
HP:0000719,Inappropriate behavior
HP:0000721,Lack of spontaneous play
HP:0000722,"""Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV)."" [HPO:probinson]"
HP:0000723,"""Behavior characterized by an abnormal limitation to few interests and activities."" [HPO:probinson]"
HP:0000725,Psychotic episodes
HP:0000726,"""A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior."" [HPO:probinson]"
HP:0000727,Frontal lobe dementia
HP:0000728,Impaired ability to form peer relationships
HP:0000729,"""Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior."" [HPO:probinson, PMID:28879490]"
HP:0000732,Inflexible adherence to routines or rituals
HP:0000733,"""A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral."" [HPO:probinson]"
HP:0000734,"""A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment."" [HPO:sdoelken]"
HP:0000735,"""Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships."" [HPO:probinson]"
HP:0000736,"""Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder."" [HPO:curators]"
HP:0000737,"""A proneness to anger, i.e., a condition of being easily bothered or annoyed."" [PMID:27343883]"
HP:0000738,"""Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space."" [HPO:sdoelken]"
HP:0000739,"""Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control."" [HPO:probinson, PMID:23902698]"
HP:0000740,"""Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable."" []"
HP:0000741,Apathy
HP:0000742,Self-mutilation
HP:0000743,"""Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes."" [HPO:sdoelken]"
HP:0000744,"""The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors."" [PMID:21461367]"
HP:0000745,"""A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action."" [HPO:probinson, PMID:16030444]"
HP:0000746,"""A false belief that is held despite evidence to the contrary."" [HPO:sdoelken]"
HP:0000748,Inappropriate laughter
HP:0000749,Paroxysmal bursts of laughter
HP:0000750,"""A degree of language development that is significantly below the norm for a child of a specified age."" [HPO:probinson]"
HP:0000751,"""An abnormal shift in patterns of thinking, acting, or feeling."" [HPO:probinson]"
HP:0000752,"""Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate."" [ORCID:0000-0002-6713-2943]"
HP:0000753,Autism with high cognitive abilities
HP:0000756,"""A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather."" [HPO:probinson]"
HP:0000757,Lack of insight
HP:0000758,"""Any abnormal nonverbal communication, such as reduced use of eye-to-eye gaze, atypical facial expressions, body posture, and gestures."" [HPO:probinson]"
HP:0000759,"""A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system)."" [HPO:probinson]"
HP:0000762,"""A reduction in the speed at which electrical signals propagate along the axon of a neuron."" [HPO:probinson]"
HP:0000763,"""Peripheral neuropathy affecting the sensory nerves."" [HPO:curators]"
HP:0000764,"""Progressive deterioration of peripheral axons."" [HPO:probinson]"
HP:0000765,"""Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)."" [HPO:probinson]"
HP:0000766,"""An anomaly of the sternum, also known as the breastbone."" [HPO:probinson]"
HP:0000767,"""A defect of the chest wall characterized by a depression of the sternum, giving the chest (\""pectus\"") a caved-in (\""excavatum\"") appearance."" [HPO:probinson]"
HP:0000768,"""A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum."" [HPO:probinson]"
HP:0000769,"""An abnormality of the breast."" [HPO:probinson]"
HP:0000771,"""Abnormal development of large mammary glands in males resulting in breast enlargement."" [HPO:probinson]"
HP:0000772,"""An anomaly of the rib."" [HPO:probinson]"
HP:0000773,"""Reduced rib length."" [HPO:probinson]"
HP:0000774,"""Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder."" [HPO:probinson]"
HP:0000775,"""Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity."" [HPO:probinson]"
HP:0000776,"""The presence of a hernia of the diaphragm present at birth."" [HPO:probinson]"
HP:0000777,"""Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation."" [HPO:probinson]"
HP:0000778,"""Underdevelopment of the thymus."" [HPO:curators]"
HP:0000782,"""Any abnormality of the scapula, also known as the shoulder blade."" [HPO:probinson]"
HP:0000786,Primary amenorrhea
HP:0000787,"""The presence of calculi (stones) in the kidneys."" [HPO:probinson]"
HP:0000789,Infertility
HP:0000790,"""The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)."" [HPO:curators]"
HP:0000791,"""The presence of uric acid-containing calculi (stones) in the kidneys."" [HPO:probinson]"
HP:0000793,"""A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity"" [PMID:19908070]"
HP:0000794,"""The presence of immunoglobulin A deposits in the glomerulus."" [Eurenomics:ewuehl]"
HP:0000795,"""An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body."" [HPO:probinson]"
HP:0000796,"""Obstruction of the flow of urine through the urethra."" [HPO:probinson]"
HP:0000798,"""Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen."" [HPO:probinson]"
HP:0000799,"""Abnormal fat accumulation in the kidneys."" [HPO:probinson]"
HP:0000800,Cystic renal dysplasia
HP:0000802,"""Inability to develop or maintain an erection of the penis."" [HPO:probinson]"
HP:0000803,"""Cysts of the cortex of the kidney."" [Eurenomics:fschaefer]"
HP:0000804,"""The presence of xanthine-containing calculi (stones) in the kidneys."" [HPO:probinson]"
HP:0000805,"""Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible."" [HPO:sdoelken]"
HP:0000807,Glandular hypospadias
HP:0000808,"""A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum."" [HPO:probinson]"
HP:0000809,"""Congenital absence of the normal opening of a structure of the urinary tract."" [HPO:probinson]"
HP:0000811,Abnormal external genitalia
HP:0000812,"""An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male)."" [HPO:probinson]"
HP:0000813,"""The presence of a bicornuate uterus."" [HPO:probinson]"
HP:0000815,"""Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay."" [HPO:curators]"
HP:0000816,"""An abnormality of the tricarboxylic acid cycle."" [HPO:probinson]"
HP:0000817,"""Difficulty in looking at another person in the eye."" [HPO:probinson]"
HP:0000818,"""An abnormality of the endocrine system."" [HPO:probinson]"
HP:0000819,"""A group of abnormalities characterized by hyperglycemia and glucose intolerance."" [HPO:probinson]"
HP:0000820,"""An abnormality of the thyroid gland."" [HPO:probinson]"
HP:0000821,"""Deficiency of thyroid hormone."" [HPO:probinson]"
HP:0000822,"""The presence of chronic increased pressure in the systemic arterial system."" [HPO:probinson]"
HP:0000823,"""Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty."" [HPO:probinson]"
HP:0000824,"""Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests."" [HPO:probinson, PMID:25914878]"
HP:0000825,"""An increased concentration of insulin combined with a decreased concentration of glucose in the blood."" [HPO:probinson]"
HP:0000826,"""The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys."" [HPO:probinson]"
HP:0000828,"""An abnormality of the parathyroid gland."" [HPO:curators]"
HP:0000829,"""A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia."" [HPO:probinson]"
HP:0000830,"""A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone."" [HPO:probinson]"
HP:0000831,"""A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels."" [HPO:probinson, PMID:7706500]"
HP:0000832,"""A type of hypothyroidism that results from a defect in the thyroid gland."" [HPO:probinson]"
HP:0000834,"""Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys."" [HPO:probinson]"
HP:0000835,"""Developmental hypoplasia of the adrenal glands."" [HPO:probinson]"
HP:0000836,"""An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)."" [HPO:probinson]"
HP:0000837,"""Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland."" [DDD:spark]"
HP:0000839,"""A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones."" [HPO:probinson]"
HP:0000840,"""Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects."" [HPO:probinson]"
HP:0000841,"""An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms."" [HPO:probinson]"
HP:0000842,"""An increased concentration of insulin in the blood."" [HPO:probinson]"
HP:0000843,"""Excessive production of parathyroid hormone (PTH) by the parathyroid glands."" [HPO:probinson]"
HP:0000845,"""Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness."" [DDD:spark, HPO:probinson]"
HP:0000846,"""Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands."" [HPO:probinson, PMID:11443143]"
HP:0000847,"""An abnormality of the renin-angiotensin system."" [HPO:probinson]"
HP:0000848,"""An increased level of renin in the blood."" [HPO:probinson]"
HP:0000849,Adrenocortical abnormality
HP:0000851,"""A type of hypothyroidism with congenital onset."" [HPO:probinson]"
HP:0000852,"""A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone."" [HPO:probinson]"
HP:0000853,"""An enlargement of the thyroid gland."" [HPO:probinson]"
HP:0000854,"""The presence of a adenoma of the thyroid gland."" [HPO:probinson]"
HP:0000855,"""Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels."" [HPO:probinson]"
HP:0000857,Neonatal insulin-dependent diabetes mellitus
HP:0000858,"""Abnormally high variation in the amount of time between periods."" [PMID:29323693]"
HP:0000859,"""Overproduction of the mineralocorticoid aldosterone by the adrenal cortex."" [DDD:spark, HPO:probinson]"
HP:0000860,"""Developmental hypoplasia of the parathyroid gland."" [HPO:probinson]"
HP:0000863,"""A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus."" [HPO:curators]"
HP:0000864,"""Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit."" [DDD:spark]"
HP:0000866,Euthyroid multinodular goiter
HP:0000867,"""Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia."" [HPO:probinson, PMID:19836494]"
HP:0000868,Decreased fertility in females
HP:0000869,Secondary amenorrhea
HP:0000870,"""The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy."" [DDD:spark, HPO:probinson]"
HP:0000871,"""A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)."" [HPO:probinson, PMID:12466332]"
HP:0000872,"""A chronic, autoimmune type of thyroiditis associated with hypothyroidism."" [HPO:probinson]"
HP:0000873,"""A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)."" [HPO:curators]"
HP:0000875,Episodic hypertension
HP:0000876,"""Infrequent menses (less than 6 per year or more than 35 days between cycles)."" [HPO:probinson, PMID:22594864]"
HP:0000877,Insulin-resistant diabetes mellitus at puberty
HP:0000878,"""Presence of only 11 pairs of ribs."" [HPO:probinson]"
HP:0000879,"""Decreased inferosuperior length of the sternum."" [HPO:probinson]"
HP:0000882,"""Underdeveloped scapula."" [HPO:probinson]"
HP:0000883,"""Ribs with a reduced diameter."" [HPO:probinson]"
HP:0000884,Prominent sternum
HP:0000885,"""Increased width of ribs"" [HPO:probinson]"
HP:0000886,"""Malformation of the rib cage."" [HPO:probinson]"
HP:0000887,"""Wide, concave rib end."" [HPO:probinson]"
HP:0000888,"""A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12."" [HPO:probinson]"
HP:0000889,"""Any abnormality of the clavicles (collar bones)."" [HPO:probinson]"
HP:0000890,"""Increased length of the clavicles."" [HPO:probinson]"
HP:0000891,Cervical ribs
HP:0000892,"""A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray."" [HPO:probinson]"
HP:0000893,"""Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage."" [HPO:probinson]"
HP:0000894,"""Reduced length of the clavicles."" [HPO:probinson]"
HP:0000895,"""An excessive upward convexity of the lateral clavicle."" [HPO:probinson, PMID:7322653]"
HP:0000896,"""Multiple circumscribed bony excrescences located in the ribs."" [HPO:probinson]"
HP:0000897,"""A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary."" [HPO:probinson, PMID:26745253]"
HP:0000900,"""Increased thickness (diameter) of ribs."" [HPO:probinson]"
HP:0000902,"""Complete or partial merging of adjacent ribs."" [HPO:probinson]"
HP:0000904,"""The presence of wide, concave anterior rib ends."" [HPO:curators]"
HP:0000905,"""Progressive bone resorption in the distal part of the clavicle."" [HPO:probinson]"
HP:0000907,"""Wide, concave anterior rib end."" [HPO:probinson]"
HP:0000910,Wide-cupped costochondral junctions
HP:0000911,"""Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus."" [HPO:probinson, PMID:15163819]"
HP:0000912,"""A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other)."" [HPO:probinson]"
HP:0000913,"""Complete or partial merging of the posterior part of adjacent ribs."" [HPO:probinson]"
HP:0000914,"""A broad chest."" [HPO:probinson, PMID:22368597]"
HP:0000915,"""Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum."" [HPO:probinson]"
HP:0000916,"""Increased width (cross-sectional diameter) of the clavicles."" [HPO:probinson]"
HP:0000917,"""Pectus carinatum affecting primarily the superior part of the sternum."" [HPO:curators]"
HP:0000918,"""The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage."" [HPO:probinson]"
HP:0000919,"""Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum."" [HPO:probinson]"
HP:0000920,"""Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum."" [HPO:probinson]"
HP:0000921,"""A developmental anomaly with absence of one or more ribs."" [HPO:probinson]"
HP:0000922,"""Wide, concave posterior rib end."" [HPO:probinson]"
HP:0000923,"""The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage."" [HPO:probinson]"
HP:0000924,"""An abnormality of the skeletal system."" [HPO:probinson]"
HP:0000925,"""Any abnormality of the vertebral column."" [HPO:probinson]"
HP:0000926,"""A flattened vertebral body shape with reduced distance between the vertebral endplates."" [HPO:probinson]"
HP:0000927,"""The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation."" [HPO:probinson]"
HP:0000929,"""An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone."" [HPO:probinson]"
HP:0000930,Elevated imprint of the transverse sinuses
HP:0000931,Thinning and bulging of the posterior fossa bones
HP:0000932,"""An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum."" [HPO:probinson, PMID:25970099, PMID:28295149]"
HP:0000933,Posterior fossa cyst at the fourth ventricle
HP:0000934,"""Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) ."" [HPO:sdoelken]"
HP:0000935,"""Abnormal thickening of the cortex of long bones."" [HPO:curators]"
HP:0000938,"""Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5."" [HPO:probinson, PMID:21234807]"
HP:0000939,"""Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)."" [HPO:probinson, PMID:28293453]"
HP:0000940,"""An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone."" [HPO:probinson]"
HP:0000941,Short diaphyses
HP:0000943,Dysostosis multiplex
HP:0000944,"""An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood."" [HPO:probinson]"
HP:0000946,"""Underdevelopment of the ilium."" [HPO:probinson]"
HP:0000947,"""An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses."" [HPO:probinson]"
HP:0000951,"""An abnormality of the skin."" [HPO:probinson]"
HP:0000952,"""Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream."" [HPO:probinson]"
HP:0000953,"""A darkening of the skin related to an increase in melanin production and deposition."" [HPO:probinson]"
HP:0000954,"""The distal and proximal transverse palmar creases are merged into a single transverse palmar crease."" [HPO:probinson, PMID:19125433]"
HP:0000956,"""A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck."" [DDD:cmoss, PMID:19061584]"
HP:0000957,"""Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children."" [HPO:probinson]"
HP:0000958,"""Skin characterized by the lack of natural or normal moisture."" [HPO:probinson]"
HP:0000960,"""A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft."" [HPO:probinson, PMID:28245993]"
HP:0000961,"""Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood."" [PMID:25658213]"
HP:0000962,"""Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum."" [HPO:probinson]"
HP:0000963,"""Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin."" [HPO:probinson]"
HP:0000964,"""Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding."" [HPO:probinson]"
HP:0000965,"""A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather."" [HPO:sdoelken]"
HP:0000966,"""Abnormally diminished capacity to sweat."" [HPO:probinson]"
HP:0000967,"""Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae."" [HPO:probinson, PMID:29493956]"
HP:0000968,"""Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands."" [HPO:probinson]"
HP:0000969,"""An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body."" [HPO:probinson]"
HP:0000970,"""Inability to sweat."" [HPO:probinson]"
HP:0000971,"""Any structural abnormality of the sweat gland."" [HPO:probinson]"
HP:0000972,"""Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot."" [HPO:probinson]"
HP:0000973,"""Wrinkled, redundant, inelastic and sagging skin."" [HPO:probinson]"
HP:0000974,"""A condition in which the skin can be stretched beyond normal, and then returns to its initial position."" [HPO:sdoelken]"
HP:0000975,"""Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather."" [HPO:probinson]"
HP:0000976,Eczematoid dermatitis
HP:0000977,"""Subjective impression of increased softness upon palpation of the skin."" [HPO:probinson]"
HP:0000978,"""An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma."" [HPO:probinson]"
HP:0000979,"""Purpura (from Latin: purpura, meaning \""purple\"") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae."" [HPO:probinson, PMID:11515831]"
HP:0000980,"""Abnormally pale skin."" [HPO:probinson]"
HP:0000982,"""Abnormal thickening of the skin of the palms of the hands and the soles of the feet."" [HPO:probinson]"
HP:0000987,"""Atypically scarred skin ."" [HPO:sdoelken]"
HP:0000988,"""A red eruption of the skin."" [HPO:probinson]"
HP:0000989,"""Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus."" [HPO:probinson]"
HP:0000991,"""The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin."" [HPO:curators]"
HP:0000992,"""An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin."" [HPO:probinson]"
HP:0000993,"""Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees."" [HPO:probinson]"
HP:0000995,"""A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger."" [HPO:probinson]"
HP:0000996,"""Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face."" []"
HP:0000997,"""The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin."" [PMID:12186179]"
HP:0000998,"""Hypertrichosis is increased hair growth that is abnormal in quantity or location."" [HPO:probinson]"
HP:0000999,"""Any manifestation of a skin disease associated with the production of pus."" [HPO:probinson]"
HP:0001000,"""An abnormality of the pigmentation of the skin."" [HPO:probinson]"
HP:0001001,Abnormality of subcutaneous fat tissue
HP:0001003,"""Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots."" [HPO:probinson]"
HP:0001004,"""Localized fluid retention and tissue swelling caused by a compromised lymphatic system."" [HPO:sdoelken]"
HP:0001005,Dermatological manifestations of systemic disorders
HP:0001007,"""Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)."" [HPO:sdoelken]"
HP:0001008,Accumulation of melanosomes in melanocytes
HP:0001009,"""Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips."" [HPO:probinson]"
HP:0001010,"""A reduction of skin color related to a decrease in melanin production and deposition."" [HPO:probinson]"
HP:0001012,"""The presence of multiple lipomas (a type of benign tissue made of fatty tissue)."" [HPO:sdoelken]"
HP:0001013,"""Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur."" [PMID:12165227, PMID:22375975]"
HP:0001014,"""Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot."" [HPO:probinson, PMID:8993949]"
HP:0001015,"""A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal."" []"
HP:0001017,"""A type of pallor that is secondary to the presence of anemia."" [HPO:probinson]"
HP:0001018,"""An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand."" [HPO:probinson]"
HP:0001019,"""An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever."" [HPO:probinson]"
HP:0001022,"""An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)."" [HPO:sdoelken]"
HP:0001024,Skin dimple over apex of long bone angulation
HP:0001025,"""Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure."" [HPO:probinson]"
HP:0001026,Penetrating foot ulcers
HP:0001027,"""A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough."" []"
HP:0001028,"""A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)."" [HPO:probinson]"
HP:0001029,"""Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias."" [HPO:probinson]"
HP:0001030,"""Skin that splits easily with minimal injury."" [HPO:probinson]"
HP:0001031,"""The presence of subcutaneous lipoma."" [HPO:probinson]"
HP:0001032,"""Absence of the distal interphalangeal flexion creases of the fingers."" [HPO:curators]"
HP:0001033,Facial flushing after alcohol intake
HP:0001034,"""A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size."" [DDD:cmoss]"
HP:0001036,"""Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes."" [HPO:probinson]"
HP:0001038,Warfarin-induced skin necrosis
HP:0001039,Atheroeruptive xanthoma
HP:0001040,Multiple pterygia
HP:0001041,"""Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin."" [HPO:probinson]"
HP:0001042,High axial triradius
HP:0001043,Prominent scalp veins
HP:0001045,Vitiligo
HP:0001046,"""Jaundice that is sometimes present, sometimes not."" [HPO:curators]"
HP:0001047,"""Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage."" [HPO:probinson, PMID:27904186]"
HP:0001048,"""The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma."" [HPO:probinson]"
HP:0001049,Absent dorsal skin creases over affected joints
HP:0001050,Plethora
HP:0001051,"""Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk."" [HPO:curators]"
HP:0001052,"""A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin."" [HPO:sdoelken, PMID:22483320]"
HP:0001053,Hypopigmented skin patches
HP:0001054,Numerous nevi
HP:0001055,"""Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system."" [HPO:probinson]"
HP:0001056,"""Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin."" [HPO:probinson]"
HP:0001057,"""A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs."" [HPO:probinson]"
HP:0001058,"""A reduced ability to heal cutaneous wounds."" [HPO:probinson]"
HP:0001059,"""Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits."" [HPO:probinson]"
HP:0001060,"""Presence of a cutaneous membrane (flap) in the armpit."" []"
HP:0001061,"""A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts)."" [HPO:probinson]"
HP:0001062,"""A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink."" [HPO:probinson]"
HP:0001063,"""Bluish discoloration of the skin of the hands or feet."" [PMID:32644593]"
HP:0001065,"""Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders."" [HPO:probinson]"
HP:0001067,"""The presence of multiple cutaneous neurofibromas."" [HPO:probinson]"
HP:0001069,"""Intermittent episodes of abnormally increased perspiration."" [HPO:probinson]"
HP:0001070,"""Patchy and irregular skin pigmentation."" [HPO:probinson]"
HP:0001071,"""Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation."" []"
HP:0001072,"""Laminar thickening of skin."" [HPO:sdoelken]"
HP:0001073,"""Thin (atrophic) and wide scars."" [HPO:probinson]"
HP:0001074,Atypical nevi in non-sun exposed areas
HP:0001075,"""Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin."" [HPO:probinson]"
HP:0001076,Glabellar hemangioma
HP:0001080,"""An abnormality of the biliary tree."" [HPO:probinson]"
HP:0001081,"""Hard, pebble-like deposits that form within the gallbladder."" [HPO:probinson]"
HP:0001082,"""The presence of inflammatory changes in the gallbladder."" [HPO:probinson]"
HP:0001083,"""Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation."" [HPO:probinson]"
HP:0001084,"""A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years."" [HPO:curators]"
HP:0001085,"""Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure."" [HPO:probinson]"
HP:0001087,"""Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma."" []"
HP:0001088,"""The presence of whitish spots in a ring-like arrangement at the periphery of the iris."" [HPO:probinson]"
HP:0001089,"""Loss of iris tissue (atrophy)"" [HPO:probinson]"
HP:0001090,"""Diffusely large eye (with megalocornea) without glaucoma."" [HPO:probinson]"
HP:0001092,"""No identifiable superior and/or inferior lacrimal punctum."" [PMID:19125427]"
HP:0001093,"""The presence of developmental dysplasia of the optic nerve."" [HPO:probinson]"
HP:0001094,"""A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body."" [HPO:probinson]"
HP:0001095,Hypertensive retinopathy
HP:0001096,"""Inflammation of the cornea and conjunctiva."" [HPO:probinson]"
HP:0001097,"""Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids."" [HPO:probinson]"
HP:0001098,"""Any structural abnormality of the fundus of the eye."" []"
HP:0001099,Fundus atrophy
HP:0001100,"""Heterochromia iridis is a difference in the color of the iris in the two eyes."" [HPO:probinson]"
HP:0001101,"""Inflammation of the iris."" [HPO:probinson]"
HP:0001102,"""Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic."" [HPO:probinson, ORCID:0000-0003-0986-4123, PMID:30844178]"
HP:0001103,"""A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina."" [HPO:probinson, PMID:16255686]"
HP:0001104,"""Underdevelopment of the macula lutea."" [HPO:probinson]"
HP:0001105,"""Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss."" [ORCID:0000-0003-0986-4123]"
HP:0001106,"""Increased pigmentation of the skin in the region surrounding the orbit of the eye."" [HPO:probinson]"
HP:0001107,"""An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina."" [HPO:probinson]"
HP:0001112,"""Degeneration of retinal ganglion cells and their axons."" [HPO:probinson]"
HP:0001114,"""The presence of xanthomata in the skin of the eyelid."" [HPO:curators]"
HP:0001115,"""A polar cataract that affects the posterior pole of the lens."" [HPO:probinson]"
HP:0001116,"""A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented."" [DDD:gblack, PMID:15069441]"
HP:0001117,"""Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy."" [HPO:probinson]"
HP:0001118,"""A type of cataract that is not apparent at birth but that arises in childhood or adolescence."" [HPO:probinson]"
HP:0001119,"""Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea."" [PMID:19667340]"
HP:0001120,"""Any abnormality of the size or morphology of the cornea."" [HPO:curators]"
HP:0001123,Visual field defect
HP:0001125,"""Transient blurring of vision associated with the aura phase of migraine."" [HPO:probinson]"
HP:0001126,"""Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity."" [HPO:probinson, PMID:19125427]"
HP:0001128,"""Inversion and rubbing of the eyelashes against the globe of the eye."" [HPO:curators]"
HP:0001129,Large central visual field defect
HP:0001131,"""The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea."" [HPO:probinson]"
HP:0001132,"""Partial dislocation of the lens of the eye."" [HPO:probinson]"
HP:0001133,"""An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye."" [ORCID:0000-0003-0986-4123]"
HP:0001134,"""A polar cataract that affects the anterior pole of the lens."" [HPO:probinson]"
HP:0001135,Chorioretinal dystrophy
HP:0001136,"""The presence of an increased number of twists and turns of the retinal arterioles."" [HPO:probinson]"
HP:0001137,"""Esotropia in which either eye may be used for fixation."" [ORCID:0000-0003-0986-4123]"
HP:0001138,Optic neuropathy
HP:0001139,Choroideremia
HP:0001140,"""A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)."" [HPO:probinson]"
HP:0001141,"""Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation)."" [PMID:28779882]"
HP:0001142,"""A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly."" [DDD:ncarter]"
HP:0001144,"""Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)."" [HPO:probinson]"
HP:0001147,"""Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina."" [HPO:probinson]"
HP:0001149,"""The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea."" [HPO:curators]"
HP:0001151,"""An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects."" [HPO:probinson]"
HP:0001152,"""An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements."" [HPO:probinson]"
HP:0001153,"""The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases."" [HPO:curators]"
HP:0001155,"""An abnormality affecting one or both hands."" [HPO:probinson]"
HP:0001156,"""Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here."" [HPO:probinson]"
HP:0001159,"""Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \""bony\"" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \""symphalangism\""."" [HPO:probinson]"
HP:0001161,"""A kind of polydactyly characterized by the presence of a supernumerary finger or fingers."" [HPO:probinson]"
HP:0001162,"""Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)."" [HPO:sdoelken]"
HP:0001166,"""Abnormally long and slender fingers (\""spider fingers\"")."" [HPO:probinson]"
HP:0001167,"""An anomaly of a finger."" [HPO:probinson]"
HP:0001169,"""For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length."" [HPO:probinson, PMID:19125433]"
HP:0001171,"""A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands."" [HPO:sdoelken]"
HP:0001172,"""An abnormal structure of the first digit of the hand."" []"
HP:0001176,Large hands
HP:0001177,"""Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits."" [HPO:probinson]"
HP:0001178,"""An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm."" [HPO:probinson]"
HP:0001180,"""A developmental defect resulting in the presence of fewer than the normal number of fingers."" [HPO:probinson]"
HP:0001181,"""In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger."" [ORCID:0000-0002-6670-9157, PMID:16235349, PMID:19125433]"
HP:0001182,"""The gradual reduction in girth of the finger from proximal to distal."" [PMID:19125433]"
HP:0001187,"""The ability of the finger joints to move beyond their normal range of motion."" [HPO:curators]"
HP:0001188,"""An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted."" [HPO:sdoelken, PMID:10085502, PMID:16702456]"
HP:0001191,"""An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)."" [HPO:probinson]"
HP:0001193,Ulnar deviation of the hand or of fingers of the hand
HP:0001194,"""An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta)."" [HPO:curators]"
HP:0001195,"""Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord."" [HPO:probinson]"
HP:0001196,"""Decreased length of the umbilical cord."" [HPO:probinson]"
HP:0001197,"""An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities."" [HPO:probinson]"
HP:0001199,"""A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb."" [HPO:probinson, PMID:19125433]"
HP:0001204,"""The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases."" [HPO:sdoelken]"
HP:0001211,"""An abnormal structure of the tip (end) of a finger."" []"
HP:0001212,"""A soft tissue prominence of the ventral aspects of the fingertips. The term \""persistent fetal fingertip pads\"" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist."" [HPO:probinson]"
HP:0001215,"""The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension."" [HPO:probinson]"
HP:0001216,"""Ossification of carpal bones occurs later than age-adjusted norms."" [HPO:probinson]"
HP:0001217,"""Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails."" [HPO:sdoelken, PMID:19125433]"
HP:0001218,"""Spontaneous detachment (amputation) of an appendage from the body."" [HPO:probinson]"
HP:0001220,"""Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue."" [HPO:probinson]"
HP:0001222,"""Spoon-shaped, broad thumbs."" [HPO:curators]"
HP:0001223,"""All of the metacarpal bones of the hand have a pointed proximal appearance."" [HPO:curators]"
HP:0001225,Wrist swelling
HP:0001227,"""An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb."" [HPO:curators]"
HP:0001230,"""Abnormally broad metacarpal bones."" [HPO:probinson]"
HP:0001231,"""An abnormality of the fingernails."" [HPO:probinson]"
HP:0001232,"""Telangiectases in the area of the nails."" [HPO:probinson]"
HP:0001233,"""Syndactyly with fusion of fingers two and three."" [HPO:sdoelken]"
HP:0001234,"""With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand."" [HPO:probinson, PMID:19125433]"
HP:0001238,"""Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual."" [PMID:19125433]"
HP:0001239,"""A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist."" [HPO:probinson]"
HP:0001241,Capitate-hamate fusion
HP:0001245,"""Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb."" [HPO:probinson, PMID:19125433]"
HP:0001248,"""Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals."" [HPO:probinson]"
HP:0001249,"""Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70."" [HPO:probinson]"
HP:0001250,"""A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain."" [HPO:probinson, PMID:15816939]"
HP:0001251,"""Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)."" [HPO:probinson]"
HP:0001252,"""Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist."" [HPO:probinson, PMID:21418198]"
HP:0001254,"""A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating."" [HPO:probinson]"
HP:0001256,"""Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69."" [HPO:probinson]"
HP:0001257,"""A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes."" [HPO:probinson]"
HP:0001258,"""Spasticity and weakness of the leg and hip muscles."" [HPO:probinson]"
HP:0001259,"""Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli."" [HPO:probinson]"
HP:0001260,"""Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed."" [HPO:curators]"
HP:0001262,"""A state of abnormally strong desire for sleep during the daytime."" []"
HP:0001263,"""A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age."" [DDD:hvfirth, HPO:sdoelken]"
HP:0001264,"""Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis."" [HPO:curators]"
HP:0001265,"""Reduction of neurologic reflexes such as the knee-jerk reaction."" [HPO:probinson]"
HP:0001266,"""Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)."" [HPO:probinson]"
HP:0001268,"""Loss of previously present mental abilities, generally in adults."" [HPO:probinson]"
HP:0001269,"""Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength."" [HPO:probinson, UKB:tklockgether]"
HP:0001270,"""A type of Developmental delay characterized by a delay in acquiring motor skills."" [HPO:probinson]"
HP:0001271,"""A generalized disorder of peripheral nerves."" [HPO:curators]"
HP:0001272,"""Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event."" [HPO:probinson, PMID:12169461, PMID:26331051]"
HP:0001273,"""Abnormality of the corpus callosum."" [HPO:probinson, PMID:21263138]"
HP:0001274,"""Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline."" [HPO:curators]"
HP:0001276,"""A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move."" [HPO:probinson]"
HP:0001278,"""A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position."" [HPO:probinson]"
HP:0001279,"""Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow."" [HPO:probinson]"
HP:0001281,"""A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency."" []"
HP:0001283,"""Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia."" [HPO:curators]"
HP:0001284,"""Absence of neurologic reflexes such as the knee-jerk reaction."" [HPO:probinson]"
HP:0001285,"""Spastic weakness affecting all four limbs."" [HPO:curators]"
HP:0001287,"""Inflammation of the meninges."" [HPO:probinson]"
HP:0001288,"""The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease."" [HPO:probinson, PMID:27770207]"
HP:0001289,"""Lack of clarity and coherence of thought, perception, understanding, or action."" [HPO:curators]"
HP:0001290,"""Generalized muscular hypotonia (abnormally low muscle tone)."" [HPO:curators]"
HP:0001291,"""Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem."" [HPO:probinson]"
HP:0001293,Cranial nerve compression
HP:0001297,"""Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain."" [HPO:probinson]"
HP:0001298,"""Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state."" [HPO:probinson, KI:phemming]"
HP:0001300,"""Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait."" [HPO:probinson]"
HP:0001301,Chronic sensorineural polyneuropathy
HP:0001302,"""Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly."" [COST:neuromig, HPO:probinson, PMID:22427329]"
HP:0001304,"""Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body."" [HPO:probinson]"
HP:0001305,"""A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal."" [HPO:probinson, PMID:26246090]"
HP:0001308,"""Fasciculations or fibrillation affecting the tongue muscle."" [HPO:probinson]"
HP:0001310,"""A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements."" [HPO:probinson]"
HP:0001311,"""An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations."" [HPO:probinson]"
HP:0001312,"""An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials."" [HPO:curators]"
HP:0001315,"""Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease."" [HPO:probinson, PMID:20941667]"
HP:0001317,"""Any structural abnormality of the cerebellum."" [HPO:probinson, PMID:27160001]"
HP:0001319,"""Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period."" [HPO:curators]"
HP:0001320,"""Underdevelopment of the vermis of cerebellum."" [HPO:probinson]"
HP:0001321,"""Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time."" [HPO:probinson, PMID:26331051, PMID:27160001]"
HP:0001324,"""Reduced strength of muscles."" [HPO:probinson, PMID:15832536]"
HP:0001325,Hypoglycemic coma
HP:0001326,"""EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency."" [HPO:jalbers]"
HP:0001327,"""Generalised myoclonic seizure provoked by flashing or flickering light."" [PMID:28276060]"
HP:0001328,"""Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence."" [HPO:probinson]"
HP:0001331,"""Absence of the septum pellucidum."" [HPO:probinson]"
HP:0001332,"""An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk."" [HPO:probinson]"
HP:0001334,"""A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space."" [eMedicine:1135286, HPO:probinson]"
HP:0001335,"""Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand."" [HPO:probinson, PMID:22412265, PMID:28945198]"
HP:0001336,"""Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements."" [HPO:probinson, PMID:20589866]"
HP:0001337,"""An unintentional, oscillating to-and-fro muscle movement about a joint axis."" [HPO:probinson, PMID:16344298, PMID:20589866]"
HP:0001338,"""A partial failure of the development of the corpus callosum."" [HPO:curators]"
HP:0001339,"""A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly."" [COST:neuromig, HPO:probinson, PMID:28440899]"
HP:0001340,"""Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response."" [HPO:probinson, PMID:4819909]"
HP:0001341,Olfactory lobe agenesis
HP:0001342,"""Hemorrhage into the parenchyma of the brain."" [HPO:gcarletti]"
HP:0001343,"""Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction."" [HPO:probinson]"
HP:0001344,"""Complete lack of development of speech and language abilities."" [HPO:probinson]"
HP:0001345,Psychotic mentation
HP:0001347,"""Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles."" [HPO:probinson]"
HP:0001348,"""Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal."" []"
HP:0001349,"""Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)."" [HPO:probinson]"
HP:0001350,"""Abnormal coordination of muscles involved in speech."" [DDD:fmunitoni]"
HP:0001351,"""Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG."" [HPO:probinson, PMID:1464676]"
HP:0001355,"""Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia)."" [COST:neuromig, HPO:probinson, PMID:28658095, PMID:29594439]"
HP:0001357,"""Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape."" [PMID:19125436]"
HP:0001360,"""Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles."" [HPO:probinson]"
HP:0001361,"""Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision."" [HPO:probinson]"
HP:0001362,"""A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year."" [HPO:probinson]"
HP:0001363,"""Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth."" [HPO:probinson]"
HP:0001367,"""An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join."" [HPO:probinson]"
HP:0001369,"""Inflammation of a joint."" [HPO:probinson]"
HP:0001370,"""Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures."" [HPO:probinson]"
HP:0001371,"""A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints."" [HPO:probinson]"
HP:0001373,"""Displacement or malalignment of joints."" [HPO:curators]"
HP:0001374,Congenital hip dislocation
HP:0001376,"""A reduction in the freedom of movement of one or more joints."" [HPO:probinson]"
HP:0001377,"""Limited ability to straighten the arm at the elbow joint."" [HPO:probinson]"
HP:0001382,"""The ability of a joint to move beyond its normal range of motion."" [HPO:probinson]"
HP:0001384,"""An abnormality of the hip joint."" [HPO:probinson]"
HP:0001385,"""The presence of developmental dysplasia of the hip."" [HPO:probinson]"
HP:0001386,Joint swelling
HP:0001387,"""Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time."" [HPO:probinson]"
HP:0001388,"""Lack of stability of a joint."" [HPO:probinson]"
HP:0001392,"""An abnormality of the liver."" [HPO:probinson]"
HP:0001394,"""A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function."" [HPO:probinson]"
HP:0001395,"""The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process."" [HPO:probinson]"
HP:0001396,"""Impairment of bile flow due to obstruction in bile ducts."" [HPO:probinson]"
HP:0001397,"""Steatosis is a term used to denote lipid accumulation within hepatocytes."" [HPO:probinson, PMID:31603713]"
HP:0001399,Hepatic failure
HP:0001401,Intrahepatic biliary dysgenesis
HP:0001402,"""A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver."" [HPO:probinson]"
HP:0001403,"""A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes."" [HPO:probinson]"
HP:0001404,Hepatocellular necrosis
HP:0001405,"""The presence of fibrosis affecting the interlobular stroma of liver."" [HPO:probinson]"
HP:0001406,"""Impairment of bile flow due to obstruction in the small bile ducts within the liver."" [HPO:probinson]"
HP:0001407,Hepatic cysts
HP:0001408,"""Proliferative changes of the bile ducts."" [HPO:probinson]"
HP:0001409,"""Increased pressure in the portal vein."" [HPO:probinson]"
HP:0001410,"""Reduced ability of the liver to perform its functions."" [HPO:probinson]"
HP:0001412,"""Inflammation of the liver due to infection with enterovirus."" [PMID:15056237]"
HP:0001413,"""A type of cirrhosis characterized by the presence of small regenerative nodules."" [HPO:probinson]"
HP:0001414,"""A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes."" [HPO:probinson]"
HP:0001417,"""A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome."" [HPO:curators]"
HP:0001419,"""A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele."" [HPO:probinson]"
HP:0001421,Abnormality of the musculature of the hand
HP:0001423,"""A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation."" [HPO:curators]"
HP:0001426,"""A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases."" [HPO:probinson]"
HP:0001427,"""A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)."" [HPO:probinson]"
HP:0001428,"""A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation."" []"
HP:0001430,Abnormality of the calf musculature
HP:0001433,"""Simultaneous enlargement of the liver and spleen."" [HPO:probinson]"
HP:0001435,Abnormality of the shoulder girdle musculature
HP:0001436,"""An anomaly of the musculature of foot."" [HPO:probinson]"
HP:0001437,Abnormality of the musculature of the lower limbs
HP:0001438,"""A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax."" [HPO:probinson]"
HP:0001440,Metatarsal synostosis
HP:0001441,Abnormality of the musculature of the thigh
HP:0001442,"""The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations."" [HPO:probinson, PMID:12360233]"
HP:0001443,Abnormality of the gluteal musculature
HP:0001444,"""Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body."" []"
HP:0001445,Abnormality of the hip-girdle musculature
HP:0001446,Abnormality of the musculature of the upper limbs
HP:0001449,Duplication of metatarsal bones
HP:0001450,"""A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome."" [HPO:probinson]"
HP:0001454,Abnormality of the upper arm
HP:0001457,Abnormality of the musculature of the upper arm
HP:0001459,"""Syndactyly with fusion of toes one to three."" [HPO:sdoelken]"
HP:0001460,"""Absence or underdevelopment of the musculature."" [HPO:curators]"
HP:0001464,"""Absence or underdevelopment of the muscles of the shoulder."" [HPO:curators]"
HP:0001465,Amyotrophy involving the shoulder musculature
HP:0001466,"""A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes"" []"
HP:0001467,"""Absence or underdevelopment of the musculature of the upper limbs."" [HPO:curators]"
HP:0001468,"""Absence or underdevelopment of the muscles of the upper arm."" [HPO:curators]"
HP:0001469,Abnormal morphology of the pelvis musculature
HP:0001470,"""Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex."" []"
HP:0001471,Aplasia/Hypoplasia of the musculature of the pelvis
HP:0001473,"""Osteolysis involving metatarsal bones."" [HPO:probinson]"
HP:0001474,"""Increased density of the bony tissue of the scapula."" [HPO:probinson]"
HP:0001475,"""Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex."" []"
HP:0001476,"""A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life."" [HPO:probinson]"
HP:0001477,"""A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement."" [HPO:probinson]"
HP:0001480,"""The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin."" []"
HP:0001482,"""Slightly elevated lesions on or in the skin with a diameter of over 5 mm."" [HPO:probinson]"
HP:0001483,"""Repetitive pressing, poking, and/or rubbing in the eyes."" [HPO:probinson, PMID:8881355]"
HP:0001488,Bilateral ptosis
HP:0001489,"""Separation of the vitreous humor from the retina."" [HPO:probinson, PMID:24376338]"
HP:0001491,"""Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements."" [HPO:probinson]"
HP:0001492,"""Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line."" [HPO:probinson]"
HP:0001493,"""An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset."" [HPO:probinson]"
HP:0001495,"""Osteolysis affecting carpal bones."" [HPO:probinson]"
HP:0001498,"""Underdevelopment of one or more carpal bones."" [HPO:probinson]"
HP:0001500,"""Increased width of a non-thumb digit of the hand."" [PMID:19125433]"
HP:0001501,6 metacarpals
HP:0001504,Metacarpal osteolysis
HP:0001507,Growth abnormality
HP:0001508,"""Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm."" [HPO:probinson]"
HP:0001510,"""A deficiency or slowing down of growth pre- and postnatally."" [HPO:probinson]"
HP:0001511,"""An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age."" [HPO:probinson]"
HP:0001513,"""Accumulation of substantial excess body fat."" []"
HP:0001518,"""Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age."" [DDD:hfirth]"
HP:0001519,"""A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim."" [DDD:hfirth, HPO:probinson]"
HP:0001520,"""The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age."" [eMedicine:262679, HPO:probinson]"
HP:0001522,"""Death within the first 24 months of life."" [HPO:probinson]"
HP:0001525,Severe failure to thrive
HP:0001528,"""Overgrowth of only one side of the body."" [HPO:probinson]"
HP:0001530,"""A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms."" [DDD:hfirth]"
HP:0001531,Failure to thrive in infancy
HP:0001533,"""Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones."" [HPO:probinson]"
HP:0001537,"""Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect."" [HPO:probinson]"
HP:0001538,"""A thrusting or bulging out of the abdomen."" [HPO:probinson]"
HP:0001539,"""A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord."" [HPO:probinson]"
HP:0001540,"""A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba)."" [HPO:probinson]"
HP:0001541,"""Accumulation of fluid in the peritoneal cavity."" [HPO:probinson]"
HP:0001543,"""A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus."" [HPO:probinson]"
HP:0001544,"""Abnormally prominent umbilicus (belly button)."" [HPO:curators]"
HP:0001545,"""Anterior malposition of the anus."" [HPO:probinson]"
HP:0001547,"""A morphological anomaly of the rib cage."" [HPO:probinson]"
HP:0001548,"""Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference."" [HPO:probinson]"
HP:0001549,Abnormal ileum morphology
HP:0001551,"""An abnormality of the structure or appearance of the umbilicus."" [HPO:probinson]"
HP:0001552,"""A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis."" [HPO:probinson]"
HP:0001555,"""Lack of symmetry between the left and right halves of the thorax."" [HPO:probinson]"
HP:0001557,"""An abnormality of fetal movement."" [HPO:probinson]"
HP:0001558,"""An abnormal reduction in quantity or strength of fetal movements."" [HPO:curators]"
HP:0001560,"""Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus."" [HPO:curators]"
HP:0001561,"""The presence of excess amniotic fluid in the uterus during pregnancy."" [HPO:probinson]"
HP:0001562,"""Diminished amniotic fluid volume in pregnancy."" [HPO:probinson]"
HP:0001563,"""Abnormally increased production of urine by the fetus resulting in polyhydramnios."" [HPO:probinson, PMID:21460147]"
HP:0001566,"""Increased distance between the maxillary central permanent incisor tooth."" [HPO:ibailleulforestier]"
HP:0001571,"""The presence of multiple impacted teeth."" [HPO:ibailleulforestier]"
HP:0001572,"""Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth."" [HPO:ibailleulforestier, PMID:19125428]"
HP:0001574,"""An abnormality of the integument, which consists of the skin and the superficial fascia."" [HPO:probinson]"
HP:0001579,"""Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol."" [HPO:probinson]"
HP:0001580,Pigmented micronodular adrenocortical disease
HP:0001581,"""Infections of the skin that happen multiple times."" [HPO:curators]"
HP:0001582,"""Loose and sagging skin often associated with loss of skin elasticity."" [HPO:probinson]"
HP:0001583,"""A form of nystagmus in which the eyeball makes rotary motions around the axis."" [HPO:probinson]"
HP:0001586,"""The presence of a fistula connecting the urinary bladder to the vagina."" [HPO:probinson]"
HP:0001591,"""The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter."" [HPO:probinson]"
HP:0001592,"""Agenesis specifically affecting one of the classes incisor, premolar, or molar."" [HPO:ibailleulforestier]"
HP:0001593,"""Decreased size of the maxillary permanent incisor."" [HPO:ibailleulforestier]"
HP:0001595,"""An abnormality of the hair."" [HPO:probinson]"
HP:0001596,"""A noncongenital process of hair loss, which may progress to partial or complete baldness."" [PMID:14676077]"
HP:0001597,"""Abnormality of the nail."" [HPO:probinson]"
HP:0001598,"""The natural longitudinal (posterodistal) convex arch is not present or is inverted."" [PMID:19125433]"
HP:0001600,"""An abnormality of the larynx."" [HPO:probinson]"
HP:0001601,"""Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration."" [HPO:probinson]"
HP:0001602,"""Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing."" [HPO:probinson]"
HP:0001604,"""Decreased strength of the vocal folds."" [HPO:probinson]"
HP:0001605,"""A loss of the ability to move the vocal folds."" [HPO:probinson]"
HP:0001607,Subglottic stenosis
HP:0001608,Abnormality of the voice
HP:0001609,"""Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky."" [HPO:probinson]"
HP:0001611,"""A type of speech characterized by the presence of an abnormally increased nasal airflow during speech."" [HPO:sdoelken]"
HP:0001612,Weak cry
HP:0001615,Hoarse cry
HP:0001618,"""An impairment in the ability to produce voice sounds."" [HPO:probinson]"
HP:0001620,"""An abnormal increase in the pitch (frequency) of the voice."" [HPO:probinson]"
HP:0001621,"""Reduced intensity (volume) of speech."" [HPO:probinson]"
HP:0001622,"""The birth of a baby of less than 37 weeks of gestational age."" [HPO:probinson]"
HP:0001623,"""A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first."" [HPO:probinson]"
HP:0001626,"""Any abnormality of the cardiovascular system."" [HPO:probinson]"
HP:0001627,"""Any structural anomaly of the heart."" [HPO:probinson]"
HP:0001629,"""A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum."" [HPO:probinson, PMID:33327983]"
HP:0001631,"""Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum."" [DDD:dbrown, HPO:probinson]"
HP:0001633,"""Any structural anomaly of the mitral valve."" [HPO:probinson]"
HP:0001634,"""One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle."" [HPO:probinson]"
HP:0001635,"""The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction."" [HPO:probinson]"
HP:0001636,"""A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present."" [HPO:probinson]"
HP:0001637,"""A structural anomaly of the muscle layer of the heart wall."" []"
HP:0001638,"""A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality."" [HPO:probinson, PMID:17916581]"
HP:0001639,"""Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality."" [PMID:17916581]"
HP:0001640,"""Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography."" [HPO:probinson, PMID:31194436]"
HP:0001641,"""Any structural abnormality of the pulmonary valve."" [HPO:probinson]"
HP:0001642,"""A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis)."" [HPO:probinson]"
HP:0001643,"""In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences."" [HPO:probinson, PMID:20421261]"
HP:0001644,"""Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis."" [PMID:17916581]"
HP:0001645,"""The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)."" [HPO:probinson]"
HP:0001646,"""Any abnormality of the aortic valve."" [HPO:curators]"
HP:0001647,"""The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps)."" [HPO:probinson, PMID:17467434, PMID:24827036]"
HP:0001648,"""Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle."" [HPO:probinson]"
HP:0001649,"""A rapid heartrate that exceeds the range of the normal resting heartrate for age."" [HPO:probinson]"
HP:0001650,"""The presence of a stenosis (narrowing) of the aortic valve."" [HPO:probinson]"
HP:0001651,"""The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \""mirror reflection\"") of the anatomical location of the heart in which the heart is locate on the right side instead of the left."" [DDD:dbrown, HPO:sdoelken]"
HP:0001653,"""An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction."" [HPO:probinson]"
HP:0001654,"""Any structural abnormality of a cardiac valve."" [HPO:probinson]"
HP:0001655,"""Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria."" [DDD:dbrown, HPO:probinson]"
HP:0001657,"""Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)."" [HPO:probinson]"
HP:0001658,"""Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin."" [HPO:probinson]"
HP:0001659,"""An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle."" [HPO:probinson]"
HP:0001660,"""A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract."" [DDD:dbrown, HPO:probinson]"
HP:0001662,"""A slower than normal heart rate (in adults, slower than 60 beats per minute)."" [HPO:probinson]"
HP:0001663,"""Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations."" [HPO:probinson]"
HP:0001664,"""A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG."" [HPO:probinson]"
HP:0001667,"""In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal."" [HPO:probinson]"
HP:0001669,"""A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle."" [eMedicine:900574, HPO:probinson, PMID:10798431]"
HP:0001670,"""Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray."" [HPO:probinson, PMID:17916581]"
HP:0001671,"""An anomaly of the intra-atrial or intraventricular septum."" [HPO:probinson]"
HP:0001674,"""A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect."" [DDD:dbrown, HPO:probinson, PMID:16722604]"
HP:0001677,"""Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia."" [HPO:probinson]"
HP:0001678,"""Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles."" [HPO:probinson]"
HP:0001679,"""An abnormality of the aorta."" [HPO:probinson, PMID:24910511]"
HP:0001680,"""Coarctation of the aorta is a narrowing or constriction of a segment of the aorta."" [HPO:probinson, PMID:23909637]"
HP:0001681,"""Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia."" [HPO:probinson]"
HP:0001682,"""A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve."" [HPO:probinson]"
HP:0001683,"""Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall."" [DDD:dbrown]"
HP:0001684,"""A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum."" [DDD:dbrown, HPO:probinson]"
HP:0001685,"""Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts."" [PMID:28157267]"
HP:0001686,Loss of voice
HP:0001688,"""Bradycardia related to a mean resting sinus rate of less than 50 beats per minute."" [HPO:probinson]"
HP:0001691,"""A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract."" [HPO:probinson]"
HP:0001692,"""A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance."" [DDD:dbrown]"
HP:0001693,"""Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system."" [HPO:probinson]"
HP:0001694,"""Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left."" [HPO:mhaendel]"
HP:0001695,"""An abrupt loss of heart function."" []"
HP:0001696,"""A left-right reversal (or \""mirror reflection\"") of the anatomical location of the major thoracic and abdominal organs."" [DDD:dbrown, HPO:probinson]"
HP:0001697,"""An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery."" [HPO:probinson]"
HP:0001698,"""Accumulation of fluid within the pericardium."" [HPO:probinson]"
HP:0001699,"""Rapid and unexpected death."" [HPO:probinson]"
HP:0001700,"""Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction)."" [PMID:20405318]"
HP:0001701,"""Inflammation of the sac-like covering around the heart (pericardium)."" [HPO:probinson]"
HP:0001702,"""Any structural anomaly of the tricuspid valve."" [HPO:probinson]"
HP:0001704,"""One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle."" [HPO:probinson]"
HP:0001705,"""An obstruction to the forward flow of blood in the outflow tract of the right ventricle."" [PMID:30038501]"
HP:0001706,"""Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction"" [PMID:23109776]"
HP:0001707,"""An abnormality of the right ventricle of the heart."" [HPO:probinson]"
HP:0001708,"""Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly."" [HPO:probinson]"
HP:0001709,"""Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them."" [PMID:21841933]"
HP:0001710,"""A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle."" [HPO:probinson]"
HP:0001711,"""Any structural abnormality of the left ventricle of the heart."" [HPO:probinson]"
HP:0001712,"""Enlargement or increased size of the heart left ventricle."" [MP:0002625]"
HP:0001713,"""An abnormality of a cardiac ventricle."" [HPO:probinson]"
HP:0001714,"""Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy."" [HPO:probinson]"
HP:0001716,"""A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."" [HPO:probinson]"
HP:0001717,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery."" [HPO:probinson]"
HP:0001718,"""An abnormal narrowing of the orifice of the mitral valve."" [DDD:dbrown]"
HP:0001719,"""Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle."" [HPO:probinson, PMID:10798433]"
HP:0001722,"""A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others."" [HPO:curators]"
HP:0001723,"""Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness."" [HPO:probinson, PMID:17916581]"
HP:0001727,"""A cerebrovascular accident (stroke) that occurs because of thromboembolism."" [HPO:probinson]"
HP:0001730,"""A progressive form of hearing impairment."" [HPO:probinson]"
HP:0001732,"""An abnormality of the pancreas."" [HPO:probinson]"
HP:0001733,"""The presence of inflammation in the pancreas."" [HPO:probinson]"
HP:0001734,"""A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum."" [HPO:probinson]"
HP:0001735,"""A acute form of pancreatitis."" [HPO:probinson]"
HP:0001737,"""A cyst of the pancreas that possess a lining of mucous epithelium."" [HPO:probinson]"
HP:0001738,"""Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes."" [HPO:probinson]"
HP:0001739,"""A structural anomaly of the nasopharynx."" []"
HP:0001741,"""The male foreskin cannot be fully retracted from the head of the penis."" [HPO:sdoelken]"
HP:0001742,"""Reduced ability to pass air through the nasal cavity often leading to mouth breathing."" [HPO:probinson]"
HP:0001743,"""An abnormality of the spleen."" [HPO:probinson]"
HP:0001744,"""Abnormal increased size of the spleen."" [HPO:probinson]"
HP:0001746,"""Absence (aplasia) of the spleen."" [HPO:curators]"
HP:0001747,"""An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance."" [HPO:probinson]"
HP:0001748,"""Polysplenia is a congenital disease manifested by multiple small accessory spleens."" [HPO:curators]"
HP:0001750,"""The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle."" [MP:0010432]"
HP:0001751,"""An abnormality of the functioning of the vestibular apparatus."" [HPO:probinson]"
HP:0001756,"""Reduced functioning of the vestibular apparatus."" [HPO:probinson]"
HP:0001757,"""A form of sensorineural hearing impairment that affects primarily the higher frequencies."" [HPO:probinson]"
HP:0001760,"""An abnormality of the skeleton of foot."" [HPO:probinson]"
HP:0001761,"""The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight."" [HPO:probinson, PMID:19125433]"
HP:0001762,"""Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg."" [HPO:probinson, PMID:32491773]"
HP:0001763,"""A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced."" [HPO:probinson, PMID:19125433]"
HP:0001765,"""Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint."" [PMID:19125433]"
HP:0001769,"""A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length."" [PMID:19125433]"
HP:0001770,"""Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \""bony\"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \""Symphalangism\""."" [HPO:curators]"
HP:0001771,"""A contracture of the Achilles tendon."" [HPO:probinson]"
HP:0001772,"""A deformity of foot and ankle in which the foot is bent down and outwards."" [HPO:probinson]"
HP:0001773,"""A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)."" [HPO:probinson, PMID:19125433]"
HP:0001775,Tarsal osteovalgus
HP:0001776,"""Bilateral clubfoot deformity (see HP:0001762)."" [HPO:probinson]"
HP:0001780,"""An anomaly of a toe."" [HPO:probinson]"
HP:0001782,"""An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous."" [HPO:probinson]"
HP:0001783,"""Increased side-to-side width of a metatarsal bone."" [HPO:probinson]"
HP:0001785,Ankle swelling
HP:0001786,"""A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length."" [PMID:19125433]"
HP:0001787,"""An abnormality of the birth process."" [HPO:probinson]"
HP:0001788,"""Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor."" [HPO:probinson]"
HP:0001789,"""The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema."" [HPO:probinson]"
HP:0001790,"""A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens ."" [HPO:probinson]"
HP:0001791,"""Accumulation of fluid in the peritoneal cavity during the fetal period."" [HPO:probinson]"
HP:0001792,"""A nail that is diminished in length and width, i.e., underdeveloped nail."" [HPO:probinson, PMID:19125433]"
HP:0001795,"""When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity."" [HPO:probinson, PMID:19125433]"
HP:0001798,"""Aplasia of the nail."" [HPO:probinson]"
HP:0001799,"""Decreased length of nail."" [PMID:19125433]"
HP:0001800,"""Underdevelopment of the toenail."" [HPO:probinson]"
HP:0001802,"""Congenital absence of the toenail."" [HPO:probinson]"
HP:0001803,"""Small (typically about 1 mm or less in size) depressions on the dorsal nail surface."" [PMID:19125433]"
HP:0001804,"""Underdevelopment of a fingernail."" [HPO:curators]"
HP:0001805,"""Nail that appears thick when viewed on end."" [PMID:19125433]"
HP:0001806,"""Detachment of the nail from the nail bed."" [HPO:probinson]"
HP:0001807,"""Longitudinal, linear prominences in the nail plate."" [PMID:19125433]"
HP:0001808,"""Nails that easily break."" [HPO:probinson]"
HP:0001809,"""A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature."" [PMID:19125433]"
HP:0001810,"""Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate."" [HPO:probinson]"
HP:0001812,"""When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity."" [HPO:probinson, PMID:19125433]"
HP:0001814,"""Deeply placed nails."" [HPO:probinson]"
HP:0001816,"""Nail that appears thin when viewed on end."" [HPO:probinson, PMID:19125433]"
HP:0001817,"""Absence of a fingernail."" [HPO:probinson]"
HP:0001818,"""The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)."" [HPO:probinson]"
HP:0001820,"""White discoloration of the nails."" [HPO:probinson]"
HP:0001821,"""Increased width of nail."" [HPO:probinson]"
HP:0001822,"""Lateral deviation of the great toe (i.e., in the direction of the little toe)."" [HPO:curators]"
HP:0001824,"""Reduction of total body weight."" [HPO:probinson]"
HP:0001827,"""Congenital occlusion of a tube in the genital tract."" [HPO:probinson]"
HP:0001829,"""A kind of polydactyly characterized by the presence of a supernumerary toe or toes."" [HPO:probinson]"
HP:0001830,"""Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit."" [HPO:curators]"
HP:0001831,"""A toe that appears disproportionately short compared to the foot."" [HPO:probinson]"
HP:0001832,"""Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)."" [HPO:probinson]"
HP:0001833,"""Increased back to front length of the foot."" [UHPO:probinson]"
HP:0001836,"""Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes."" [HPO:probinson]"
HP:0001837,"""Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension."" [PMID:19125433]"
HP:0001838,"""The presence of both a prominent heel and a convex contour of the sole."" [HPO:probinson, PMID:19125433]"
HP:0001839,"""A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet."" [HPO:sdoelken]"
HP:0001840,"""The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body."" [HPO:probinson, PMID:19125433]"
HP:0001841,"""Duplication of all or part of the first ray."" [HPO:probinson, PMID:19125433]"
HP:0001842,Foot acroosteolysis
HP:0001844,"""This term applies for all abnormalities of the big toe, also called hallux."" [HPO:probinson]"
HP:0001845,"""Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent."" [HPO:probinson, PMID:19125433]"
HP:0001847,"""Increased length of the big toe."" [HPO:probinson]"
HP:0001848,"""This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus)."" [HPO:probinson]"
HP:0001849,"""A developmental defect resulting in the presence of fewer than the normal number of toes."" [HPO:probinson]"
HP:0001850,"""An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone."" [HPO:curators]"
HP:0001852,"""A widely spaced gap between the first toe (the great toe) and the second toe."" [HPO:probinson, PMID:19125433]"
HP:0001853,Bifid distal phalanx of toe
HP:0001854,"""Gout affecting the Metatarsophalangeal joint of big toe."" [HPO:sdoelken]"
HP:0001857,"""Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe."" [PMID:19125433]"
HP:0001859,Distal foot symphalangism
HP:0001863,"""Bending or curvature of a toe in the tibial direction (i.e., towards the big toe)."" [HPO:probinson]"
HP:0001864,"""Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe)."" [HPO:probinson]"
HP:0001868,"""Spontaneous detachment of a foot from the body."" [HPO:probinson]"
HP:0001869,"""The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot."" [HPO:probinson]"
HP:0001870,Acroosteolysis of distal phalanges (feet)
HP:0001871,"""An abnormality of the hematopoietic system."" [HPO:probinson]"
HP:0001872,"""An abnormality of platelets."" [HPO:probinson]"
HP:0001873,"""A reduction in the number of circulating thrombocytes."" [HPO:probinson]"
HP:0001874,"""A neutrophil abnormality."" [HPO:probinson, PMID:21094463, PMID:26819959]"
HP:0001875,"""An abnormally low number of neutrophils in the peripheral blood."" [HPO:probinson, PMID:25642312]"
HP:0001876,"""An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)."" [HPO:probinson]"
HP:0001877,"""Any structural abnormality of erythrocytes (red-blood cells)."" [HPO:probinson]"
HP:0001878,"""A type of anemia caused by premature destruction of red blood cells (hemolysis)."" [HPO:probinson]"
HP:0001879,"""An abnormal count or structure of eosinophils."" [HPO:probinson, PMID:23154224]"
HP:0001880,"""Increased count of eosinophils in the blood."" [HPO:sdoelken]"
HP:0001881,"""An abnormality of leukocytes."" [HPO:probinson]"
HP:0001882,"""An abnormal decreased number of leukocytes in the blood."" [HPO:probinson]"
HP:0001883,"""A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus."" [HPO:sdoelken]"
HP:0001884,"""Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \""up and out\"" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg."" [HPO:curators]"
HP:0001885,"""Underdevelopment (hypoplasia) of the second toe."" [HPO:probinson]"
HP:0001886,"""An infection of bone of the foot."" []"
HP:0001888,"""A reduced number of lymphocytes in the blood."" [HPO:probinson]"
HP:0001889,"""Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)."" [HPO:probinson]"
HP:0001890,"""An autoimmune form of hemolytic anemia."" [HPO:probinson]"
HP:0001891,Iron deficiency anemia
HP:0001892,"""An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects."" [HPO:probinson]"
HP:0001894,"""Increased numbers of platelets in the peripheral blood."" [HPO:probinson]"
HP:0001895,Normochromic anemia
HP:0001896,"""A reduced number of reticulocytes in the peripheral blood."" [HPO:probinson]"
HP:0001897,"""A kind of anemia in which the volume of the red blood cells is normal."" [HPO:probinson]"
HP:0001898,"""The presence of an increased mass of red blood cells in the circulation."" [HPO:probinson]"
HP:0001899,"""An elevation above the normal ratio of the volume of red blood cells to the total volume of blood."" [HPO:probinson]"
HP:0001900,Increased hemoglobin
HP:0001901,"""Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal."" [HPO:probinson]"
HP:0001902,"""Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998)."" [HPO:probinson]"
HP:0001903,"""A reduction in erythrocytes volume or hemoglobin concentration."" [HPO:probinson]"
HP:0001904,"""A type of neutropenia that is observed in the presence of granulocyte-specific antibodies."" [HPO:probinson, PMID:25642312]"
HP:0001905,"""Thrombocytopenia with congenital onset."" [HPO:probinson]"
HP:0001907,"""The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site."" [HPO:probinson]"
HP:0001908,"""Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia."" [HPO:probinson]"
HP:0001909,"""A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes."" [HPO:probinson, NCIT:C3161]"
HP:0001911,"""Any structural abnormality or abnormal count of granulocytes."" [HPO:probinson]"
HP:0001912,"""Any structural abnormality or abnormal count of basophils."" [HPO:probinson, PMID:24075190]"
HP:0001913,"""An abnormally reduced number of granulocytes in the blood."" [HPO:probinson]"
HP:0001915,"""Aplastic anemia is defined as pancytopenia with a hypocellular marrow."" [HPO:probinson, PMID:21239768]"
HP:0001917,"""A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856)."" [HPO:probinson, PMID:25852856]"
HP:0001919,"""Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)."" [HPO:probinson]"
HP:0001920,"""The presence of stenosis of the renal artery."" [HPO:probinson]"
HP:0001922,"""The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm."" [HPO:probinson, PMID:20633042]"
HP:0001923,"""An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation."" [HPO:probinson]"
HP:0001924,"""Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)."" [HPO:probinson]"
HP:0001927,"""Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars."" [HPO:probinson]"
HP:0001928,"""An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot."" [HPO:probinson]"
HP:0001929,"""Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX."" [HPO:probinson]"
HP:0001930,Nonspherocytic hemolytic anemia
HP:0001931,"""A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes."" [HPO:probinson]"
HP:0001933,"""This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)."" [HPO:probinson]"
HP:0001934,Persistent bleeding after trauma
HP:0001935,"""A kind of anemia in which the volume of the red blood cells is reduced."" [HPO:probinson]"
HP:0001937,Microangiopathic hemolytic anemia
HP:0001939,Abnormality of metabolism/homeostasis
HP:0001941,"""Abnormal acid accumulation or depletion of base."" [HPO:probinson, PMID:24381489]"
HP:0001942,"""Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause."" [HPO:probinson, PMID:17936961, PMID:31418093]"
HP:0001943,"""A decreased concentration of glucose in the blood."" [HPO:curators]"
HP:0001944,Dehydration
HP:0001945,"""Body temperature elevated above the normal range."" [HPO:sdoelken, PMID:9759682]"
HP:0001946,"""Presence of elevated levels of ketone bodies in the body."" [HPO:probinson, PMID:28278308]"
HP:0001947,"""Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis."" [HPO:probinson]"
HP:0001948,"""Depletion of acid or accumulation base in the body fluids."" [HPO:probinson, PMID:24381489]"
HP:0001949,Hypokalemic alkalosis
HP:0001950,"""Alkalosis due to excess loss of carbon dioxide from the body."" [HPO:probinson]"
HP:0001951,Episodic ammonia intoxication
HP:0001952,"""Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM)."" [PMID:29763085]"
HP:0001953,"""A type of diabetic metabolic abnormality with an accumulation of ketone bodies."" [HPO:probinson]"
HP:0001954,"""Periodic (episodic or recurrent) bouts of fever."" [HPO:probinson]"
HP:0001955,"""Episodes of fever for which no infectious cause can be identified."" [HPO:curators]"
HP:0001956,"""Obesity located preferentially in the trunk of the body as opposed to the extremities."" [HPO:probinson]"
HP:0001958,Nonketotic hypoglycemia
HP:0001959,"""Excessive thirst manifested by excessive fluid intake."" []"
HP:0001960,Hypokalemic metabolic alkalosis
HP:0001961,Hypoplastic heart
HP:0001962,"""A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia."" [HPO:probinson]"
HP:0001963,"""A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss."" [HPO:curators]"
HP:0001964,"""Absence or underdevelopment of the metatarsal bones."" [HPO:curators]"
HP:0001965,"""Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows."" [HPO:probinson]"
HP:0001966,"""An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries."" [HPO:probinson, PMID:19470685, PMID:20828589]"
HP:0001967,"""Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion."" [HPO:probinson]"
HP:0001969,"""An abnormality that involves the tubules and interstitial tissue of the kidney."" [HPO:probinson]"
HP:0001970,"""A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules."" [HP:probinson]"
HP:0001971,"""A malfunctioning of the spleen in which it prematurely destroys red blood cells."" [HPO:probinson]"
HP:0001972,"""A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)."" [HPO:probinson, PMID:19202968]"
HP:0001973,"""The presence of thrombocytopenia in combination with detection of antiplatelet antibodies."" [DDD:wouwehand]"
HP:0001974,"""An abnormal increase in the number of leukocytes in the blood."" [HPO:probinson]"
HP:0001975,"""Decreased cell membrane concentration of glycoprotein IIb-IIIa."" [DDD:ouwehand]"
HP:0001976,"""An abnormality of coagulation related to a decreased concentration of antithrombin-III."" [HPO:probinson]"
HP:0001977,"""Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)."" [HPO:probinson]"
HP:0001978,"""The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms."" [HPO:probinson]"
HP:0001980,"""Abnormal increased number of megaloblasts in the bone marrow."" [HPO:probinson]"
HP:0001981,"""The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood."" [HPO:probinson]"
HP:0001982,"""An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa."" [HPO:probinson, PMID:8797061]"
HP:0001983,"""A reduction in the expression of CD43 on the cell surface of lymphocytes."" [HPO:probinson]"
HP:0001984,Intolerance to protein
HP:0001985,"""A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies."" [HPO:probinson]"
HP:0001986,Hypertonic dehydration
HP:0001987,"""An increased concentration of ammonia in the blood."" [HPO:gcarletti]"
HP:0001988,"""Recurrent episodes of decreased concentration of glucose in the blood."" [HPO:gcarletti]"
HP:0001989,"""Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia)."" [HPO:probinson]"
HP:0001991,"""Absence or hypoplasia of toes."" [HPO:probinson]"
HP:0001992,"""Excretion of non-amino organic acids in urine."" [HPO:probinson]"
HP:0001993,"""Acidosis resulting from accumulation of ketone bodies."" [HPO:probinson]"
HP:0001994,"""An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water."" [HPO:probinson]"
HP:0001995,"""Acidosis (pH less than 7.35) that develops with an increase in ionic chloride."" [PMID:29493965]"
HP:0001996,"""Longstanding metabolic acidosis."" [HPO:probinson, PMID:15882309]"
HP:0001997,"""Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues."" [HPO:sdoelken]"
HP:0001998,Neonatal hypoglycemia
HP:0001999,"""An abnormal morphology (form) of the face or its components."" [DDD:jclayton-smith]"
HP:0002000,"""Reduced distance from the anterior border of the naris to the subnasale."" [PMID:19152422]"
HP:0002002,"""Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border."" [PMID:19152422]"
HP:0002003,Large forehead
HP:0002006,"""A congenital malformation with a cleft (gap or opening) in the face."" [HPO:probinson]"
HP:0002007,"""Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline."" [PMID:19125436]"
HP:0002009,"""A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose."" [HPO:probinson]"
HP:0002010,Narrow maxilla
HP:0002011,"""A structural abnormality of the central nervous system."" [HPO:probinson]"
HP:0002012,"""An abnormality of the viscera of the abdomen."" [HPO:probinson]"
HP:0002013,"""Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions."" [HPO:probinson]"
HP:0002014,"""Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day."" [HPO:probinson]"
HP:0002015,"""Difficulty in swallowing."" [HPO:probinson]"
HP:0002017,"""Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea."" [PMID:26770271]"
HP:0002018,"""A sensation of unease in the stomach together with an urge to vomit."" [HPO:probinson, PMID:26770271]"
HP:0002019,"""Infrequent or difficult evacuation of feces."" [HPO:probinson]"
HP:0002020,"""A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter."" [HPO:probinson]"
HP:0002021,"""Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss."" [HPO:probinson, PMID:32310391]"
HP:0002023,"""Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract."" [HPO:probinson]"
HP:0002024,"""Impaired ability to absorb one or more nutrients from the intestine."" [HPO:probinson]"
HP:0002025,"""Abnormal narrowing of the anal opening."" [HPO:probinson]"
HP:0002027,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen."" [HPO:probinson]"
HP:0002028,"""The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks."" [HPO:probinson]"
HP:0002031,"""A structural abnormality of the esophagus."" [HPO:probinson]"
HP:0002032,"""A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach."" [HPO:curators]"
HP:0002033,"""An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed."" [HPO:pnrobinson]"
HP:0002034,"""An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus."" [HPO:probinson]"
HP:0002035,"""Protrusion of the rectal mucous membrane through the anus."" [HPO:probinson]"
HP:0002036,"""The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus."" [HPO:probinson]"
HP:0002037,"""Inflammation, or an inflammatory state in the large intestine."" []"
HP:0002038,Protein avoidance
HP:0002039,"""A lack or loss of appetite for food (as a medical condition)."" [HPO:probinson]"
HP:0002040,"""Extreme dilation of the submucusoal veins in the lower portion of the esophagus."" [HPO:probinson]"
HP:0002041,Intractable diarrhea
HP:0002043,"""A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen."" [HPO:probinson]"
HP:0002044,"""A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration."" [HPO:probinson]"
HP:0002045,"""Reduced body temperature due to failed thermoregulation."" [HPO:sdoelken]"
HP:0002046,"""The inability to maintain a comfortable body temperature in warm or hot weather."" [HPO:probinson]"
HP:0002047,"""Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine."" [HPO:curators]"
HP:0002048,"""Atrophy of the cortex of the kidney."" [HPO:probinson]"
HP:0002049,"""A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia."" [HPO:probinson]"
HP:0002050,"Macroorchidism, postpubertal"
HP:0002054,Heavy supraorbital ridges
HP:0002055,Curved linear dimple below the lower lip
HP:0002056,"""An abnormality of the glabella."" [HPO:probinson]"
HP:0002057,"""Forward protrusion of the glabella."" [HPO:probinson, PMID:19125436]"
HP:0002058,"""A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness."" [HPO:curators]"
HP:0002059,"""Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum."" [HPO:sdoelken]"
HP:0002060,"""Any structural abnormality of the telencephalon, which is also known as the cerebrum."" [HPO:probinson]"
HP:0002061,"""Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis"" [HPO:probinson, UKT:rschuele]"
HP:0002062,"""Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts."" [HPO:curators]"
HP:0002063,"""Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity."" [HPO:probinson]"
HP:0002064,"""Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg."" [PMID:25649546]"
HP:0002066,"""A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall."" [HPO:probinson, UKT:rschuele]"
HP:0002067,"""Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)."" [HPO:probinson]"
HP:0002068,Neuromuscular dysphagia
HP:0002069,"""A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase."" [HPO:pnrobinson, PMID:28276060]"
HP:0002070,"""A kind of ataxia that affects movements of the extremities."" [HPO:probinson]"
HP:0002071,"""A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)."" [HPO:probinson]"
HP:0002072,"""Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities."" [HPO:probinson, PMID:20589866]"
HP:0002073,Progressive cerebellar ataxia
HP:0002074,"""Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient."" [HPO:probinson, PMID:11406682]"
HP:0002075,"""A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible."" [HPO:probinson, HPO:zaferyueksel, UKB:tklockgether]"
HP:0002076,"""Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms."" [HPO:probinson, PMID:15304572]"
HP:0002077,"""A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession."" [HPO:probinson, PMID:15304572]"
HP:0002078,"""Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting."" [HPO:probinson, UKT:rschuele]"
HP:0002079,"""Underdevelopment of the corpus callosum."" [HPO:probinson, PMID:21263138]"
HP:0002080,"""A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)."" [HPO:probinson, PMID:16344298]"
HP:0002083,"""Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia."" [HPO:probinson, PMID:15304572]"
HP:0002084,"""A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull."" [HPO:probinson]"
HP:0002085,"""A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp."" [DDD:awilkie, HPO:probinson]"
HP:0002086,"""An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles."" [HPO:probinson]"
HP:0002087,"""An abnormality of the upper respiratory tract."" [HPO:probinson]"
HP:0002088,"""Any structural anomaly of the lung."" [HPO:probinson]"
HP:0002089,Pulmonary hypoplasia
HP:0002090,"""Inflammation of any part of the lung parenchyma."" [HPO:probinson]"
HP:0002091,"""A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus."" [NIHR:ldaugherty, PMID:28194273]"
HP:0002092,"""Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position."" [HPO:probinson]"
HP:0002093,Respiratory insufficiency
HP:0002094,"""Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale."" [HPO:probinson, PMID:16914301]"
HP:0002097,Emphysema
HP:0002098,"""Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea."" []"
HP:0002099,"""Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing."" [HPO:probinson]"
HP:0002100,"""Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia."" [HPO:probinson]"
HP:0002101,"""A developmental defect in the formation of pulmonary lobes."" [HPO:probinson]"
HP:0002102,"""Inflammation of the pleura."" [HPO:sdoelken]"
HP:0002103,"""An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls."" [HPO:probinson]"
HP:0002104,"""Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event."" [HPO:curators]"
HP:0002105,"""Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs."" [HPO:probinson]"
HP:0002107,"""Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung."" [HPO:probinson]"
HP:0002108,"""Pneumothorax occurring without traumatic injury to the chest or lung."" [HPO:probinson]"
HP:0002110,"""Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways."" [HPO:probinson]"
HP:0002113,Pulmonary infiltrates
HP:0002118,"""Any structural abnormality of the cerebral ventricles."" [HPO:probinson]"
HP:0002119,"""An increase in size of the ventricular system of the brain."" [HPO:probinson]"
HP:0002120,"""Atrophy of the cortex of the cerebrum."" [HPO:probinson]"
HP:0002121,"""A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features."" [HPO:probinson, PMID:28276060, PMID:28276062, PMID:28276064]"
HP:0002123,"""A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus."" [HPO:jalbers, PMID:28276060, PMID:28276064]"
HP:0002126,"""Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds)."" [COST:neuromig, HPO:probinson, PMID:24888723]"
HP:0002127,"""Any structural anomaly that affects the upper motor neuron."" []"
HP:0002131,"""Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days."" [HPO:probinson]"
HP:0002132,"""A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system."" [HPO:probinson, PMID:9279052]"
HP:0002133,"""Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures."" [HPO:jalbers, ORCID:0000-0002-1735-8178, PMID:26336950, PMID:28276060]"
HP:0002134,"""Abnormality of the basal ganglia."" [HPO:probinson]"
HP:0002135,"""The presence of calcium deposition affecting one or more structures of the basal ganglia."" [HPO:probinson]"
HP:0002136,"""An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia."" [HPO:curators]"
HP:0002138,"""Hemorrhage occurring between the arachnoid mater and the pia mater."" [HPO:sdoelken]"
HP:0002139,Arrhinencephaly
HP:0002140,"""Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured."" [PMID:32054610]"
HP:0002141,Gait imbalance
HP:0002143,"""An abnormality of the spinal cord (myelon)."" [HPO:probinson]"
HP:0002144,"""During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord."" [HPO:curators]"
HP:0002145,"""A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders."" [HPO:probinson, PMID:24966676]"
HP:0002148,"""An abnormally decreased phosphate concentration in the blood."" [HPO:gcarletti]"
HP:0002149,"""An abnormally high level of uric acid in the blood."" [HPO:probinson]"
HP:0002150,Hypercalciuria
HP:0002151,"""Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35)."" [HPO:probinson, PMID:24079682]"
HP:0002152,"""An increased concentration of proteins in the blood."" [HPO:gcarletti]"
HP:0002153,"""An abnormally increased potassium concentration in the blood."" [HPO:probinson]"
HP:0002154,"""An elevated concentration of glycine in the blood."" [HPO:gcarletti, PMID:16902722, PMID:4696900]"
HP:0002155,"""An abnormal increase in the level of triglycerides in the blood."" [HPO:probinson]"
HP:0002156,"""An increased concentration of homocystine in the urine."" [HPO:gcarletti]"
HP:0002157,"""An increased concentration of nitrogen compounds in the blood."" [HPO:gcarletti]"
HP:0002159,"""An increased concentration of heparan sulfates in the urine."" [HPO:probinson]"
HP:0002160,"""An increased concentration of homocystine in the blood."" [HPO:gcarletti]"
HP:0002161,"""An increased concentration of lysine in the blood."" [HPO:gcarletti, PMID:4696900]"
HP:0002162,"""Hair on the neck extends more inferiorly than usual."" [PMID:19125436]"
HP:0002164,"""The presence of developmental dysplasia of the nail."" [HPO:probinson]"
HP:0002165,"""Inward advance of skin over the nail plate."" [HPO:probinson]"
HP:0002166,"""A decrease in the ability to perceive vibration in the legs."" [HPO:curators]"
HP:0002167,Neurological speech impairment
HP:0002168,"""An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly."" [PMID:16247074]"
HP:0002169,"""A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch."" [HPO:probinson]"
HP:0002170,"""Hemorrhage occurring within the skull."" [HPO:gcarletti]"
HP:0002171,"""Gliosis is the focal proliferation of glial cells in the central nervous system."" [HPO:sdoelken]"
HP:0002172,"""A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps."" [PMID:25613349]"
HP:0002173,Hypoglycemic seizures
HP:0002174,"""A type of tremors that is triggered by holding a limb in a fixed position."" [HPO:probinson]"
HP:0002176,"""External mechanical compression of the spinal cord."" [HPO:probinson]"
HP:0002179,Opisthotonus
HP:0002180,"""Progressive loss of neural cells and tissue."" [HPO:probinson]"
HP:0002181,"""Abnormal accumulation of fluid in the brain."" [HPO:probinson]"
HP:0002183,"""An abnormally heightened sensitivity to loud sounds."" [HPO:probinson]"
HP:0002185,"""Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form."" [HPO:sdoelken]"
HP:0002186,"""A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements."" [HPO:probinson, PMID:34033988]"
HP:0002187,"""Profound mental retardation is defined as an intelligence quotient (IQ) below 20."" [HPO:probinson]"
HP:0002188,"""Delayed myelination in the central nervous system."" [HPO:probinson]"
HP:0002190,"""A cyst occurring within the choroid plexus within a cerebral ventricle."" [HPO:probinson]"
HP:0002191,"""Spasticity that increases in degree with time."" [HPO:probinson]"
HP:0002193,"""Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc."" [HPO:sdoelken]"
HP:0002194,"""A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling."" [HPO:probinson]"
HP:0002195,"""Defective development of the vermis of cerebellum."" [HPO:probinson]"
HP:0002196,Myelopathy
HP:0002197,"""A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex."" [HPO:probinson, PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064, PMID:6790275]"
HP:0002198,"""An abnormal dilatation of the fourth cerebral ventricle."" [HPO:probinson]"
HP:0002199,Hypocalcemic seizures
HP:0002200,"""Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc."" [HPO:sdoelken]"
HP:0002202,"""The presence of an excessive amount of fluid in the pleural cavity."" [HPO:probinson]"
HP:0002203,"""Inability to move the muscles of respiration."" [HPO:probinson]"
HP:0002204,"""An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery."" []"
HP:0002205,"""An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections."" [HPO:probinson]"
HP:0002206,"""Replacement of normal lung tissues by fibroblasts and collagen."" [DDD:tkuijpers, HPO:probinson]"
HP:0002207,Diffuse reticular or finely nodular infiltrations
HP:0002208,"""Hair shafts are rough in texture."" [HPO:probinson]"
HP:0002209,"""Decreased number of hairs per unit area of skin of the scalp."" [PMID:19125436, PMID:28061825]"
HP:0002211,"""A triangular depigmented region of white hairs located in the anterior midline of the scalp."" [DDD:probinson]"
HP:0002212,Curly hair
HP:0002213,"""Hair that is fine or thin to the touch."" [HPO:probinson]"
HP:0002215,"""Reduced number or density of axillary hair."" [HPO:probinson]"
HP:0002216,"""Development of gray hair at a younger than normal age."" [HPO:probinson]"
HP:0002217,"""Hair whose growth is slower than normal."" [HPO:probinson]"
HP:0002218,"""Hypopigmented hair that appears silver-gray."" [HPO:probinson]"
HP:0002219,"""Excessive, increased hair growth located in the facial region."" []"
HP:0002220,Melanin pigment aggregation in hair shafts
HP:0002221,"""Absence of axillary hair."" [HPO:probinson]"
HP:0002223,"""Absence of the eyebrow."" [HPO:probinson]"
HP:0002224,"""The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter."" [PMID:20464096]"
HP:0002225,"""Reduced number or density of pubic hair."" [HPO:probinson]"
HP:0002226,"""White color (lack of pigmentation) of the eyebrow."" [HPO:probinson]"
HP:0002227,"""White color (lack of pigmentation) of the eyelashes."" [DDD:cmoss]"
HP:0002230,"""Abnormally increased hair growth over much of the entire body."" [HPO:curators]"
HP:0002231,"""Sparseness of the body hair."" [HPO:probinson]"
HP:0002232,"""Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches."" []"
HP:0002234,"""Loss of scalp hair at an earlier than normal age."" [HPO:probinson]"
HP:0002235,"""Uncombable hair."" [HPO:probinson]"
HP:0002236,"""Upward and/or sideward growth of anterior hair."" [PMID:19125436]"
HP:0002239,"""Hemorrhage affecting the gastrointestinal tract."" [HPO:probinson]"
HP:0002240,"""Abnormally increased size of the liver."" [HPO:probinson]"
HP:0002242,"""An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine."" [HPO:probinson]"
HP:0002243,"""Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract."" [HPO:probinson]"
HP:0002244,"""An abnormality of the small intestine."" [HPO:probinson]"
HP:0002245,"""Meckel's diverticulum is a congenital diverticulum located in the distal ileum."" [HPO:probinson]"
HP:0002246,"""An abnormality of the duodenum, i.e., the first section of the small intestine."" [HPO:probinson]"
HP:0002247,"""A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum."" [HPO:probinson]"
HP:0002248,"""The vomiting of blood."" [HPO:probinson]"
HP:0002249,"""The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding."" [HPO:probinson]"
HP:0002250,"""Any abnormality of the large intestine."" [HPO:probinson]"
HP:0002251,"""An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon."" [HPO:probinson, PMID:17965226]"
HP:0002253,"""The presence of multiple diverticula of the colon."" [HPO:probinson]"
HP:0002254,"""Repeated episodes of diarrhea separated by periods without diarrhea."" []"
HP:0002256,Small bowel diverticula
HP:0002257,"""Chronic inflammation of the nasal mucosa."" [HPO:probinson]"
HP:0002263,"""More pronounced paramedian peaks and median notch of the Cupid's bow."" [PMID:19125428]"
HP:0002265,Large fleshy ears
HP:0002266,"""A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive."" [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0002267,"""An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face."" [HPO:curators]"
HP:0002268,"""A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes."" [HPO:probinson]"
HP:0002269,"""An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain."" [HPO:probinson]"
HP:0002270,"""An abnormality of the autonomic nervous system."" [HPO:probinson]"
HP:0002273,"""Weakness of all four limbs."" [HPO:probinson]"
HP:0002275,Poor motor coordination
HP:0002277,"""An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection."" [HPO:probinson]"
HP:0002280,"""Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata."" [HPO:probinson]"
HP:0002282,"""Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter."" [COST:neuromig, ORCID:0000-0001-5208-3432, PMID:22427329, PMID:25180909, PMID:7524438]"
HP:0002283,"""Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size."" [HPO:sdoelken]"
HP:0002286,"""A lesser degree of hair pigmentation than would otherwise be expected."" [DDD:cmoss]"
HP:0002287,"""Progressive loss of hair."" [HPO:probinson]"
HP:0002289,"""Loss of all hair on the entire body."" [HPO:probinson]"
HP:0002290,"""Circumscribed depigmentation of the hair of the head or the eyelashes."" [HPO:probinson]"
HP:0002292,"""Absence of hair in the anterior midline and/or parietal areas."" [PMID:19125436]"
HP:0002293,Alopecia of scalp
HP:0002296,"""Progressively reduced or lacking hair growth."" [HPO:curators]"
HP:0002297,Red hair
HP:0002298,Absent hair
HP:0002299,"""Fragile, easily breakable hair, i.e., with reduced tensile strength."" [DDD:cmoss]"
HP:0002300,Mutism
HP:0002301,"""Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body."" [HPO:curators]"
HP:0002304,"""Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily."" [HPO:probinson]"
HP:0002305,"""A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest."" [HPO:probinson, PMID:20589866]"
HP:0002307,"""Habitual flow of saliva out of the mouth."" [HPO:probinson, PMID:15202698]"
HP:0002308,"""Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow."" [HPO:curators, PMID:28613730]"
HP:0002310,Orofacial dyskinesia
HP:0002311,Incoordination
HP:0002312,"""Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects."" [HPO:probinson]"
HP:0002313,Spastic paraparesis
HP:0002314,"""Deterioration of the tissues of the lateral corticospinal tracts."" [HPO:probinson]"
HP:0002315,"""Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve."" [HPO:probinson, PMID:15304572]"
HP:0002317,Unsteady gait
HP:0002318,Cervical myelopathy
HP:0002321,"""An abnormal sensation of spinning while the body is actually stationary."" [HPO:probinson]"
HP:0002322,"""A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse."" [HPO:probinson, PMID:22675666]"
HP:0002323,"""Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development."" [PMID:31424828, PMID:32706613]"
HP:0002324,"""A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue."" [HPO:probinson]"
HP:0002326,Transient ischemic attack
HP:0002329,"""Excessive daytime sleepiness."" [HPO:probinson]"
HP:0002330,"""Attacks of disabling daytime drowsiness and low alertness."" [HPO:probinson]"
HP:0002331,"""Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality."" [HPO:probinson]"
HP:0002332,Lack of peer relationships
HP:0002333,"""Loss of previously present motor (i.e., movement) abilities."" [HPO:probinson]"
HP:0002334,"""An anomaly of the vermis of cerebellum."" [HPO:probinson]"
HP:0002335,"""Congenital absence of the vermis of cerebellum."" [HPO:probinson]"
HP:0002339,"""Any structural abnormality of the caudate nucleus."" [HPO:probinson]"
HP:0002340,Caudate atrophy
HP:0002341,"""Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness."" [HPO:probinson]"
HP:0002342,"""Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49."" [HPO:curators]"
HP:0002343,"""A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture."" [eMedicine:1135286, HPO:probinson]"
HP:0002344,Progressive neurologic deterioration
HP:0002345,"""A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement."" [HPO:curators]"
HP:0002346,"""An unintentional, oscillating to-and-fro muscle movement affecting head movement."" [HPO:probinson]"
HP:0002349,"""A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile."" [HPO:probinson, ORCID:0000-0002-1735-8178, PMID:28276060, PMID:28276062, PMID:28276064]"
HP:0002350,Cerebellar cyst
HP:0002352,"""This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells."" [HPO:probinson]"
HP:0002353,"""Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp."" [HPO:curators]"
HP:0002354,"""An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness."" [HPO:probinson]"
HP:0002355,"""Reduced ability to walk (ambulate)."" [HPO:probinson]"
HP:0002356,"""A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument."" [HPO:probinson]"
HP:0002359,Frequent falls
HP:0002360,"""An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness."" [HPO:curators]"
HP:0002361,"""Loss of previously present mental and motor abilities."" [HPO:probinson]"
HP:0002362,"""A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground."" []"
HP:0002363,"""An anomaly of the brainstem."" [HPO:probinson]"
HP:0002365,"""Underdevelopment of the brainstem."" [HPO:probinson]"
HP:0002366,"""Any structural anomaly of the lower motor neuron."" [HPO:probinson]"
HP:0002367,"""Visual perceptions that are not elicited by a corresponding stimulus from the outside world."" []"
HP:0002370,Poor coordination
HP:0002371,Loss of speech
HP:0002372,"""Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis."" []"
HP:0002373,"""A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years."" [HPO:probinson, PMID:10353950, PMID:19125841, PMID:30078767, PMID:6779259]"
HP:0002374,Diminished movement
HP:0002375,"""Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency."" [HPO:probinson]"
HP:0002376,"""Loss of developmental skills, as manifested by loss of developmental milestones."" [DDD:hvfirth]"
HP:0002378,"""An unintentional, oscillating to-and-fro muscle movement affecting the hand."" []"
HP:0002380,"""Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units."" [HPO:curators]"
HP:0002381,"""An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write."" [PMID:27384070]"
HP:0002383,"""A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity."" [PMID:24365426]"
HP:0002384,"""Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure."" [HPO:pnrobinson, PMID:28276062, PMID:28276064, PMID:9738682]"
HP:0002385,"""Weakness or partial paralysis in the lower limbs."" [HPO:probinson]"
HP:0002389,"""If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space."" [HPO:curators]"
HP:0002390,Spinal arteriovenous malformation
HP:0002392,"""The presence of complexes of repetitive spikes and waves in EEG."" [HPO:jalbers]"
HP:0002395,Lower limb hyperreflexia
HP:0002396,"""A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched)."" [HPO:probinson]"
HP:0002398,Degeneration of anterior horn cells
HP:0002401,"""No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours."" [PMID:22715346, PMID:23907585]"
HP:0002403,"""The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception."" [HPO:probinson]"
HP:0002404,"""Increased width of the superior cerebellar peduncle."" [HPO:probinson]"
HP:0002406,"""A type of dysmetria involving the limbs."" [HPO:probinson]"
HP:0002408,"""An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain."" []"
HP:0002410,"""Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum."" [HPO:curators]"
HP:0002411,"""Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle."" [PMID:21501741]"
HP:0002414,"""Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele."" [HPO:probinson]"
HP:0002415,"""Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies."" [HPO:probinson, PMID:30620693]"
HP:0002416,"""Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life."" [HPO:probinson, PMID:12423490]"
HP:0002418,"""An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct."" [HPO:probinson]"
HP:0002419,"""An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth."" [HPO:probinson, PMID:14657304]"
HP:0002421,"""Difficulty to maintain correct position of the head while standing or sitting."" [HPO:probinson]"
HP:0002423,"""Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions."" []"
HP:0002425,"""A defect in the motor ability that enables speech."" [HPO:curators]"
HP:0002427,"""Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it."" [HPO:probinson]"
HP:0002435,"""Protrusion of the meninges through a defect of the skull or vertebral column."" [HPO:sdoelken, PMID:32965845]"
HP:0002436,"""A herniation of meninges through a congenital bone defect in the skull in the occipital region."" [HPO:probinson]"
HP:0002438,Cerebellar malformation
HP:0002439,Frontolimbic dementia
HP:0002442,"""A specific learning disability involving mathematics and arithmetic."" [DDD:probinson]"
HP:0002444,"""The presence of a hamartoma of the hypothalamus."" [HPO:curators]"
HP:0002445,"""Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord."" [HPO:probinson]"
HP:0002446,"""Proliferation of astrocytes in the area of a lesion of the central nervous system."" [HPO:probinson]"
HP:0002448,Progressive encephalopathy
HP:0002450,"""Any structural anomaly that affects the motor neuron."" []"
HP:0002451,"""A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs."" [HPO:probinson]"
HP:0002453,"""An abnormality of the globus pallidus."" [HPO:probinson]"
HP:0002454,"""The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus."" [HPO:probinson, PMID:11110959, PMID:19881070, PMID:29371252]"
HP:0002457,Abnormal head movements
HP:0002460,"""Reduced strength of the musculature of the distal extremities."" [HPO:probinson]"
HP:0002461,Dense calcifications in the cerebellar dentate nucleus
HP:0002463,"""Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations."" [ISBN:9780890425558]"
HP:0002464,"""A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality."" [HPO:probinson]"
HP:0002465,Poor speech
HP:0002470,Nonprogressive cerebellar ataxia
HP:0002472,"""Reduced size of the cerebral cortex."" [HPO:probinson]"
HP:0002474,"""A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts."" [HPO:probinson]"
HP:0002475,"""Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column."" [HPO:probinson]"
HP:0002476,"""The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant."" [PMID:12700289]"
HP:0002478,Progressive spastic quadriplegia
HP:0002480,"""Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes."" [HPO:probinson]"
HP:0002483,Bulbar signs
HP:0002486,"""An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation."" [HPO:probinson]"
HP:0002487,"""Motor hyperactivity with excessive movement of muscles of the body as a whole."" [HPO:probinson]"
HP:0002488,"""A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)."" [NCIT:C9300]"
HP:0002490,"""Increased concentration of lactate in the cerebrospinal fluid."" [HPO:curators]"
HP:0002491,"""Spasticity of one or more muscles innervated by the facial nerve."" []"
HP:0002492,"""Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord."" [HPO:probinson]"
HP:0002493,"""A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs."" [HPO:probinson]"
HP:0002494,"""Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements."" [HPO:curators]"
HP:0002495,"""A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient."" [HPO:probinson]"
HP:0002497,Spastic ataxia
HP:0002500,"""An abnormality of the cerebral white matter."" [HPO:probinson]"
HP:0002501,Spasticity of pharyngeal muscles
HP:0002503,Spinocerebellar tract degeneration
HP:0002504,"""Deposition of calcium salts within small blood vessels of the brain."" [HPO:probinson]"
HP:0002505,"""Inability to walk in a person who previous had the ability to walk."" []"
HP:0002506,"""Diffuse unlocalised atrophy affecting the cerebrum."" [HPO:sdoelken]"
HP:0002507,"""A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly."" [gc:hpe]"
HP:0002508,"""A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord."" [HPO:probinson]"
HP:0002509,Limb hypertonia
HP:0002510,"""Spastic paralysis affecting all four limbs."" [HPO:probinson]"
HP:0002511,"""A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads."" [HPO:probinson]"
HP:0002512,Brain stem compression
HP:0002514,"""The presence of calcium deposition within brain structures."" [HPO:probinson]"
HP:0002515,"""Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck."" [PMID:27770207]"
HP:0002516,"""An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid."" [HPO:probinson]"
HP:0002518,"""A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles."" []"
HP:0002519,"""Fleeting perceptual experiences that occur during the transition from wakefulness to sleep."" [PMID:27358492]"
HP:0002521,"""Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG)."" [HPO:curators]"
HP:0002522,"""Inability to elicit tendon reflexes in the lower limbs."" [HPO:probinson]"
HP:0002524,"""A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions."" [HPO:probinson, PMID:21931493, PMID:22249574]"
HP:0002526,"""Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory."" [HPO:probinson]"
HP:0002527,Falls
HP:0002528,"""Electron-dense granules within double membrane-bound cytoplasmic vacuoles."" [PMID:22073234]"
HP:0002529,Neuronal loss in central nervous system
HP:0002530,"""A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles."" [HPO:probinson]"
HP:0002533,"""Involuntary flexion or extension of the arms and legs."" [HPO:probinson]"
HP:0002536,"""An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain."" [HPO:curators]"
HP:0002538,"""Any structural abnormality of the cerebral cortex."" [HPO:probinson, PMID:31373394]"
HP:0002539,"""The presence of developmental dysplasia of the cerebral cortex."" [HPO:probinson]"
HP:0002540,"""Incapability to ambulate."" [HPO:probinson]"
HP:0002542,"""Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus."" [HPO:probinson]"
HP:0002544,"""A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture."" [HPO:probinson, PMID:17917462]"
HP:0002545,"""Patchy loss of myelin from nerve fibers in the central nervous system."" [HPO:probinson]"
HP:0002546,Incomprehensible speech
HP:0002548,"""Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication."" []"
HP:0002549,"""Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory"" [PMID:19646677]"
HP:0002550,"""Absence of facial hair."" [HPO:probinson]"
HP:0002552,"""Developmental dysplasia of the hair."" [HPO:probinson]"
HP:0002553,"""Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape."" [PMID:19125427]"
HP:0002555,"""Absence of pubic hair."" [HPO:probinson]"
HP:0002557,"""Underdevelopment of the nipple."" [HPO:probinson]"
HP:0002558,"""Presence of more than two nipples."" [HPO:probinson]"
HP:0002561,"""Congenital failure to develop, and absence of, the nipple."" []"
HP:0002562,"""Placement of the nipples at a lower than normal location."" [HPO:probinson]"
HP:0002563,"""Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium."" [HPO:probinson]"
HP:0002566,"""An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis."" [HPO:probinson, PMID:12438031]"
HP:0002570,"""Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats."" [HPO:probinson]"
HP:0002571,"""A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus."" [HPO:probinson]"
HP:0002572,"""Paroxysmal, recurrent episodes of vomiting."" [HPO:curators]"
HP:0002573,"""The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus."" [DDD:hfirth]"
HP:0002574,"""An intermittent form of abdominal pain."" [HPO:probinson]"
HP:0002575,"""An abnormal connection (fistula) between the esophagus and the trachea."" [HPO:probinson]"
HP:0002576,"""An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine."" [HPO:probinson]"
HP:0002577,"""An abnormality of the stomach."" [HPO:probinson]"
HP:0002578,"""Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction."" [HPO:probinson]"
HP:0002579,"""Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes."" [HPO:probinson]"
HP:0002580,"""Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue."" [HPO:probinson]"
HP:0002582,"""Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue."" [HPO:probinson, PMID:21483628]"
HP:0002583,"""Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases."" [HPO:sdoelken]"
HP:0002584,"""Bleeding from the intestines."" [DDD:akelly]"
HP:0002585,"""An abnormality of the peritoneum."" [HPO:probinson]"
HP:0002586,"""Inflammation of the peritoneum."" [HPO:probinson]"
HP:0002587,"""Vomiting that ejects the gastric contents with great force."" [HPO:probinson]"
HP:0002588,"""An erosion of the mucous membrane in a portion of the duodenum."" [HPO:probinson]"
HP:0002589,Gastrointestinal atresia
HP:0002590,Paralytic ileus
HP:0002591,"""A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat."" [HPO:probinson]"
HP:0002592,"""An ulcer, that is, an erosion of an area of the gastric mucous membrane."" [HPO:probinson]"
HP:0002593,"""Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines."" [HPO:probinson]"
HP:0002594,"""Hypoplasia of the pancreas."" [HPO:probinson]"
HP:0002595,"""Acute obstruction of the intestines preventing passage of the contents of the intestines."" [HPO:sdoelken]"
HP:0002597,"""An abnormality of the vasculature."" [HPO:probinson]"
HP:0002599,"""A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction."" [HPO:probinson]"
HP:0002600,"""Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping."" [HPO:probinson]"
HP:0002601,Paresis of extensor muscles of the big toe
HP:0002604,"""Telangiectasia affecting the gastrointestinal tract."" [HPO:probinson]"
HP:0002605,"""The presence of cell death (necrosis) affecting the liver."" [HPO:probinson]"
HP:0002607,"""Involuntary fecal soiling in adults and children who have usually already been toilet trained."" [HPO:sdoelken]"
HP:0002608,"""Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases."" [HPO:probinson, PMID:23681421]"
HP:0002611,Cholestatic liver disease
HP:0002612,"""The presence of fibrosis of that part of the liver with congenital onset."" [HPO:probinson]"
HP:0002613,"""Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease."" [HPO:probinson]"
HP:0002614,"""A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein."" [HPO:probinson]"
HP:0002615,"""Low Blood Pressure, vascular hypotension."" [HPO:probinson]"
HP:0002616,"""An abnormal localized widening (dilatation) of the aortic root."" []"
HP:0002617,"""Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart."" [HPO:probinson, PMID:30225143]"
HP:0002619,"""Enlarged and tortuous veins."" [HPO:probinson]"
HP:0002621,"""A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow."" [HPO:probinson]"
HP:0002623,"""An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle."" [HPO:curators]"
HP:0002624,"""An anomaly of vein."" [HPO:probinson]"
HP:0002625,"""Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected."" [HPO:probinson]"
HP:0002626,"""Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein."" [HPO:probinson]"
HP:0002627,"""The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery."" [DDD:dbrown, HPO:sdoelken]"
HP:0002629,"""An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract."" []"
HP:0002630,"""Abnormality of the absorption of fat from the gastrointestinal tract."" [HPO:probinson]"
HP:0002632,Low-to-normal blood pressure
HP:0002633,"""Inflammation of blood vessel."" [HPO:probinson]"
HP:0002634,"""Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity."" [HPO:probinson]"
HP:0002635,"""In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion."" [PMID:7648691]"
HP:0002636,"""Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta."" [HPO:probinson]"
HP:0002637,"""Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue."" []"
HP:0002638,"""Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein)."" [HPO:probinson]"
HP:0002639,"""Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience."" [HPO:probinson, PMID:16265183]"
HP:0002640,"""A type of hypertension associated with pheochromocytoma."" [HPO:probinson]"
HP:0002641,Peripheral thrombosis
HP:0002642,Arteriovenous fistulas of celiac and mesenteric vessels
HP:0002643,"""Respiratory difficulty as newborn."" [HPO:probinson]"
HP:0002644,"""An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs."" [HPO:probinson]"
HP:0002645,"""The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium."" [HPO:probinson]"
HP:0002647,"""Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta."" [HPO:probinson]"
HP:0002650,"""The presence of an abnormal lateral curvature of the spine."" [HPO:probinson]"
HP:0002651,Spondyloepimetaphyseal dysplasia
HP:0002652,"""A general term describing features characterized by abnormal development of bones and connective tissues."" [HPO:probinson]"
HP:0002653,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone."" []"
HP:0002654,Multiple epiphyseal dysplasia
HP:0002655,"""A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses)."" [HPO:probinson]"
HP:0002656,Epiphyseal dysplasia
HP:0002657,Spondylometaphyseal dysplasia
HP:0002659,"""An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture."" [HPO:sdoelken]"
HP:0002661,"""An increased tendency to fractures following trauma, with fractures occurring without pain."" [HPO:curators]"
HP:0002663,Delayed epiphyseal ossification
HP:0002664,"""An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour)."" [HPO:probinson]"
HP:0002665,"""A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells."" [HPO:probinson]"
HP:0002666,"""Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines."" [HPO:probinson]"
HP:0002667,"""The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children."" [HPO:probinson]"
HP:0002668,"""A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation."" [HPO:probinson]"
HP:0002669,"""A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor."" [HPO:probinson]"
HP:0002671,"""The presence of a basal cell carcinoma of the skin."" [HPO:sdoelken]"
HP:0002672,Gastrointestinal carcinoma
HP:0002673,"""Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)."" [HPO:probinson, ORCID:000-0002-6670-9157]"
HP:0002676,"""Trilobar skull configuration when viewed from the front or behind."" [PMID:19125436, PMID:29089832]"
HP:0002677,"""An abnormal narrowing of the foramen magnum."" [HPO:probinson]"
HP:0002678,Skull asymmetry
HP:0002679,"""Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull."" [HPO:probinson]"
HP:0002680,"""A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull."" [HPO:pnrobinson]"
HP:0002681,Deformed sella turcica
HP:0002682,"""Increased width of the skull."" [HPO:probinson]"
HP:0002683,"""Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain."" [HPO:probinson]"
HP:0002684,"""The presence of an abnormally thick calvaria."" [HPO:curators]"
HP:0002686,Prenatal maternal abnormality
HP:0002687,"""An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone."" [ORCID:0000-0001-5889-4463]"
HP:0002688,"""Aplasia of frontal sinus."" [HPO:probinson]"
HP:0002689,"""Aplasia of the paranasal sinuses."" [HPO:probinson]"
HP:0002690,"""An abnormal enlargement of the sella turcica."" [HPO:probinson]"
HP:0002691,"""A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base."" [HPO:probinson]"
HP:0002692,Hypoplastic facial bones
HP:0002693,"""An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components."" [HPO:curators]"
HP:0002694,"""Increased bone density of the skull base without significant changes in bony contour."" [HPO:probinson]"
HP:0002696,"""Any abnormality of the parietal bone of the skull."" [HPO:curators]"
HP:0002697,"""The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide."" [HPO:probinson]"
HP:0002699,"""Any abnormality of the foramen magnum."" [HPO:probinson]"
HP:0002700,"""An abnormal increase in the size of the foramen magnum."" [HPO:curators]"
HP:0002703,"""An abnormality of the process of ossification of the skull."" [HPO:probinson]"
HP:0002705,"""The presence of a high and narrow palate."" [HPO:curators]"
HP:0002707,"""The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate."" [HPO:curators]"
HP:0002708,"""Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate."" [HPO:curators]"
HP:0002710,"""A depression located at an oral commissure."" [HPO:sdoelken, PMID:19125428]"
HP:0002711,"""Increased depth of the median tongue furrow."" [HPO:probinson]"
HP:0002714,"""A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure."" [HPO:probinson, PMID:19125428]"
HP:0002715,"""An abnormality of the immune system."" [HPO:probinson]"
HP:0002716,"""Enlargment (swelling) of a lymph node."" [HPO:probinson]"
HP:0002717,Adrenal overactivity
HP:0002718,"""Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection."" [HPO:probinson]"
HP:0002719,"""Increased susceptibility to infections."" [HPO:probinson, HPO:skoehler]"
HP:0002720,"""Decreased levels of immunoglobulin A (IgA)."" [HPO:probinson]"
HP:0002721,"""Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance."" [PMID:20042227]"
HP:0002722,"""An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses."" [HPO:probinson]"
HP:0002723,"""An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity."" [GO:0045728]"
HP:0002724,"""An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections."" [HPO:probinson]"
HP:0002725,"""A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes."" [HPO:probinson]"
HP:0002726,"""Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection."" [HPO:probinson]"
HP:0002728,"""Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails."" [HPO:probinson, PMID:20859203]"
HP:0002729,"""Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers."" [HPO:probinson, PMID:23281438]"
HP:0002730,"""A chronic form of lymphadenopathy that is not related to infection."" [HPO:probinson]"
HP:0002731,"""A reduction in the rate of apoptosis in lymphocytes."" [HPO:probinson]"
HP:0002732,"""Underdevelopment of the lymph nodes."" [HPO:probinson]"
HP:0002733,"""A lymph node abnormality."" [HPO:probinson]"
HP:0002737,Thick skull base
HP:0002738,"""Underdevelopment of frontal sinus."" [HPO:probinson]"
HP:0002740,"""Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent."" [HPO:probinson]"
HP:0002741,"""Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection."" [HPO:probinson]"
HP:0002742,"""Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection."" [HPO:probinson]"
HP:0002743,"""Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection."" [HPO:probinson]"
HP:0002744,"""Cleft lip and cleft palate affecting both sides of the face."" [HPO:probinson]"
HP:0002745,"""A thickened white patch on the oral mucosa that cannot be rubbed off."" [HPO:probinson, PMID:17944749]"
HP:0002747,Respiratory insufficiency due to muscle weakness
HP:0002748,"""Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets."" [GARD:0005700]"
HP:0002749,"""Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets."" [HPO:curators]"
HP:0002750,"""A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body."" [HPO:curators]"
HP:0002751,"""An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane."" [HPO:probinson]"
HP:0002752,Sparse bone trabeculae
HP:0002753,"""Abnormal thinning of the cortical region of bones."" [HPO:curators]"
HP:0002754,"""Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism."" [HPO:probinson, PMID:15276398]"
HP:0002756,"""A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone."" [HPO:curators]"
HP:0002757,"""The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture)."" [HPO:curators]"
HP:0002758,"""Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity."" []"
HP:0002761,"""Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body."" [HPO:curators]"
HP:0002762,"""Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage."" [HPO:probinson]"
HP:0002763,"""Any morphological abnormality of cartilage."" [HPO:probinson]"
HP:0002764,"""Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints)."" [HPO:probinson, PMID:29246349]"
HP:0002766,Relatively short spine
HP:0002777,Tracheal stenosis
HP:0002778,"""A structural anomaly of the trachea."" [HPO:probinson]"
HP:0002779,Tracheomalacia
HP:0002780,"""Weakness or softness of the cartilage in the walls of the bronchial tubes."" [PMID:15764786]"
HP:0002781,"""Increased resistance to the passage of air in the upper airway."" [HPO:probinson]"
HP:0002783,"""An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections."" [HPO:probinson]"
HP:0002786,"""Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways."" [HPO:probinson]"
HP:0002787,"""Calcification (abnormal deposits of calcium) in the tracheal tissues."" [HPO:probinson, PMID:18663210]"
HP:0002788,"""An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)."" [HPO:probinson]"
HP:0002789,"""Very rapid breathing."" [HPO:probinson]"
HP:0002790,Neonatal breathing dysregulation
HP:0002791,"""A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide)."" [HPO:probinson]"
HP:0002792,"""An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung."" [HPO:probinson]"
HP:0002793,"""An anomaly of the rhythm or depth of breathing."" [HPO:probinson]"
HP:0002795,Abnormal respiratory system physiology
HP:0002797,"""Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium."" [HPO:probinson]"
HP:0002803,"""One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth."" [HPO:probinson]"
HP:0002804,"""Multiple congenital contractures in different body areas."" [HPO:probinson, PMID:23050160]"
HP:0002805,Accelerated bone age after puberty
HP:0002808,"""Exaggerated anterior convexity of the thoracic vertebral column."" [HPO:probinson]"
HP:0002810,Dumbbell-shaped metaphyses
HP:0002812,"""Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees."" [HPO:probinson]"
HP:0002813,"""Any abnormality of bones of the arms or legs."" [HPO:probinson]"
HP:0002814,"""An abnormality of the leg."" [HPO:probinson]"
HP:0002815,"""An abnormality of the knee joint or surrounding structures."" [HPO:probinson]"
HP:0002816,"""An abnormally increased extension of the knee joint, so that the knee can bend backwards."" [HPO:probinson, PMID:9580896]"
HP:0002817,"""An abnormality of the arm."" [HPO:probinson]"
HP:0002818,"""An abnormality of the radius."" [HPO:probinson]"
HP:0002821,Neuropathic arthropathy
HP:0002822,Hyperplasia of the femoral trochanters
HP:0002823,"""Any anomaly of the structure of the femur."" [HPO:probinson]"
HP:0002825,"""The presence of a tail-like skin appendage located adjacent to the sacrum."" [HPO:probinson]"
HP:0002826,"""An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle)."" [HPO:probinson, PMID:19232556]"
HP:0002827,"""Displacement of the femur from its normal location in the hip joint."" [HPO:probinson]"
HP:0002828,Multiple joint contractures
HP:0002829,"""Joint pain."" [HPO:probinson]"
HP:0002831,Long coccyx
HP:0002832,"""An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs)."" [HPO:curators]"
HP:0002833,"""Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping."" [HPO:probinson, PMID:11930062]"
HP:0002834,Flared femoral metaphysis
HP:0002835,"""Inspiration of a foreign object into the airway."" [HPO:probinson]"
HP:0002836,"""Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall."" [HPO:probinson, PMID:23650202]"
HP:0002837,"""An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis."" [HPO:probinson, ISBN:0199747725, PMID:28261574]"
HP:0002839,"""Abnormal function of a sphincter of the urinary bladder."" [HPO:probinson]"
HP:0002840,"""Inflammation of a lymph node."" [HPO:probinson]"
HP:0002841,"""Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection."" [HPO:probinson]"
HP:0002842,"""Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent."" [HPO:probinson]"
HP:0002843,"""An abnormality of T cells."" [HPO:curators]"
HP:0002846,"""A structural abnormality of B cells."" [HPO:probinson, PMID:18725575]"
HP:0002847,"""Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge."" [HPO:probinson]"
HP:0002848,"""The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides."" [HPO:probinson]"
HP:0002849,"""Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses."" [HPO:probinson]"
HP:0002850,"""An abnormally decreased level of immunoglobulin M (IgM) in blood."" [HPO:probinson]"
HP:0002851,"""An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells."" []"
HP:0002853,"""An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation."" [PMID:11531958]"
HP:0002857,"""The legs angle inward, such that the knees are close together and the ankles far apart."" [HPO:probinson]"
HP:0002858,"""The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater."" [HPO:probinson]"
HP:0002859,Rhabdomyosarcoma
HP:0002860,"""The presence of squamous cell carcinoma of the skin."" [HPO:probinson]"
HP:0002861,"""The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea)."" [HPO:probinson]"
HP:0002862,"""The presence of a carcinoma of the urinary bladder."" [HPO:probinson]"
HP:0002863,"""Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia."" [HPO:probinson]"
HP:0002864,Paraganglioma of head and neck
HP:0002865,"""The presence of a medullary carcinoma of the thyroid gland."" [HPO:probinson]"
HP:0002866,"""Underdevelopment of the ilium ala."" [HPO:probinson]"
HP:0002867,"""An abnormality of the ilium, the largest and uppermost bone of the pelvis."" [HPO:probinson]"
HP:0002868,"""Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)."" [HPO:probinson]"
HP:0002869,"""Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing."" [HPO:probinson, PMID:28744080]"
HP:0002870,"""A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow."" [HPO:probinson]"
HP:0002871,"""Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow."" [HPO:curators]"
HP:0002872,"""Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress."" [HPO:curators]"
HP:0002875,"""Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest."" [PMID:29763022]"
HP:0002876,"""Episodes of very rapid breathing."" [HPO:probinson]"
HP:0002877,"""An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide."" [PMID:20308760]"
HP:0002878,"""A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits."" [HPO:probinson]"
HP:0002879,"""Abnormally increased variability of the size of the vertebral bodies."" [HPO:probinson]"
HP:0002882,"""Recurrent bouts of sudden, severe apnea that may be life-threatening."" [HPO:probinson]"
HP:0002883,"""Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide."" [HPO:probinson]"
HP:0002884,"""A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts."" [eMedicine:986802, HPO:probinson]"
HP:0002885,"""A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults."" [HPO:probinson]"
HP:0002886,"""A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve."" [HPO:probinson, PMID:17268589]"
HP:0002888,"""The presence of an ependymoma of the central nervous system."" [HPO:probinson]"
HP:0002890,"""The presence of a carcinoma of the thyroid gland."" [HPO:probinson]"
HP:0002891,"""The presence of a leiomyosarcoma of the uterus."" [HPO:probinson]"
HP:0002893,"""A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary)."" [DDD:spark, PMID:32119338]"
HP:0002894,"""A tumor (abnormal growth of tissue) of the pancreas."" [HPO:probinson]"
HP:0002895,"""The presence of a papillary adenocarcinoma of the thyroid gland."" [HPO:probinson]"
HP:0002896,"""A tumor (abnormal growth of tissue) of the liver."" [HPO:probinson]"
HP:0002897,"""A benign tumor of the parathyroid gland that can cause hyperparathyroidism."" [HPO:probinson]"
HP:0002898,Embryonal neoplasm
HP:0002900,"""An abnormally decreased potassium concentration in the blood."" [HPO:probinson]"
HP:0002901,"""An abnormally decreased calcium concentration in the blood."" [HPO:curators]"
HP:0002902,"""An abnormally decreased sodium concentration in the blood."" [HPO:probinson]"
HP:0002904,"""An increased amount of bilirubin in the blood."" [HPO:probinson]"
HP:0002905,"""An abnormally increased phosphate concentration in the blood."" [HPO:gcarletti]"
HP:0002907,"""Microscopic hematuria detected by dipstick or microscopic examination of the urine."" [HPO:sdoelken]"
HP:0002908,Conjugated hyperbilirubinemia
HP:0002909,"""An increased concentration of all types of amino acid in the urine."" [HPO:probinson]"
HP:0002910,"""Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage."" [HPO:probinson]"
HP:0002912,"""Increased concentration of methylmalonic acid in the blood."" [HPO:probinson, PMID:26101005]"
HP:0002913,"""Presence of myoglobin in the urine."" [HPO:probinson]"
HP:0002914,"""An increased concentration of chloride in the urine."" [HPO:probinson]"
HP:0002916,"""An abnormality of chromosome segregation."" [HPO:probinson]"
HP:0002917,"""An abnormally decreased magnesium concentration in the blood."" [HPO:probinson]"
HP:0002918,"""An abnormally increased magnesium concentration in the blood."" [HPO:probinson]"
HP:0002919,"""High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state."" [HPO:probinson, PMID:11344564]"
HP:0002920,"""An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood."" [HPO:probinson]"
HP:0002921,"""An abnormality of the cerebrospinal fluid (CSF)."" [HPO:probinson]"
HP:0002922,"""Increased concentration of protein in the cerebrospinal fluid."" [KI:phemming, PMID:29114301]"
HP:0002923,"""The presence in the serum of an autoantibody directed against the Fc portion of IgG."" [HPO:probinson]"
HP:0002925,"""Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation."" [DDD:spark]"
HP:0002926,"""An abnormal functionality of the thyroid gland."" [HPO:probinson]"
HP:0002927,"""An increased concentration of histidine in the urine."" [HPO:probinson, PMID:18901181, PMID:20240447]"
HP:0002928,Decreased activity of the pyruvate dehydrogenase complex
HP:0002929,Leydig cell insensitivity to gonadotropin
HP:0002930,"""Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone."" [DDD:spark, PMID:24847459]"
HP:0002932,"""A reduction in aldehyde oxidase level."" [HPO:probinson]"
HP:0002933,"""Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall."" [HPO:probinson, HPO:skoehler]"
HP:0002936,"""An abnormal reduction in sensation in the distal portions of the extremities."" [HPO:probinson]"
HP:0002937,"""Absence of one half of the vertebral body."" [HPO:probinson]"
HP:0002938,"""An abnormal accentuation of the inward curvature of the spine in the lumbar region."" [HPO:probinson]"
HP:0002942,"""Over curvature of the thoracic region, leading to a round back or if sever to a hump."" [HPO:probinson]"
HP:0002943,Thoracic scoliosis
HP:0002944,Thoracolumbar scoliosis
HP:0002945,"""Decreased height of the intervertebral disk."" [HPO:probinson]"
HP:0002946,Supernumerary vertebrae
HP:0002947,"""Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance."" [HPO:probinson]"
HP:0002948,"""A developmental defect leading to the union of two adjacent vertebrae."" [HPO:probinson]"
HP:0002949,"""A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another."" []"
HP:0002951,"""Congenital absence of a part of the vermis of cerebellum."" [HPO:probinson]"
HP:0002953,Vertebral compression fracture
HP:0002955,"""A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity."" [HPO:probinson, PMID:10908370, PMID:937513]"
HP:0002958,"""Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications."" [PMID:26233425]"
HP:0002959,"""An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE."" [HPO:probinson, PMID:11544001]"
HP:0002960,"""The occurrence of an immune reaction against the organism's own cells or tissues."" [HPO:probinson]"
HP:0002961,"""Selective deficiency of one or more, but not all, classes of immunoglobulins."" [HPO:probinson]"
HP:0002963,"""Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter."" [HPO:probinson]"
HP:0002965,"""Inability to react to a delayed hypersensitivity skin test."" [HPO:probinson]"
HP:0002967,"""Abnormal positioning in which the elbows are turned out."" [HPO:probinson]"
HP:0002970,"""A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together."" [HPO:probinson]"
HP:0002971,"""Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes."" [PMID:15130947]"
HP:0002972,"""Decreased ability to react to a delayed hypersensitivity skin test."" [HPO:probinson]"
HP:0002973,"""An abnormality of the lower arm."" [HPO:probinson]"
HP:0002974,"""An abnormal osseous union (fusion) between the radius and the ulna."" [HPO:probinson]"
HP:0002977,"""Absence or underdevelopment of tissue in the central nervous system."" [HPO:probinson]"
HP:0002979,"""A bending or abnormal curvature affecting a long bone of the leg."" [HPO:probinson]"
HP:0002980,"""Bowing (abnormal curvature) of the femur."" [HPO:probinson]"
HP:0002981,"""An abnormality of the calf, i.e. of the posterior part of the lower leg."" [HPO:probinson]"
HP:0002982,"""A bending or abnormal curvature of the tibia."" [HPO:probinson]"
HP:0002983,"""The presence of abnormally small extremities."" [HPO:probinson]"
HP:0002984,"""Underdevelopment of the radius."" [HPO:probinson]"
HP:0002986,"""A bending or abnormal curvature of the radius."" [HPO:probinson]"
HP:0002987,"""An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position."" [HPO:probinson]"
HP:0002990,"""Absence of the fibula."" [HPO:probinson]"
HP:0002991,"""An anomaly of the calf bone (fibula), one of the two bones of the calf."" [HPO:probinson]"
HP:0002992,"""Abnormality of the tibia (shinbone)."" [HPO:curators]"
HP:0002996,Limited elbow movement
HP:0002999,"""The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove."" [HPO:probinson]"
HP:0003001,Glomus jugular tumor
HP:0003002,"""The presence of a carcinoma of the breast."" [HPO:probinson]"
HP:0003003,Colon cancer
HP:0003005,"""A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells."" [HPO:probinson]"
HP:0003006,"""Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum."" [HPO:probinson]"
HP:0003009,Enhanced neurotoxicity of vincristine
HP:0003010,"""Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding."" [DDD:mumford]"
HP:0003011,"""Abnormality originating in one or more muscles, i.e., of the set of muscles of body."" [HPO:probinson]"
HP:0003013,"""A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant)."" [HPO:probinson]"
HP:0003015,"""The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones."" [HPO:probinson, PMID:12853662]"
HP:0003016,"""Abnormal widening of the metaphyseal regions of long bones."" [HPO:probinson]"
HP:0003019,"""Abnormality of the wrist, the structure connecting the hand and the forearm."" [HPO:probinson]"
HP:0003020,Enlargement of the wrists
HP:0003021,"""Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance."" [HPO:probinson]"
HP:0003022,"""Underdevelopment of the ulna."" [HPO:curators]"
HP:0003023,"""Curvature of the shafts of the long bones due to multiple fractures."" [HPO:curators]"
HP:0003025,"""Irregularity of the normally smooth surface of the metaphyses."" [HPO:probinson]"
HP:0003026,"""One or more abnormally short long bone."" [HPO:probinson]"
HP:0003027,"""Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments."" [HPO:sdoelken]"
HP:0003028,Abnormality of the ankles
HP:0003029,Enlargement of the ankles
HP:0003031,"""Bending of the diaphysis (shaft) of the ulna."" [HPO:probinson]"
HP:0003034,"""An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0003037,"""Increase in size of one or more joints."" [HPO:probinson]"
HP:0003038,"""Underdevelopment of the fibula."" [HPO:probinson]"
HP:0003040,Arthropathy
HP:0003041,"""An abnormal osseous union (fusion) between the radius and the humerus."" [HPO:sdoelken]"
HP:0003042,"""Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet."" [HPO:probinson]"
HP:0003043,"""An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula."" [HPO:probinson]"
HP:0003044,"""Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement."" [HPO:probinson]"
HP:0003045,"""Abnormality of the patella (knee cap)."" [HPO:probinson]"
HP:0003048,"""Partial dislocation of the head of the radius."" [HPO:curators]"
HP:0003049,Ulnar deviation of the wrist
HP:0003051,"""Abnormal increase in size of one or more metaphyses."" [HPO:probinson]"
HP:0003053,Epiphyseal deformities of tubular bones
HP:0003057,"""Amelia of all four limbs."" [HPO:sdoelken]"
HP:0003059,Abnormality of the radioulnar joints
HP:0003063,"""An abnormality of the humerus (i.e., upper arm bone)."" [HPO:curators]"
HP:0003065,"""Underdevelopment of the patella."" [HPO:curators]"
HP:0003066,"""Reduced ability to extend (straighten) the knee joint."" []"
HP:0003067,"""An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna."" [HPO:probinson, PMID:12362035]"
HP:0003068,Madelung-like forearm deformities
HP:0003070,Elbow ankylosis
HP:0003071,"""Abnormal flatness (decreased height) of epiphyses."" [HPO:probinson]"
HP:0003072,"""An abnormally increased calcium concentration in the blood."" [HPO:curators]"
HP:0003073,"""Reduction in the concentration of albumin in the blood."" [HPO:probinson]"
HP:0003074,"""An increased concentration of glucose in the blood."" [HPO:probinson]"
HP:0003075,"""A decreased concentration of protein in the blood."" [HPO:gcarletti]"
HP:0003076,"""An increased concentration of glucose in the urine."" [HPO:gcarletti]"
HP:0003077,"""An elevated lipid concentration in the blood."" [HPO:probinson]"
HP:0003079,Defective DNA repair after ultraviolet radiation damage
HP:0003080,"""An increased concentration of 4-hydroxy-L-proline in the urine."" [HPO:gcarletti]"
HP:0003081,"""An increased concentration of potassium(1+) in the urine."" [HPO:probinson]"
HP:0003083,"""A dislocation of the head of the radius from its socket in the elbow joint."" [HPO:curators]"
HP:0003084,"""An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna)."" [HPO:curators]"
HP:0003085,"""Disproportionately long fibulae."" [HPO:probinson]"
HP:0003086,"""Small hands and feet."" [HPO:probinson, PMID:22286749]"
HP:0003088,Premature osteoarthritis
HP:0003089,Hamstring contractures
HP:0003090,"""Underdevelopment of the proximal epiphysis of the femur."" [HPO:probinson]"
HP:0003091,"""Trophic changes occurring in a limb."" [HPO:probinson]"
HP:0003093,"""Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward."" [HPO:probinson]"
HP:0003095,Septic arthritis
HP:0003097,"""An abnormal shortening of the femur."" [HPO:probinson]"
HP:0003099,"""Relatively increased growth of the fibula compared to that of the tibia."" [HPO:probinson, PMID:17259417]"
HP:0003100,"""Reduced diameter of a long bone."" [HPO:probinson]"
HP:0003102,"""An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm."" [HPO:probinson, PMID:18506557]"
HP:0003103,"""An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones."" [HPO:sdoelken]"
HP:0003105,"""The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones."" [HPO:probinson]"
HP:0003106,"""Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone."" [PMID:24849102]"
HP:0003107,"""Any deviation from the normal concentration of cholesterol in the blood circulation."" []"
HP:0003108,"""An increased concentration of glycine in the urine."" [HPO:gcarletti, PMID:18901181, PMID:20240447]"
HP:0003109,"""An increased excretion of phosphates in the urine."" [HPO:curators]"
HP:0003110,"""An abnormality of the composition of urine or the levels of its components."" [HPO:probinson]"
HP:0003111,"""Abnormality of the homeostasis (concentration) of a monoatomic ion."" [HPO:probinson]"
HP:0003112,"""The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation."" [HPO:curators]"
HP:0003113,"""An abnormally decreased chloride concentration in the blood."" [HPO:probinson]"
HP:0003115,"""Abnormal rhythm of the heart."" []"
HP:0003117,"""An abnormal concentration of a hormone in the blood."" [HPO:probinson]"
HP:0003118,"""Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features."" [DDD:spark]"
HP:0003119,"""Any deviation from the normal concentration of a lipid in the blood circulation."" [HPO:probinson]"
HP:0003121,"""A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs."" [HPO:probinson]"
HP:0003124,"""An increased concentration of cholesterol in the blood."" [HPO:gcarletti]"
HP:0003125,"""Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X."" [HPO:probinson]"
HP:0003126,"""Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD)."" [PMID:95574]"
HP:0003127,"""An abnormally decreased calcium concentration in the urine."" [HPO:probinson]"
HP:0003128,"""An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids."" [HPO:probinson]"
HP:0003130,"""An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense."" [DDD:fmunitoni, HPO:jbaets]"
HP:0003131,"""An increased concentration of cystine in the urine."" [HPO:gcarletti]"
HP:0003133,"""An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract."" [HPO:probinson]"
HP:0003134,"""An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS)."" [HPO:probinson]"
HP:0003137,"""An increased concentration of proline in the urine."" [HPO:probinson]"
HP:0003138,"""An increased amount of nitrogen in the form of urea in the blood."" [HPO:gcarletti]"
HP:0003139,"""A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes."" [PMID:23726535]"
HP:0003140,T-wave inversion in the right precordial leads
HP:0003141,"""An elevated concentration of low-density lipoprotein cholesterol in the blood."" [HPO:probinson]"
HP:0003142,Excessive purine production
HP:0003144,"""A increased concentration of serotonin in the blood."" [HPO:probinson]"
HP:0003145,"""Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12."" [HPO:probinson]"
HP:0003146,"""An decreased concentration of cholesterol in the blood."" [HPO:gcarletti]"
HP:0003148,Elevated serum acid phosphatase
HP:0003149,"""An abnormally high level of uric acid in the urine."" [HPO:probinson]"
HP:0003150,"""An increased concentration of glutaric acid in the urine."" [HPO:gcarletti]"
HP:0003153,"""An elevated urinary concentration of cystathionine."" [HPO:probinson]"
HP:0003154,"""An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood."" [HPO:probinson]"
HP:0003155,"""Abnormally increased serum levels of alkaline phosphatase activity."" [HPO:probinson, PMID:29083622]"
HP:0003158,"""An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine."" [HPO:probinson]"
HP:0003159,"""Increased excretion of oxalates in the urine."" [HPO:probinson]"
HP:0003160,"""Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded."" [HPO:probinson, PMID:22516080]"
HP:0003161,"""Increased concentration of pyruvic acid in the urine."" [HPO:probinson]"
HP:0003162,Fasting hypoglycemia
HP:0003163,"""An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine."" [HPO:probinson]"
HP:0003164,Hypothalamic gonadotropin-releasing hormone deficiency
HP:0003165,"""An abnormal increased concentration of parathyroid hormone."" [HPO:probinson]"
HP:0003166,"""Increased concentration of taurine in the urine."" [HPO:probinson]"
HP:0003167,"""An increased concentration of carnosine in the urine."" [HPO:probinson]"
HP:0003168,"""An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His)."" []"
HP:0003170,"""An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint."" [HPO:probinson]"
HP:0003172,"""An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone."" [HPO:probinson]"
HP:0003173,"""Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone."" [HPO:probinson]"
HP:0003174,"""An anomaly of the ischium, which forms the lower and back part of the hip bone."" [HPO:probinson]"
HP:0003175,"""Underdevelopment of the ischium, which forms the lower and back part of the hip bone."" [HPO:probinson]"
HP:0003177,"""A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance."" [HPO:probinson]"
HP:0003179,"""Intrapelvic bulging of the medial acetabular wall."" [HPO:probinson]"
HP:0003180,"""Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does."" [HPO:probinson]"
HP:0003182,Shallow acetabular fossae
HP:0003183,"""Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones."" [HPO:probinson]"
HP:0003184,"""Reduced ability to move the femur outward to the side."" [HPO:probinson]"
HP:0003185,"""The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch."" [HPO:probinson]"
HP:0003186,"""The presence of nipples that instead of pointing outward are retracted inwards."" [HPO:sdoelken]"
HP:0003187,"""Underdevelopment of the breast."" [HPO:probinson]"
HP:0003189,"""Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base."" [PMID:19152422]"
HP:0003191,"""The presence of a notch in the margin of the ala nasi."" [HPO:probinson, PMID:19152422]"
HP:0003193,"""It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea."" [PMID:11449200]"
HP:0003194,"""Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose."" []"
HP:0003196,"""Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip."" [HPO:probinson, PMID:19152422]"
HP:0003198,"""A disorder of muscle unrelated to impairment of innervation or neuromuscular junction."" [HPO:probinson]"
HP:0003199,Decreased muscle mass
HP:0003200,"""An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm."" [HPO:probinson, PMID:12075011, PMID:16537564]"
HP:0003201,"""Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream."" [HPO:probinson]"
HP:0003202,"""The presence of skeletal muscular atrophy (which is also known as amyotrophy)."" [HPO:probinson]"
HP:0003203,"""In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria."" [HPO:probinson]"
HP:0003204,"""The intracellular accumulation of autofluorescent storage material."" [HPO:probinson, PMID:16455164]"
HP:0003205,"""An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern."" [HPO:probinson]"
HP:0003206,Decreased activity of NADPH oxidase
HP:0003207,"""Pathological deposition of calcium salts in one or more arteries."" [HPO:probinson, PMID:18519861]"
HP:0003208,"""An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern."" [HPO:probinson]"
HP:0003209,"""A decreased rate of pyruvate carboxylase activity."" [HPO:probinson]"
HP:0003210,"""An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity."" [HPO:probinson]"
HP:0003212,"""An abnormally increased overall level of immunoglobulin E in blood."" [HPO:probinson]"
HP:0003213,Deficient excision of UV-induced pyrimidine dimers in DNA
HP:0003214,Prolonged G2 phase of cell cycle
HP:0003215,"""An increased concentration of dicarboxylic acid in the urine."" [HPO:gcarletti]"
HP:0003216,"""A diffuse form of amyloidosis."" [HPO:probinson]"
HP:0003217,"""An increased concentration of glutamine in the blood."" [HPO:gcarletti, PMID:4696900]"
HP:0003218,"""An increased concentration of orotic acid in the urine."" [HPO:gcarlotti]"
HP:0003219,"""An increased concentration of ethylmalonic acid in the urine."" [HPO:probinson]"
HP:0003220,"""A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration."" [HPO:probinson]"
HP:0003221,"""Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C."" [HPO:sdoelken]"
HP:0003223,"""Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12."" [HPO:probinson]"
HP:0003224,Increased cellular sensitivity to UV light
HP:0003225,"""Decreased activity of coagulation factor V."" [HPO:probinson]"
HP:0003226,"""An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern."" [HPO:probinson]"
HP:0003228,"""An abnormally increased sodium concentration in the blood."" [HPO:probinson]"
HP:0003231,"""An increased concentration of tyrosine in the blood."" [HPO:probinson]"
HP:0003232,Mitochondrial malic enzyme reduced
HP:0003233,"""An decreased concentration of high-density lipoprotein cholesterol in the blood."" [HPO:gcarletti]"
HP:0003234,"""A decreased concentration of carnitine in the blood."" [HPO:gcarletti]"
HP:0003235,"""An increased concentration of methionine in the blood."" [HPO:gcarletti]"
HP:0003236,"""An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy."" [HPO:probinson]"
HP:0003237,"""An abnormally increased level of immunoglobulin G in blood."" [HPO:probinson]"
HP:0003238,Hyperpepsinogenemia I
HP:0003239,"""An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine."" [HPO:probinson, PMID:23093139]"
HP:0003240,"""Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate."" [PMID:4200723]"
HP:0003241,"""Underdevelopment of part or all of the external reproductive organs."" [HPO:probinson]"
HP:0003244,"""Location of the urethral opening on the inferior aspect of the penis."" [HPO:curators]"
HP:0003246,"""Increased size of the ridge of tissue that extends along the midline of the scrotum."" [HPO:probinson]"
HP:0003247,Overgrowth of external genitalia
HP:0003248,Gonadal tissue inappropriate for external genitalia or chromosomal sex
HP:0003249,Genital ulcers
HP:0003250,"""Aplasia of the vagina."" [HPO:probinson]"
HP:0003251,Male infertility
HP:0003252,Anteriorly displaced genitalia
HP:0003254,"""An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage."" [HPO:probinson]"
HP:0003256,"""An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators."" [HPO:probinson]"
HP:0003258,Glyoxalase deficiency
HP:0003259,"""An increased amount of creatinine in the blood."" [HPO:gcarletti]"
HP:0003260,"""An increased concentration of hydroxyproline in the blood."" [HPO:gcarletti]"
HP:0003261,"""An abnormally increased level of immunoglobulin A in blood."" [HPO:probinson]"
HP:0003262,"""The presence in serum of antibodies against smooth muscle."" [HPO:probinson]"
HP:0003264,Deficiency of N-acetylglucosamine-1-phosphotransferase
HP:0003265,"""A type of hyperbilirubinemia with neonatal onset."" [HPO:probinson]"
HP:0003267,"""An abnormal decrease in orotidine 5'-phosphate decarboxylase level."" [HPO:gcarletti]"
HP:0003268,"""A increased concentration of arginine in the urine."" [HPO:probinson, PMID:18901181, PMID:20240447]"
HP:0003269,Sudanophilic leukodystrophy
HP:0003270,"""Distention of the abdomen."" [HPO:probinson]"
HP:0003271,"""Abnormal increased size of the viscera of the abdomen."" [HPO:probinson]"
HP:0003272,"""An abnormality of the hip bone."" [HPO:probinson]"
HP:0003273,Hip contracture
HP:0003274,"""Underdeveloped acetabulae."" [HPO:probinson]"
HP:0003275,"""Reduced side to side width of the pelvis."" [HPO:probinson]"
HP:0003276,"""A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage."" [HPO:probinson]"
HP:0003277,Constricted iliac wing
HP:0003278,"""An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure."" [HPO:probinson]"
HP:0003279,"""Widening of the femoral head and neck."" [HPO:probinson]"
HP:0003281,"""Increased concentration of ferritin in the blood circulation."" [HPO:probinson]"
HP:0003282,"""Abnormally reduced serum levels of alkaline phosphatase."" [HPO:probinson]"
HP:0003286,"""An increased concentration of cystathionine in the blood."" [HPO:gcarletti, PMID:16902722]"
HP:0003287,"""A functional anomaly of mitochondria."" [ORCID:0000-0001-5208-3432]"
HP:0003288,Mitochondrial propionyl-CoA carboxylase defect
HP:0003292,"""A decreased concentration of leptin in the blood."" [HPO:probinson, PMID:16932309]"
HP:0003296,"""An increased concentration of threonine in the urine."" [HPO:probinson, PMID:18901181, PMID:20240447]"
HP:0003297,"""An increased concentration of lysine in the urine."" [HPO:probinson, PMID:18901181, PMID:20240447]"
HP:0003298,"""The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin."" [HPO:probinson]"
HP:0003300,"""When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval."" [HPO:probinson]"
HP:0003301,"""An irregular surface of the vertebral end plates, which are normally relatively smooth."" [HPO:probinson]"
HP:0003302,"""Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra."" [HPO:probinson, PMID:20411054]"
HP:0003304,"""Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma."" [HPO:probinson, PMID:20440613]"
HP:0003305,"""Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies)."" [HPO:probinson]"
HP:0003306,"""Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion."" [HPO:probinson, PMID:11601420, PMID:2246660]"
HP:0003307,"""Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine."" [HPO:probinson]"
HP:0003308,"""A partial dislocation of one or more intervertebral joints in the cervical vertebral column."" [HPO:probinson]"
HP:0003309,Ovoid thoracolumbar vertebrae
HP:0003310,"""Abnormality of the dens of the axis, which is also known as the odontoid process."" [HPO:probinson]"
HP:0003311,"""Developmental hypoplasia of the dens of the axis."" [HPO:probinson]"
HP:0003312,"""Abnormal morphology of vertebral body."" []"
HP:0003316,"""A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray."" [HPO:probinson, PMID:31448202, PMID:3693103]"
HP:0003318,Cervical spine hypermobility
HP:0003319,"""Any abnormality of the cervical vertebral column."" [HPO:probinson]"
HP:0003320,"""A partial dislocation of the atlantoaxial joints."" [HPO:curators]"
HP:0003321,Biconcave flattened vertebrae
HP:0003323,Progressive muscle weakness
HP:0003324,"""Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature."" [HPO:probinson]"
HP:0003325,"""Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis."" [HPO:curators]"
HP:0003326,"""Pain in muscle."" [HPO:probinson]"
HP:0003327,"""Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)."" [HPO:curators]"
HP:0003328,"""An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin."" []"
HP:0003329,Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
HP:0003330,"""Any anomaly in the composite material or the layered arrangement of the bony skeleton."" [HPO:probinson]"
HP:0003332,Absent primary metaphyseal spongiosa
HP:0003333,Increased serum beta-hexosaminidase
HP:0003334,"""An abnormal increase in catecholamine concentration in the blood."" [HPO:probinson]"
HP:0003336,"""An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage."" [HPO:probinson]"
HP:0003337,"""The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia."" [HPO:probinson]"
HP:0003338,Focal necrosis of right ventricular muscle cells
HP:0003339,"""A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid."" [HPO:probinson]"
HP:0003341,"""The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin."" [HPO:probinson]"
HP:0003343,"""Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline."" [PMID:17397529]"
HP:0003344,"""An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine."" [PMID:19177531]"
HP:0003345,"""An increased concentration of noradrenaline in the urine."" [HPO:probinson]"
HP:0003347,"""Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes."" [HPO:probinson]"
HP:0003348,"""An increased concentration of alanine in the blood."" [HPO:gcarletti, PMID:16902722, PMID:4696900]"
HP:0003349,"""A reduction in the rate of cholesterol esterification."" [HPO:probinson, PMID:3378364]"
HP:0003351,"""An decreased level of renin in the blood."" [HPO:probinson]"
HP:0003352,"""An increase in the number of chromosome sets per cell in bone marrow cells."" [HPO:probinson]"
HP:0003353,"""An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase."" [HPO:probinson]"
HP:0003354,"""An increased concentration of threonine in the blood."" [HPO:probinson]"
HP:0003355,"""An increased concentration of an amino acid in the urine."" [HPO:SKOEHLER]"
HP:0003357,"""A reduction in the level of thymic horomone."" [PMID:7058086]"
HP:0003358,"""An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells."" [HPO:probinson]"
HP:0003359,"""Decreased concentration of sulfate in the urine."" [HPO:probinson]"
HP:0003361,"""An increased concentration of tryptophan in the urine."" [HPO:gcarletti, PMID:18901181]"
HP:0003362,"""An increase in the amount of very-low-density lipoprotein cholesterol in the blood."" [HPO:gcarletti]"
HP:0003363,"""A left-right reversal (or \""mirror reflection\"") of the anatomical location of the viscera of the abdomen."" [HPO:probinson]"
HP:0003365,"""Joint pain affecting the hip."" [HPO:probinson]"
HP:0003366,Abnormal femoral neck/head morphology
HP:0003367,"""An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)."" [HPO:probinson]"
HP:0003368,"""An abnormality of the femoral head."" [HPO:probinson]"
HP:0003370,"""An abnormal flattening of the proximal epiphysis of the femur."" [HPO:probinson]"
HP:0003371,"""An abnormal enlargement of the proximal epiphysis of the femur."" [HPO:probinson]"
HP:0003375,"""A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium."" [HPO:pnrobinson]"
HP:0003376,"""An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again."" [HPO:probinson, PMID:27770207]"
HP:0003378,"""A pattern of simultaneous degeneration and regeneration of axons (see comment)."" [HPO:probinson]"
HP:0003380,"""A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy)."" [HPO:probinson]"
HP:0003382,Hypertrophic nerve changes
HP:0003383,"""Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves."" [HPO:probinson]"
HP:0003384,"""Atrophic changes of axons of the peripheral nervous system."" [HPO:probinson]"
HP:0003387,"""A reduced number of large myelinated nerve fibers."" [HPO:probinson]"
HP:0003388,"""Increased susceptibility to fatigue."" [HPO:probinson]"
HP:0003390,"""An axonal neuropathy of peripheral sensory nerves."" [HPO:curators]"
HP:0003391,"""A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs."" [HPO:probinson]"
HP:0003392,First dorsal interossei muscle weakness
HP:0003393,"""Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb."" []"
HP:0003394,"""Sudden and involuntary contractions of one or more muscles."" [HPO:probinson]"
HP:0003396,"""Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord."" [HPO:sdoelken]"
HP:0003397,Generalized hypotonia due to defect at the neuromuscular junction
HP:0003398,"""Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers."" [HPO:probinson]"
HP:0003400,"""A type of onion bulb formation prominently affecting the area of the basal lamina."" [HPO:probinson]"
HP:0003401,"""Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause."" [HPO:probinson]"
HP:0003402,"""An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction."" [HPO:probinson]"
HP:0003403,"""A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation."" [HPO:probinson]"
HP:0003405,Diffuse axonal swelling
HP:0003406,Peripheral nerve compression
HP:0003409,"""Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities."" []"
HP:0003411,"""Irregularity of the normally smooth surface of the proximal metaphysis of the femur."" []"
HP:0003413,"""An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae."" [HPO:probinson]"
HP:0003414,"""Partial dislocation of the atlantoaxial joint."" [HPO:curators]"
HP:0003416,"""An abnormal narrowing of the spinal canal."" [HPO:probinson]"
HP:0003417,"""Frontal schisis (cleft or cleavage) of vertebral bodies."" [HPO:probinson]"
HP:0003418,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back."" []"
HP:0003419,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back."" []"
HP:0003422,"""An abnormality related to a defect of vertebral separation during development."" [HPO:probinson, PMID:23653580, PMID:23801490]"
HP:0003423,Thoracolumbar kyphoscoliosis
HP:0003426,First dorsal interossei muscle atrophy
HP:0003427,Thenar muscle weakness
HP:0003429,"""Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis."" [HPO:probinson]"
HP:0003431,"""A type of decreased nerve conduction velocity that affects the motor neuron."" [HPO:probinson]"
HP:0003434,Sensory ataxic neuropathy
HP:0003435,Cold-induced hand cramps
HP:0003436,"""An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction."" [HPO:probinson]"
HP:0003438,"""Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed."" [HPO:probinson]"
HP:0003440,Horizontal sacrum
HP:0003443,"""A reduction in the size of nerve terminals."" [HPO:probinson]"
HP:0003444,"""Evidence of chronic denervation on electromyography."" [HPO:probinson]"
HP:0003445,"""The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials)."" [HPO:probinson]"
HP:0003447,"""A reduction in the number of axons in the peripheral nervous system."" [DDD:probinson]"
HP:0003448,"""Reduced speed of conduction of the action potential along a sensory nerve."" [HPO:probinson]"
HP:0003449,"""Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures."" [HPO:probinson]"
HP:0003450,"""The presence of axonal regeneration following a previous axonal lesion."" [HPO:probinson]"
HP:0003451,"""An increased rate of premature chromosome condensation."" [HPO:probinson]"
HP:0003452,Increased serum iron
HP:0003453,"""The presence of autoantibodies in the serum that react against neutrophils."" [HPO:probinson]"
HP:0003454,"""The presence in the serum of autoantibodies directed against thrombocytes."" [HPO:probinson]"
HP:0003455,"""Increased concentration of long-chain fatty acids in the blood circulation."" [HPO:probinson]"
HP:0003456,Low urinary cyclic AMP response to PTH administration
HP:0003457,"""Abnormal results of investigations using electromyography (EMG)."" [HPO:probinson, PMID:15961866, PMID:18751841]"
HP:0003458,"""The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials."" [HPO:curators]"
HP:0003459,"""A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis."" [PMID:11508831]"
HP:0003460,"""Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L)."" [HPO:probinson]"
HP:0003461,"""Excretion of peptides conjugated to sialic acid in the urine."" [HPO:probinson]"
HP:0003462,Elevated 8-dehydrocholesterol
HP:0003463,"""Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient."" [HPO:probinson, PMID:11406682]"
HP:0003465,Elevated 8(9)-cholestenol
HP:0003466,Paradoxical increased cortisol secretion on dexamethasone suppression test
HP:0003467,"""Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly."" [HPO:probinson]"
HP:0003468,"""An abnormality of one or more of the vertebrae."" [HPO:probinson]"
HP:0003469,"""Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination."" [HPO:probinson]"
HP:0003470,"""Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement."" [HPO:curators]"
HP:0003472,"""Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms."" [HPO:probinson]"
HP:0003473,"""A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."" [HPO:probinson]"
HP:0003474,"""An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing."" [HPO:probinson]"
HP:0003477,"""An abnormality characterized by disruption of the normal functioning of peripheral axons."" [HPO:probinson]"
HP:0003481,"""A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves."" [HPO:probinson]"
HP:0003482,"""Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials."" [HPO:probinson]"
HP:0003484,"""Weakness of the muscles of the arms."" [HPO:probinson]"
HP:0003487,"""Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract."" [HPO:curators]"
HP:0003489,Acute episodes of neuropathic symptoms
HP:0003491,"""An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate."" [HPO:probinson]"
HP:0003492,"""An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism."" []"
HP:0003493,"""The presence of autoantibodies in the serum that react against nuclei or nuclear components."" [HPO:probinson]"
HP:0003495,"""Cellular accumulation of GM2 gangliosides."" [PMID:30524313]"
HP:0003496,"""An abnormally increased level of immunoglobulin M in blood."" [HPO:probinson]"
HP:0003498,"""A kind of short stature in which different regions of the body are shortened to differing extents."" [HPO:probinson]"
HP:0003502,"""A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex."" [DDD:hfirth]"
HP:0003508,"""A kind of short stature in which different regions of the body are shortened to a comparable extent."" [HPO:probinson]"
HP:0003510,"""A severe degree of short stature, more than -4 SD from the mean corrected for age and sex."" [HPO:probinson]"
HP:0003513,"""A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01."" [HPO:probinson]"
HP:0003514,Deficiency or absence of cytochrome b(-245)
HP:0003517,Birth length greater than 97th percentile
HP:0003521,"""A type of disproportionate short stature characterized by a short trunk but a average-sized limbs."" [HPO:probinson]"
HP:0003524,"""A reduction in methionine synthase activity."" [HPO:probins]"
HP:0003526,"""Formation of crystals owing to an increased concentration of orotic acid in the urine."" [HPO:probinson]"
HP:0003527,"""An increased concentration of prostaglandin in the urine."" [HPO:probinson]"
HP:0003528,Elevated calcitonin
HP:0003529,"""An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels."" [HPO:probinson, PMID:23802516]"
HP:0003530,"""An increased concentration of glutaric acid in the blood."" [HPO:gcarletti]"
HP:0003532,"""An increased concentration of ornithine in the urine."" [HPO:probinson]"
HP:0003533,"""Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism."" [PMID:17718394]"
HP:0003534,"""An abnormal reduction in xanthine dehydrogenase level."" [HPO:probinson]"
HP:0003535,"""An increased amount of 3-methylglutaconic acid in the urine."" []"
HP:0003536,"""An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity."" [HPO:probinson]"
HP:0003537,"""An abnormally low level of uric acid in the blood."" [HPO:curators]"
HP:0003538,"""An increased level of iduronate-2-sulfatase activity in the blood."" [HPO:probinson]"
HP:0003540,"""An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent."" [DDD:wouwehand]"
HP:0003541,"""Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit."" [HPO:probinson]"
HP:0003542,"""An increased concentration of pyruvate in the blood."" [HPO:gcarletti]"
HP:0003546,"""A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender."" [PMID:10617757]"
HP:0003547,"""The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders."" [HPO:curators]"
HP:0003548,"""An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology."" [HPO:probinson]"
HP:0003549,"""Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)."" [HPO:curators]"
HP:0003550,"""Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs."" [HPO:probinson]"
HP:0003551,"""Reduced ability to climb stairs."" [HPO:probinson]"
HP:0003552,"""A condition in which muscles cannot be moved quickly without accompanying pain or spasm."" [HPO:probinson]"
HP:0003554,"""Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy."" [HPO:probinson]"
HP:0003555,"""Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches."" [PMID:6123177]"
HP:0003557,"""An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy."" [HPO:curators]"
HP:0003558,"""Rhabdomyolysis induced by a viral infection."" [HPO:probinson]"
HP:0003559,Muscle hyperirritability
HP:0003560,"""The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities."" [HPO:probinson, Neuromics:vstraub]"
HP:0003561,Birth length less than 3rd percentile
HP:0003562,Abnormal metaphyseal vascular invasion
HP:0003563,"""An decreased concentration of low-density lipoprotein cholesterol in the blood."" [HPO:gcarletti]"
HP:0003564,"""The presence of a folate sensitive fragile site at chromosome Xq28."" [HPO:probinson]"
HP:0003565,"""An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen."" [PMID:10524488]"
HP:0003566,"""An increased concentration of prostaglandin E2 in the blood."" [HPO:probinson]"
HP:0003568,"""A decreased level of glucose-6-phosphate isomerase."" [HPO:gcarletti]"
HP:0003570,"""Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase."" [HPO:probinson]"
HP:0003571,"""Increased concentration of proprionic acid in the blood circulation."" [PMID:22593918]"
HP:0003572,"""A decreased concentration of citrulline in the blood."" [HPO:gcarletti]"
HP:0003573,"""Increased concentration of total (conjugated and unconjugated) bilirubin in the blood."" [HPO:probinson]"
HP:0003574,"""A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension."" [HPO:probinson]"
HP:0003575,"""An abnormally increased sodium concentration in the cytosol."" [HPO:gcarletti]"
HP:0003577,"""A phenotypic abnormality that is present at birth."" [HPO:probinson]"
HP:0003581,"""Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later."" [HPO:probinson]"
HP:0003584,"""A type of adult onset with onset of symptoms after the age of 60 years."" [HPO:probinson]"
HP:0003587,"""Gradual, very slow onset of disease manifestations."" [HPO:probinson]"
HP:0003593,"""Onset of signs or symptoms of disease between 28 days to one year of life."" [HPO:probinson]"
HP:0003596,"""A type of adult onset with onset of symptoms at the age of 40 to 60 years."" [HPO:probinson]"
HP:0003606,"""Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine."" [HPO:probinson, PMID:6960353]"
HP:0003607,"""Increased concentration of 4-hydroxyphenylacetic acid in the urine."" [HPO:probinson]"
HP:0003609,"""The presence of foam cells that contain lamellar inclusion bodies."" [HPO:probinson]"
HP:0003610,"""Increased cytoplasmic staining of fibroblasts with toluidine blue."" [HPO:probinson, PMID:4195824]"
HP:0003612,"""If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood."" [HPO:probinson]"
HP:0003613,"""The presence of circulating autoantibodies to phospholipids."" [HPO:probinson]"
HP:0003614,"""Increased concentration of trimethylamine in the urine."" [HPO:probinson]"
HP:0003616,Premature separation of centromeric heterochromatin
HP:0003621,"""Onset of signs or symptoms of disease between the age of 5 and 15 years."" [HPO:probinson]"
HP:0003623,"""Onset of signs or symptoms of disease within the first 28 days of life."" [HPO:probinson]"
HP:0003634,"""Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue."" [HPO:probinson, Neuromics:vstraub]"
HP:0003635,"""Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg."" [HPO:probinson]"
HP:0003637,"""An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level."" [HPO:curators]"
HP:0003639,"""An increased concentration of adrenaline in the urine."" [HPO:probinson]"
HP:0003640,"""The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system."" []"
HP:0003641,"""The presence of free hemoglobin in the urine."" [HPO:probinson]"
HP:0003642,"""Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II."" [HPO:probinson, PMID:15105360, PMID:22516080]"
HP:0003643,"""Abnormally reduced sulfite oxidase level."" [HPO:probinson]"
HP:0003645,"""Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms."" [HPO:probinson]"
HP:0003646,"""Abnormally increased concentration of hydrogencarbonate in the urine."" [HPO:probinson]"
HP:0003647,"""A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase."" [PMID:2989828]"
HP:0003648,"""An increased concentration of lactic acid in the urine."" [HPO:probinson]"
HP:0003649,"""Abnormality of glycoside metabolism."" [HPO:probinson]"
HP:0003651,"""The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance."" [HPO:probinson]"
HP:0003652,"""Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue."" [HPO:probinson]"
HP:0003653,"""Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans."" [HPO:probinson, PMID:4195824]"
HP:0003654,"""An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level."" [HPO:gcarletti]"
HP:0003655,"""An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity."" [HPO:gcarletti]"
HP:0003656,"""Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose."" []"
HP:0003657,Granular osmiophilic deposits (GROD) in cells
HP:0003658,"""A decreased concentration of methionine in the blood."" [HPO:gcarletti]"
HP:0003665,"""Muscular atrophy affecting the muscles of the pelvis."" [HPO:curators]"
HP:0003674,"""The age group in which disease manifestations appear."" [HPO:probinson]"
HP:0003676,"""Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age."" []"
HP:0003677,"""Applies to a disease manifestation that only slowly increases in scope or severity over the course of time."" []"
HP:0003678,"""Applies to a disease manifestation that quickly increases in scope or severity over the course of time."" []"
HP:0003679,Pace of progression
HP:0003680,"""Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age."" []"
HP:0003682,"""Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another."" []"
HP:0003683,Large beaked nose
HP:0003687,"""An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells)."" [HPO:probinson, PMID:20181480]"
HP:0003688,"""An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue."" [HPO:probinson]"
HP:0003689,"""The presence of multiple deletions of mitochondrial DNA (mtDNA)."" [HPO:probinson]"
HP:0003690,"""Reduced strength and weakness of the muscles of the arms and legs."" [HPO:sdoelken]"
HP:0003691,"""Abnormal protrusion of the scapula away from the surface of the back."" [HPO:probinson]"
HP:0003693,"""Muscular atrophy affecting muscles in the distal portions of the extremities."" [HPO:curators]"
HP:0003694,"""Lack of strength of the proximal musculature occurring late in the clinical course."" [HPO:curators]"
HP:0003696,"""Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger."" [HPO:curators]"
HP:0003697,"""Muscular atrophy in the distribution of shoulder girdle and peroneal muscles."" [HPO:probinson]"
HP:0003698,Difficulty standing
HP:0003700,"""Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles."" [HPO:probinson]"
HP:0003701,"""A lack of strength of the proximal muscles."" [HPO:probinson]"
HP:0003704,Scapuloperoneal weakness
HP:0003707,"""Enlargement of the muscles of the calf due to their replacement by connective tissue or fat."" [HPO:probinson]"
HP:0003710,"""Sudden and involuntary contractions of one or more muscles brought on by physical exertion."" [HPO:probinson]"
HP:0003712,"""Abnormal increase in muscle size and mass not due to training."" [HPO:probinson]"
HP:0003713,"""Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers."" [HPO:curators]"
HP:0003715,"""Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins."" [HPO:probinson]"
HP:0003716,Generalized muscular appearance from birth
HP:0003717,Minimal subcutaneous fat
HP:0003719,Muscle mounding
HP:0003720,"""Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution."" [HPO:curators]"
HP:0003722,"""Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)."" [HPO:curators]"
HP:0003724,"""Amyotrophy affecting the muscles of the shoulder girdle."" [HPO:curators]"
HP:0003725,Firm muscles
HP:0003729,Enteroviral dermatomyositis syndrome
HP:0003730,"""Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG)."" [HPO:probinson]"
HP:0003731,"""Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)."" [HPO:curators]"
HP:0003733,"""Muscle hypertrophy affecting the thighs."" [HPO:probinson]"
HP:0003736,"""The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue."" [HPO:probinson, PMID:17027858]"
HP:0003737,"""A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers."" [HPO:probinson]"
HP:0003738,"""The occurrence of an unusually high amount of muscle pain following exercise."" [HPO:probinson]"
HP:0003739,Myoclonic spasms
HP:0003740,"""Myotonia that occurs after a period of rest and decreases with continuing exercise."" [HPO:probinson, PMID:7678441]"
HP:0003741,Congenital muscular dystrophy
HP:0003743,"""A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations."" [HPO:probinson]"
HP:0003744,"""A type of genetic anticipation observed predominantly upon transmission from affected males."" [HPO:probinson]"
HP:0003745,"""Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected."" [HPO:probinson]"
HP:0003749,"""Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis."" [HPO:probinson]"
HP:0003750,"""An abnormal, increased fatiguability of the musculature."" [HPO:curators]"
HP:0003752,"""Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching."" [HPO:probinson]"
HP:0003755,"""The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers."" [HPO:curators]"
HP:0003756,Skeletal myopathy
HP:0003758,"""A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness."" []"
HP:0003759,"""Congenital underdevelopment of lymph vessels."" [HPO:probinson]"
HP:0003760,"""Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle."" [HPO:probinson]"
HP:0003761,"""Formation of calcium deposits in any soft tissue."" [HPO:probinson]"
HP:0003762,"""A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis."" [HPO:probinson]"
HP:0003763,"""Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake."" [HPO:sdoelken, PMID:29926505]"
HP:0003764,"""A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin."" [HPO:probinson]"
HP:0003765,"""A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales)."" [HPO:probinson]"
HP:0003768,"""Episodes of muscle weakness."" [HPO:probinson]"
HP:0003771,"""Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0003774,"""A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine."" [HPO:probinson]"
HP:0003777,"""Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope."" [HPO:probinson]"
HP:0003778,Short mandibular rami
HP:0003779,Antegonial notching of mandible
HP:0003781,"""Excessive production of saliva."" [HPO:probinson]"
HP:0003782,"""A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more)."" [HPO:probinson]"
HP:0003784,Type 1 collagen overmodification
HP:0003785,"""Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine."" [KI:phemming, PMID:12615172]"
HP:0003787,"""Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers."" [HPO:probinson]"
HP:0003789,"""Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers."" [HPO:probinson]"
HP:0003791,Deposits immunoreactive to beta-amyloid protein
HP:0003795,"""Developmental hypoplasia (shortening) of middle phalanx of toe."" [HPO:probinson]"
HP:0003796,"""Irregularity of the iliac crest, which is the superior border of the wing of the ilium."" [HPO:curators]"
HP:0003797,"""Muscular atrophy affecting the muscles of the limb girdle."" [HPO:curators]"
HP:0003798,"""Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces."" [HPO:curators, PMID:11333380]"
HP:0003799,Marked delay in bone age
HP:0003800,Muscle abnormality related to mitochondrial dysfunction
HP:0003803,"""An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)."" [HPO:probinson]"
HP:0003805,"""Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions."" [HPO:probinson]"
HP:0003808,Abnormal muscle tone
HP:0003809,"""An abnormally reduced amount of adipose tissue in the thoracic cavity."" []"
HP:0003810,Late-onset distal muscle weakness
HP:0003811,"""Death within the first 28 days of life."" [HPO:probinson]"
HP:0003812,"""A variability of phenotypic features."" [HPO:probinson]"
HP:0003819,"""Death in during childhood, defined here as between the ages of 2 and 10 years."" [HPO:probinson]"
HP:0003826,"""Death of the fetus in utero after at least 22 weeks of gestation."" [HPO:probinson]"
HP:0003828,"""A variable severity of phenotypic features."" [HPO:probinson]"
HP:0003829,"""Description of conditions in which only a limited proportion of individuals with a given genotype exhibit the disease regardless of age."" [HPO:probinson]"
HP:0003831,"""Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject."" [HPO:probinson]"
HP:0003832,Abnormality of the tibial plateaux
HP:0003833,Laterally deficient tibial plateaux
HP:0003834,"""A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation."" [HPO:curators]"
HP:0003835,"""A partial dislocation of the shoulder joint."" [HPO:curators]"
HP:0003836,Stippled calcification of the shoulder
HP:0003837,"""Formation of calcified tissue in the soft tissues surrounding the shoulder."" [HPO:probinson]"
HP:0003839,Abnormality of upper limb epiphysis morphology
HP:0003840,"""A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs."" [HPO:probinson]"
HP:0003841,Fragmented epiphyses of the upper limbs
HP:0003842,Irregular epiphyses of the upper limbs
HP:0003843,Round epiphyses of the upper limbs
HP:0003844,Small epiphyses of the upper limbs
HP:0003846,Wide epiphyseal plates of the upper limbs
HP:0003848,Cupped metaphyses of the upper limbs
HP:0003849,"""The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm."" [HPO:probinson]"
HP:0003850,Upper-limb metaphyseal irregularity
HP:0003851,Lytic defects in metaphyses of the upper limbs
HP:0003852,Normal density transverse bands in metaphyses of the upper limbs
HP:0003853,Sclerosis with transverse striations in metaphyses of the upper limbs
HP:0003854,Sclerosis of metaphyses of the upper limbs
HP:0003855,Spurred metaphyses of the upper limbs
HP:0003856,"""Increased width (breadth) of metaphyses of the arms."" [HPO:probinson]"
HP:0003858,Cortical diaphyseal irregularity of the upper limbs
HP:0003859,Cortical diaphyseal thickening of the upper limbs
HP:0003860,"""An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0003861,Broad diaphyses of the upper limbs
HP:0003862,"""Missing humerus bone associated with congenital failure of development."" [HPO:probinson]"
HP:0003863,Angulated humerus
HP:0003864,"""Clefting affecting the humerus."" [HPO:curators]"
HP:0003865,"""A bending or abnormal curvature of the humerus."" [HPO:probinson]"
HP:0003866,Coarse humeral trabeculae
HP:0003867,Humeral cortical irregularity
HP:0003868,Humeral cortical thickening
HP:0003869,Humeral cortical thinning
HP:0003870,Crumpled humerus
HP:0003871,Deformed humerus
HP:0003872,"""Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage."" [HPO:probinson]"
HP:0003874,Humerus varus
HP:0003875,"""Destruction of an area of humerus bone due to a disease process, such as cancer."" []"
HP:0003876,Osteoporotic humerus
HP:0003877,Oval transradiancy of humerus
HP:0003878,Periosteal new bone of humerus
HP:0003879,Humeral pseudarthrosis
HP:0003880,Sclerotic foci of the humerus
HP:0003881,Humeral sclerosis
HP:0003882,"""Reduction in diameter of the humerus."" [HPO:probinson]"
HP:0003883,Tapered humerus
HP:0003884,Triangular humerus
HP:0003885,Undermodeled humerus
HP:0003886,Wide humerus
HP:0003887,Abnormal humeral head morphology
HP:0003888,Flattened humeral heads
HP:0003889,Abnormal deltoid tuberosity morphology
HP:0003890,Prominent deltoid tuberosities
HP:0003891,"""An anomaly of the humeral epiphysis."" [HPO:probinson]"
HP:0003892,"""Lack of formation of bone in the epiphysis of the humerus."" [HPO:probinson]"
HP:0003893,"""Ossification of the humeral epiphysis at an earlier age than normal."" [HPO:probinson]"
HP:0003894,"""A delay in the process of formation and maturation of the humeral epiphysis."" [HPO:probinson]"
HP:0003895,Flattened humeral epiphyses
HP:0003896,Irregular humeral epiphyses
HP:0003897,Irregular ossification of the humeral epiphyses
HP:0003898,Large humeral epiphyses
HP:0003899,Round humeral epiphyses
HP:0003900,Small humeral epiphyses
HP:0003901,Stippled calcification of the humeral epiphyses
HP:0003902,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis."" [HPO:probinson]"
HP:0003903,"""Increased width of the humeral epiphysis."" [HPO:probinson]"
HP:0003904,Wide epiphyses of the upper limbs
HP:0003905,Abnormality of the humeral epiphyseal plate
HP:0003906,"""Increased width of the humeral epiphyseal growth plate."" [HPO:probinson]"
HP:0003907,Abnormal humeral metaphysis morphology
HP:0003908,"""Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias."" [PMID:15206413, PMID:20544318]"
HP:0003909,Cortical subperiosteal resorption of humeral metaphyses
HP:0003910,Enlarged humeral metaphyses
HP:0003911,"""Flaring (increase of width with a splayed appearance) of the humeral metaphysis."" [HPO:probinson]"
HP:0003912,Frayed humeral metaphyses
HP:0003913,Humeral metaphyseal irregularity
HP:0003914,Irregular ossification of humeral metaphyses
HP:0003915,Lytic defects of the humeral metaphysis
HP:0003916,Normal-density transverse humeral bands
HP:0003917,Pointed humeral metaphysis
HP:0003918,Sclerotic humeral metaphysis
HP:0003919,Sclerotic humeral metaphysis with longitudinal striations
HP:0003920,Sloping humeral metaphysis
HP:0003921,Laterally sloping humeral metaphysis
HP:0003922,Spurred humeral metaphysis
HP:0003923,Square humeral metaphysis
HP:0003924,Stippled calcification of humeral metaphysis
HP:0003926,"""An anomaly of the humeral diaphysis."" [HPO:probinson]"
HP:0003927,"""An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus."" [HPO:curators]"
HP:0003928,Cortical thickening of humeral diaphysis
HP:0003929,Ground glass opacity of humeral diaphysis
HP:0003930,Lytic defects of humeral diaphysis
HP:0003931,Periosteal new bone of humeral diaphysis
HP:0003932,Sclerotic foci of humeral diaphysis
HP:0003933,Sclerosis of humeral diaphysis
HP:0003934,Slender humeral diaphysis
HP:0003935,"""Increased width of the humeral diaphysis."" [HPO:probinson]"
HP:0003938,Synostosis involving the elbow
HP:0003939,"""An abnormal osseous union (fusion) between the ulna and the humerus."" [HPO:curators]"
HP:0003940,Osteoarthritis of the elbow
HP:0003941,Stippled calcification of the elbow
HP:0003942,Synovial chondromatosis of the elbow
HP:0003943,Abnormality of the joint spaces of the elbow
HP:0003944,Narrow joint spaces of the elbow
HP:0003945,Irregular articular surfaces of the elbow joints
HP:0003946,Abnormality of the epiphyses of the elbow
HP:0003947,"""A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow."" [HPO:probinson]"
HP:0003948,Irregular epiphyses of the elbow
HP:0003949,Abnormal elbow metaphysis morphology
HP:0003950,Flared elbow metaphyses
HP:0003951,"""Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow)."" [HPO:probinson]"
HP:0003952,Sclerotic foci of metaphyses of the elbow
HP:0003953,"""Absence of one or more forearm bones associated with congenital failure of development."" [HPO:probinson]"
HP:0003954,Angulated forearm bones
HP:0003955,"""A descriptive term for a forearm bone that appears to have an additional bone within it on radiography."" [HPO:probinson]"
HP:0003956,"""A bending or abnormal curvature affecting either the radius, the ulna, or both."" [HPO:probinson]"
HP:0003957,Cortical thickening of the forearm bones
HP:0003958,Cross-fusion of the forearm bones
HP:0003959,Deformed forearm bones
HP:0003960,Exostoses of the forearm bones
HP:0003961,"""Bone fracture in the radius, ulna, or wrist."" []"
HP:0003963,Lytic defects of the forearm bones
HP:0003964,Osteoporotic forearm bones
HP:0003965,Pseudarthrosis of the forearm bones
HP:0003966,Sclerotic foci in forearm bones
HP:0003967,Sclerotic forearm bones
HP:0003969,Slender forearm bones
HP:0003970,Undermodelled forearm bones
HP:0003971,"""Abnormally wide bone of the skeleton of forearm."" [HPO:probinson]"
HP:0003973,Wide radioulnar joints
HP:0003974,"""Missing radius bone associated with congenital failure of development."" [HPO:probinson]"
HP:0003976,Constricted radius
HP:0003977,Deformed radius
HP:0003978,Fractured radius
HP:0003979,Lytic defects of the radius
HP:0003980,Pseudarthrosis of the radius
HP:0003981,"""Increased width of the radius."" [HPO:probinson]"
HP:0003982,"""Missing ulna bone associated with congenital failure of development."" [HPO:probinson]"
HP:0003984,Posteriorly dislocated ulna
HP:0003985,Exostoses of the ulna
HP:0003986,Exostoses of the radius
HP:0003987,Fractured ulna
HP:0003988,"""Increased length of the ulna."" [HPO:probinson]"
HP:0003989,Notched ulna
HP:0003990,Pointed ulna
HP:0003991,"""Osteosclerosis (increased density related to increased bone mass) of the ulna."" [HPO:probinson]"
HP:0003992,"""Reduction in diameter of the ulna."" [HPO:probinson]"
HP:0003993,"""Increased width of the ulna."" [HPO:probinson]"
HP:0003994,"""An injury of the wrist with displacement of any of the eight carpal bones."" [HPO:probinson]"
HP:0003995,Abnormality of the radial head
HP:0003996,Flattened radial head
HP:0003997,Hypoplastic radial head
HP:0003998,Constricted radial neck
HP:0003999,Abnormality of radial epiphyses
HP:0004000,"""The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance."" []"
HP:0004001,Medially deficient radial epiphyses
HP:0004002,Flattened radial epiphyses
HP:0004003,Medially flattened radial epiphyses
HP:0004004,Irregular radial epiphyses
HP:0004005,Large radial epiphyses
HP:0004006,Round radial epiphyses
HP:0004007,Sclerotic radial epiphyses
HP:0004008,Sloping radial epiphyses
HP:0004009,Medially sloping radial epiphyses
HP:0004010,Small radial epiphyses
HP:0004012,"""A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone."" [HPO:sdoelken]"
HP:0004013,Medially fused radial epiphyseal plates
HP:0004014,"""Abnormal increase in width of the epiphyseal growth plate of the radius."" [HPO:probinson]"
HP:0004015,Abnormal radial metaphysis morphology
HP:0004016,Cupped radial metaphyses
HP:0004017,Exostoses of the radial metaphysis
HP:0004018,"""The presence of a splayed (i.e.,flared) metaphyseal segment of the radius."" [HPO:probinson]"
HP:0004019,"""Irregularity of the normally smooth surface of the metaphysis of the radius."" [HPO:probinson]"
HP:0004020,Irregular ossification of the radial metaphysis
HP:0004021,Lytic defects of radial metaphysis
HP:0004022,Sclerotic radial metaphysis with longitudinal striations
HP:0004023,Sloping radial metaphysis
HP:0004024,Medially sloping radial metaphysis
HP:0004025,Spurred radial metaphysis
HP:0004026,"""Increase in width (breadth) of the radial metaphysis."" [HPO:probinson]"
HP:0004027,"""An anomaly of the radial diaphysis."" [HPO:probinson]"
HP:0004028,Spurs of radial diaphysis
HP:0004029,Lytic defects of radial diaphysis
HP:0004030,Patchy sclerosis of radial diaphysis
HP:0004031,"""Increase in width of the diaphysis of radius."" [HPO:probinson]"
HP:0004032,"""Any structural abnormality of the olecranon, a bony eminence of the proximal ulna."" []"
HP:0004033,Curved olecranon
HP:0004034,Irregular olecranon
HP:0004035,Abnormal ulnar styloid process morphology
HP:0004036,Long styloid process of ulna
HP:0004037,Abnormal ulnar epiphysis morphology
HP:0004039,"""Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis."" []"
HP:0004040,Corner fragments of ulnar metaphysis
HP:0004041,Cupped ulnar metaphysis
HP:0004042,"""Irregularity of the normally smooth surface of the metaphysis of the ulna."" [HPO:probinson]"
HP:0004043,Lytic defects of ulnar metaphysis
HP:0004044,Pointed ulnar metaphysis
HP:0004045,"""A sloped configuration of the metaphysis (shaft) of the ulna."" [HPO:curators]"
HP:0004046,Spurred ulnar metaphysis
HP:0004047,"""Increase in width (breadth) of the ulnar metaphysis."" [HPO:probinson]"
HP:0004048,Narrow joint spaces of wrist
HP:0004049,Decreased carpal angles of wrist
HP:0004050,"""The total absence of the hand, with no bony elements distal to the radius or ulna."" [PMID:19125433]"
HP:0004051,"""Ossification of hand bones at an earlier age than normal."" [HPO:probinson]"
HP:0004052,"""Ossification of hand bones is less advanced than would be expected according to age-adjusted norms."" [HPO:probinson]"
HP:0004053,"""Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand."" [HPO:probinson]"
HP:0004054,"""Osteosclerosis affecting one or more bones of the hand."" [HPO:probinson]"
HP:0004057,"""Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \""mitten\"" hand deformity."" [HPO:probinson, PMID:20301304]"
HP:0004058,Hand monodactyly
HP:0004059,"""Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius."" [HPO:probinson, PMID:28603568]"
HP:0004060,"""A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits."" [HPO:probinson]"
HP:0004095,Curved fingers
HP:0004097,"""Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges."" [HPO:curators]"
HP:0004099,"""Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit."" [PMID:19125433]"
HP:0004100,"""An anomaly of the second finger, also known as the index finger."" [HPO:probinson]"
HP:0004112,"""An abnormal groove on the midline of the nose that may extend to the nasal tip."" [HPO:sdoelken]"
HP:0004122,"""This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip."" [HPO:sdoelken]"
HP:0004132,"""An abnormal indentation of the skin in the region of the nasal tip."" [HPO:sdoelken]"
HP:0004150,"""An anomaly of the third finger."" [HPO:probinson]"
HP:0004172,Abnormality of the middle phalanx of the 3rd finger
HP:0004180,"""Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger."" [HPO:sdoelken]"
HP:0004188,Abnormal 4th finger morphology
HP:0004195,"""Osteolytic defects of the phalanges of the 4th (ring) finger."" [HPO:curators]"
HP:0004197,"""Fusion of two or more bones of the 4th finger."" [HPO:curators]"
HP:0004207,"""An abnormality affecting one or both 5th fingers."" [HPO:sdoelken]"
HP:0004209,"""Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)."" [HPO:curators, PMID:16252026]"
HP:0004213,"""Abnormality of the phalanges of the 5th (little) finger."" [HPO:sdoelken]"
HP:0004214,"""Curved phalanges of the 5th (little) finger."" [HPO:curators]"
HP:0004216,"""Dissolution or degeneration of bone tissue of the phalanges of the 5th finger."" [HPO:curators]"
HP:0004218,"""Fusion of two or more bones of the 5th finger."" [HPO:curators]"
HP:0004219,Abnormality of the middle phalanx of the 5th finger
HP:0004220,"""Hypoplastic/small middle phalanx of the fifth finger."" [HPO:skoehler, PMID:18494372]"
HP:0004222,"""A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:curators]"
HP:0004223,"""Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0004224,"""Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx."" [HPO:curators]"
HP:0004225,"""Abnormality of the distal phalanx of the 5th (little) finger."" [HPO:curators]"
HP:0004226,"""Curved appearance of the distal phalanx of the 5th (little) finger."" [HPO:curators]"
HP:0004227,"""Hypoplastic/small distal phalanx of the fifth finger."" [HPO:sdoelken]"
HP:0004230,"""A partial dislocation of the proximal interphalangeal joint of the little finger."" [HPO:sdoelken]"
HP:0004231,"""Congenital absence of a carpal bone."" [HPO:probinson]"
HP:0004232,"""The presence of more than the normal number of carpal bones."" [HPO:curators]"
HP:0004233,"""Ossification of carpal bones at an abnormally early age."" [HPO:probinson]"
HP:0004234,"""The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones."" [HPO:curators]"
HP:0004235,Comma-shaped carpal bones
HP:0004236,"""Carpal bones with irregular or fragmented margins."" [HPO:probinson]"
HP:0004237,"""Increased size of carpal bones."" [HPO:probinson]"
HP:0004238,Lytic defects of carpal bones
HP:0004239,Proximally placed carpal bones
HP:0004240,Sclerotic foci within carpal bones
HP:0004241,"""Point-shaped (punctate) calcifications affecting the carpal bones."" [HPO:curators]"
HP:0004242,Broad carpal bones
HP:0004243,Abnormality of the scaphoid
HP:0004244,Accessory scaphoid
HP:0004245,Comma-shaped scaphoid
HP:0004246,"""Formation of bone tissue of scaphoid is less than expected for age."" [HPO:sdoelken]"
HP:0004247,"""Underdevelopment of the scaphoid."" [HPO:probinson]"
HP:0004248,Abnormality of the lunate bone
HP:0004249,Accessory lunate
HP:0004250,Proximally placed lunate
HP:0004251,"""Osseous fusion of the lunate and triquetrum."" [PMID:23853014]"
HP:0004252,"""An anomaly of trapezium."" [HPO:probinson]"
HP:0004253,Absent trapezium
HP:0004254,"""Formation of bone tissue of trapezium is less than expected for age."" [HPO:probinson]"
HP:0004255,"""Underdevelopment of the trapezium."" [HPO:probinson]"
HP:0004256,Abnormality of the trapezoid bone
HP:0004257,"""Formation of bone tissue of trapezoid is less than expected for age."" [HPO:probinson]"
HP:0004258,"""Underdevelopment of the trapezoid."" [HPO:probinson]"
HP:0004259,Abnormality of the hamate bone
HP:0004260,Large hamate bone
HP:0004261,Wide hamate bone
HP:0004262,Abnormality of the capitate bone
HP:0004263,Large capitate bone
HP:0004264,Narrow carpal joint spaces
HP:0004267,Narrow small joints of the hand
HP:0004268,Osteoarthritis of the small joints of the hand
HP:0004269,"""A partial dislocation of some or all of the small joints of the hand."" [HPO:curators]"
HP:0004271,Cortical thickening of hand bones
HP:0004272,Cortical thinning of hand bones
HP:0004273,Cupped metaphyses of hand bones
HP:0004274,Deficient ossification of hand bones
HP:0004275,Duplication of hand bones
HP:0004276,"""Abnormal formation of new bone on the surface of a bone of the hand."" [HPO:curators]"
HP:0004277,Fractured hand bones
HP:0004278,"""An abnormal union between bones or parts of bones of the hand."" [HPO:sdoelken]"
HP:0004279,"""Short palm."" [HPO:probinson, PMID:19125433]"
HP:0004280,Irregular ossification of hand bones
HP:0004281,Irregular sclerosis of hand bones
HP:0004283,"""For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length."" [PMID:19125433]"
HP:0004284,Notched hand bones
HP:0004285,Overmodelled hand bones
HP:0004286,Patchy sclerosis of hand bones
HP:0004287,Pointed hand bones
HP:0004288,Pseudoepiphyses of hand bones
HP:0004289,Sclerotic foci in hand bones
HP:0004290,Sclerosis of hand bones with transverse striations
HP:0004291,Stippled calcification of hand bones
HP:0004292,Undermodelled hand bones
HP:0004293,"""Fusion of the second metacarpal-trapezoid."" [HPO:probinson]"
HP:0004294,"""A partial dislocation affecting some or all of the metacarpophalangeal joints."" [HPO:probinson]"
HP:0004295,"""An abnormality of the gastric mucous membrane."" [HPO:probinson]"
HP:0004296,Abnormal gastrointestinal vascular morphology
HP:0004297,"""An abnormality of the biliary system."" [HPO:probinson]"
HP:0004298,"""The presence of any abnormality affecting the abdominal wall."" [HPO:probinson]"
HP:0004299,"""The presence of a hernia in the abdominal wall."" [HPO:probinson]"
HP:0004302,Functional motor deficit
HP:0004303,"""Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers."" [HPO:probinson, PMID:22938878]"
HP:0004305,"""Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face."" [HPO:probinson]"
HP:0004306,"""An abnormality of the endocardium."" [HPO:probinson]"
HP:0004307,"""Developmental defect characterized by an anomalous anatomic location of the heart."" []"
HP:0004308,Ventricular arrhythmia
HP:0004309,"""An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway."" [HPO:probinson]"
HP:0004311,"""An abnormality of macrophages."" [HPO:probinson]"
HP:0004312,"""A reticulocyte abnormality."" [HPO:probinson]"
HP:0004313,"""An abnormally decreased level of immunoglobulin in blood."" [HPO:probinson]"
HP:0004315,"""An abnormally decreased level of immunoglobulin G (IgG) in blood."" [HPO:probinson]"
HP:0004319,"""Abnormally reduced levels of aldosterone."" [DDD:spark, HPO:probinson]"
HP:0004320,"""The presence of a fistula of the vagina."" [HPO:probinson]"
HP:0004321,"""The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin."" [HPO:curators]"
HP:0004322,"""A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \""short stature\"" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)."" [HPO:curators]"
HP:0004323,"""An abnormal increase or decrease of weight or an abnormal distribution of mass in the body."" [HPO:probinson]"
HP:0004324,"""Abnormally increased body weight."" []"
HP:0004325,"""Abnormally low body weight."" []"
HP:0004326,"""Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease."" [HPO:probinson]"
HP:0004327,"""Any structural anomaly of the vitreous body."" [HPO:probinson]"
HP:0004328,"""An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens)."" [HPO:probinson]"
HP:0004329,Abnormal posterior eye segment morphology
HP:0004330,"""An increase in the magnitude or amount of ossification of the skull."" [HPO:probinson]"
HP:0004331,"""A reduction in the magnitude or amount of ossification of the skull."" [HPO:probinson]"
HP:0004332,"""An abnormality of lymphocytes."" [HPO:probinson]"
HP:0004333,"""The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance."" [HPO:probinson]"
HP:0004334,"""Partial or complete wasting (atrophy) of the skin."" [HPO:probinson]"
HP:0004336,"""The presence of excessive redundant myelin in the peripheral nerve sheath."" [HPO:probinson, PMID:10932274]"
HP:0004337,"""Abnormality of an amino acid metabolic process."" [HPO:probinson]"
HP:0004338,"""Any deviation from the normal concentration of a aromatic amino acid in the blood circulation."" [HPO:probinson]"
HP:0004339,"""Any deviation from the normal concentration of a sulfur amino acid in the blood circulation."" [HPO:gcarletti]"
HP:0004340,Abnormality of vitamin B metabolism
HP:0004341,Abnormality of vitamin B12 metabolism
HP:0004342,"""Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose."" [HPO:gcarletti]"
HP:0004343,"""An abnormality of glycosphingolipid metabolism."" [HPO:probinson]"
HP:0004344,Abnormality of cerebrosidase metabolism
HP:0004345,"""Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease)."" [HPO:probinson, PMID:21937853]"
HP:0004347,"""Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles."" [HPO:probinson]"
HP:0004348,"""This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ."" [HPO:probinson]"
HP:0004349,"""A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones."" [HPO:sdoelken]"
HP:0004352,"""Any deviation from the normal concentration of a purine in the blood circulation."" []"
HP:0004353,"""Any deviation from the normal concentration of a pyrimidine in the blood circulation."" [HPO:probinson]"
HP:0004354,"""Any deviation from the normal concentration of a carboxylic acid in the blood circulation."" [HPO:gcarletti]"
HP:0004356,Abnormality of lysosomal metabolism
HP:0004357,"""Any deviation from the normal circulation of leucine in the blood circulation."" [HPO:probinson]"
HP:0004358,Abnormality of superoxide metabolism
HP:0004359,"""A deviation from the normal concentration of a fatty acid in the blood circulation."" [HPO:probinson]"
HP:0004360,"""An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH."" [HPO:probinson]"
HP:0004361,"""An abnormal concentration of leptin in the blood."" [HPO:probinson]"
HP:0004362,"""An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow."" [HPO:probinson]"
HP:0004363,"""Any deviation from the normal concentration of calcium in the blood circulation."" [HPO:probinson]"
HP:0004364,"""Any deviation from the normal concentration of a nitrogen compound in the blood circulation."" [HPO:gcarletti]"
HP:0004365,"""Any deviation from the normal concentration of tryptophan in the blood circulation."" [HPO:probinson]"
HP:0004366,"""An abnormality of glycolysis."" [HPO:probinson]"
HP:0004368,"""Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring."" []"
HP:0004369,"""Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring."" []"
HP:0004370,"""An abnormality of temperature homeostasis."" [HPO:probinson]"
HP:0004371,"""Abnormality of glycosaminoglycan metabolism."" [HPO:probinson]"
HP:0004372,Reduced consciousness/confusion
HP:0004373,"""A type of dystonia that is localized to a specific part of the body."" [HPO:probinson]"
HP:0004374,"""Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength."" [HPO:curators]"
HP:0004375,"""A tumor (abnormal growth of tissue) of the nervous system."" [HPO:probinson]"
HP:0004376,"""A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma."" [PMID:27823645]"
HP:0004377,"""Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue)."" [http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms]"
HP:0004378,"""Abnormality of the anal canal."" [HPO:probinson]"
HP:0004379,"""An abnormality of alkaline phosphatase level."" [HPO:probinson]"
HP:0004380,"""Deposition of calcium salts in the aortic valve."" [HPO:probinson]"
HP:0004381,"""A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow."" [HPO:probinson]"
HP:0004382,"""Abnormal calcification of the mitral valve."" [HPO:probinson]"
HP:0004383,"""Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta."" [HPO:probinson, PMID:22192721]"
HP:0004384,"""Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries."" [DDD:dbrown, HPO:probinson]"
HP:0004385,Protracted diarrhea
HP:0004386,"""Inflammation of the alimentary part of the gastrointestinal system."" []"
HP:0004387,"""An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine)."" [HPO:sdoelken]"
HP:0004388,"""A colon of abnormally small caliber."" [PMID:3484569]"
HP:0004389,"""A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded."" [HPO:probinson]"
HP:0004390,"""Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture."" [HPO:sdoelken, PMID:17768394]"
HP:0004392,"""A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants."" [HPO:probinson]"
HP:0004394,Multiple gastric polyps
HP:0004395,"""A deficiency in the intake of energy and nutrients."" []"
HP:0004396,"""A reduced desire to eat."" []"
HP:0004397,"""Abnormal displacement or malposition of the anus."" [HPO:probinson]"
HP:0004398,"""The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers."" [HPO:probinson, PMID:28242110]"
HP:0004399,"""Congenital atresia of the pylorus."" [HPO:probinson]"
HP:0004400,"""An abnormality of the pylorus."" [HPO:probinson]"
HP:0004401,"""Obstruction of the intestine due to abnormally thick meconium."" [HPO:probinson]"
HP:0004403,Proximal esophageal atresia
HP:0004404,"""An abnormality of the nipple."" [HPO:probinson]"
HP:0004405,Prominent nipples
HP:0004406,"Spontaneous, recurrent epistaxis"
HP:0004407,Bony paranasal bossing
HP:0004408,"""An anomaly in the ability to perceive and distinguish scents (odors)."" []"
HP:0004409,"""A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)."" [HPO:probinson]"
HP:0004411,"""Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum."" [HPO:probinson]"
HP:0004414,"""An abnormality of the pulmonary artery."" [HPO:probinson]"
HP:0004415,"""An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches."" [ORCID:0000-0002-0736-9199, PMID:30587259]"
HP:0004416,Precocious atherosclerosis
HP:0004417,"""Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still."" [PMID:27770207]"
HP:0004418,"""Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)."" [HPO:probinson]"
HP:0004419,"""Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)."" [HPO:probinson]"
HP:0004420,"""The formation of a blood clot inside an artery."" [HPO:probinson]"
HP:0004421,"""Abnormal increase in systolic blood pressure."" [HPO:probinson]"
HP:0004422,"""A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)."" [HPO:curators]"
HP:0004423,"""Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures.1, 2, 3 Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain.1, 4, 5 Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge."" [PMID:28522383]"
HP:0004425,"""A forehead with abnormal flatness."" [HPO:probinson]"
HP:0004426,"""An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \""Buccal\"" means relating to the cheek. The cheek is part of the midface"" []"
HP:0004428,"""This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations."" [HPO:probinson]"
HP:0004429,"""Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection."" [HPO:probinson]"
HP:0004430,"""A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems."" [HPO:curators]"
HP:0004431,"""An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins."" [PMID:24161035]"
HP:0004432,"""A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured."" [HPO:probinson]"
HP:0004433,"""Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens."" [HPO:probinson, PMID:2251975]"
HP:0004434,"""A reduced level of the complement component C8 in circulation."" [PMID:8098723]"
HP:0004437,"""Excessive growth of the bones of cranium, i.e., of the skull."" [HPO:probinson]"
HP:0004438,"""Bony overgrowth of the internal (endosteal) surface of the frontal bone."" [HPO:probinson]"
HP:0004439,"""A characteristic appearance resulting from defective ossification of craniofacial bones."" [HPO:probinson]"
HP:0004440,"""Premature closure of the coronal suture of skull."" [HPO:probinson]"
HP:0004442,"""A kind of craniosynostosis affecting the sagittal suture."" [HPO:probinson]"
HP:0004443,"""A kind of craniosynostosis affecting the lambdoidal suture."" [HPO:probinson]"
HP:0004444,"""The presence of erythrocytes that are sphere-shaped."" [HPO:probinson]"
HP:0004445,"""The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear."" [HPO:probinson, PMID:16304353, PMID:21250106]"
HP:0004446,"""The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear."" [HPO:probinson, PMID:16304353]"
HP:0004447,"""The presence of abnormally shaped erythrocytes."" [HPO:probinson]"
HP:0004448,"""Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver."" [HPO:curators]"
HP:0004450,"""A groove of the skin immediately in front of the ear."" [HPO:probinson]"
HP:0004451,"""A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear)."" [HPO:probinson]"
HP:0004452,"""An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea)."" [HPO:probinson]"
HP:0004453,"""A condition in which the superior portion of the helix is folded over to a greater degree than normal."" [HPO:probinson]"
HP:0004454,Abnormal middle ear reflexes
HP:0004458,"""The presence of a dilated inner part of external acoustic meatus."" [HPO:probinson]"
HP:0004459,"""A benign bony growth projecting outward from a bone surface within the external auditory canal."" [HPO:probinson]"
HP:0004461,"""Pits in the earlobes at the location where ears are typically pierced for earrings."" [PMID:6958333]"
HP:0004463,"""Lack of measurable response to stimulation of auditory evoked potentials."" [HPO:probinson]"
HP:0004464,"""Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit."" [HPO:sdoelken]"
HP:0004466,Prolonged brainstem auditory evoked potentials
HP:0004467,"""Small indentation anterior to the insertion of the ear."" [HPO:sdoelken, PMID:19152421]"
HP:0004468,"""An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue)."" []"
HP:0004469,"""Chronic inflammation of the bronchi."" [HPO:probinson]"
HP:0004470,"""A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues."" [HPO:probinson]"
HP:0004471,"""A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline."" [HPO:curators]"
HP:0004472,"""Hyperostosis (bony overgrowth) of the mandible."" [HPO:probinson]"
HP:0004474,"""The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age."" [HPO:probinson]"
HP:0004476,"""A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area."" [HPO:curators]"
HP:0004478,Ethmoidal encephalocele
HP:0004481,"""The progressive development of an abnormally large skull."" [HPO:probinson]"
HP:0004482,"""A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account."" [HPO:curators]"
HP:0004484,"""Asymmetry of the bones of the skull and the face."" [HPO:curators]"
HP:0004485,"""Stagnation of head growth seen as flattening of the head circumference curve."" [HPO:probinson]"
HP:0004487,"""An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures."" [HPO:curators]"
HP:0004488,"""The presence of an abnormally large skull with onset at birth."" [HPO:probinson]"
HP:0004490,"""Excessive growth of the calvaria."" [HPO:probinson]"
HP:0004491,"""An enlargement of the posterior fontanelle relative to age-dependent norms."" [HPO:probinson]"
HP:0004492,"""An abnormally increased width of the cranial fontanelles and sutures."" [HPO:probinson]"
HP:0004493,"""Excessive growth of the craniofacial bones."" [HPO:probinson]"
HP:0004499,Chronic rhinitis due to narrow nasal airway
HP:0004502,"""Bilateral absence (atresia) of the posterior nasal aperture (choana)."" [HPO:probinson]"
HP:0004510,"""Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells."" [HPO:probinson]"
HP:0004523,"""Increased length of the hairs of the eyebrows."" [HPO:probinson]"
HP:0004524,"""Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull)."" [HPO:curators]"
HP:0004527,Large clumps of pigment irregularly distributed along hair shaft
HP:0004528,"""Reduced or lacking hair growth in a generalized distribution."" [HPO:probinson]"
HP:0004529,"Atrophic, patchy alopecia"
HP:0004532,"""Excessive, increased hair growth located in the sacral region."" [HPO:probinson]"
HP:0004535,"""Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence."" [HPO:probinson, PMID:20400390]"
HP:0004540,"""A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth."" [HPO:probinson]"
HP:0004552,Scarring alopecia of scalp
HP:0004554,"""Generalized excessive, abnormal hairiness."" [HPO:probinson]"
HP:0004557,Anterior vertebral fusion
HP:0004558,"""A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine."" [HPO:probinson]"
HP:0004562,Beaking of vertebral bodies T12-L3
HP:0004563,"""Increased bone density affecting the bones of the spine (vertebral column)."" [HPO:curators]"
HP:0004565,Severe platyspondyly
HP:0004566,"""Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours."" [HPO:probinson, PMID:16167086]"
HP:0004568,"""Anterior tongue-like protrusions of the vertebral bodies."" [HPO:probinson]"
HP:0004570,"""Increased top to bottom height of vertebral bodies."" [HPO:probinson]"
HP:0004571,Widening of cervical spinal canal
HP:0004573,"""An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front)."" [HPO:probinson]"
HP:0004575,Fusion of midcervical facet joints
HP:0004576,"""Sclerosis (increased density) affecting vertebral end plates."" [HPO:curators]"
HP:0004580,"""An excessive concavity of the anterior surface of one or more vertebral bodies."" [HPO:curators]"
HP:0004581,Increased anterior vertebral height
HP:0004582,Irregularity of vertebral bodies
HP:0004586,"""Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward."" [HPO:probinson]"
HP:0004589,Dysplasia of second lumbar vertebra
HP:0004590,Hypoplastic sacrum
HP:0004591,Disc-like vertebral bodies
HP:0004592,"""A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine."" [HPO:probinson]"
HP:0004594,Hump-shaped mound of bone in central and posterior portions of vertebral endplate
HP:0004598,"""Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine."" [HPO:probinson]"
HP:0004599,Absent or minimally ossified vertebral bodies
HP:0004601,"""The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin."" [HPO:probinson]"
HP:0004602,"""Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine."" [HPO:probinson]"
HP:0004603,Hyperconvex vertebral body endplates
HP:0004605,"""A lack of bone mineralization of the vertebral bodies."" [HPO:probinson]"
HP:0004606,"""A lack of ossification of the vertebral bodies."" [HPO:probinson]"
HP:0004607,"""Anterior tongue-like protrusions of the lower thoracic vertebral bodies."" [HPO:probinson]"
HP:0004608,"""Anterior mislocalization of the dens of the axis."" [HPO:probinson]"
HP:0004609,Patchy distortion of vertebrae
HP:0004610,"""An abnormal narrowing of the lumbar spinal canal."" [HPO:probinson, PMID:3160275]"
HP:0004611,Anterior concavity of thoracic vertebrae
HP:0004614,"""The closed form of spina bifida with incomplete closure of S1 with intact overlying skin."" [HPO:probinson]"
HP:0004616,"""A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra."" [HPO:probinson]"
HP:0004617,"""Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends."" [HPO:probinson]"
HP:0004618,Sandwich appearance of vertebral bodies
HP:0004619,Lumbar kyphoscoliosis
HP:0004621,"""Increased size of the vertebral pedicle."" [HPO:probinson]"
HP:0004622,"""A progressive form of decreased height of the intervertebral disk."" [HPO:probinson]"
HP:0004625,"""Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates."" [HPO:probinson]"
HP:0004626,Lumbar scoliosis
HP:0004629,"""Reduced size of cervical vertebrae."" [HPO:probinson]"
HP:0004630,"""Anterior tongue-like protrusions of thoracic vertebral bodies."" [HPO:probinson]"
HP:0004631,Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0004632,"""An abnormality related to a defect of vertebral separation of cervical vertebrae during development."" [HPO:probinson]"
HP:0004633,"""Over curvature of the lower thoracic region, leading to a round back or if sever to a hump."" [HPO:probinson]"
HP:0004634,Cuboid-shaped vertebral bodies
HP:0004635,"""Fusion of the C5 and C6 cervical vertebrae."" [HPO:probinson]"
HP:0004637,Decreased cervical spine mobility
HP:0004639,"""An elevation of alpha-feto protein measured in the amniotic fluid."" [HPO:curators]"
HP:0004646,"""Underdevelopment of the nasal bone."" [HPO:probinson]"
HP:0004660,"""Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve)."" [HPO:probinson]"
HP:0004661,"""Reduced strength of the frontalis muscle (which is located on the forehead)."" [HPO:curators]"
HP:0004664,"""Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face."" [HPO:curators]"
HP:0004673,"""A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions."" [HPO:probinson]"
HP:0004676,Prominent supraorbital arches in adult
HP:0004679,Large tarsal bones
HP:0004681,"""Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot."" [PMID:19125433]"
HP:0004684,"""Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot."" [HPO:probinson]"
HP:0004686,"""Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone."" [HPO:probinson]"
HP:0004688,Irregular tarsal bones
HP:0004689,"""Short fourth metatarsal bone."" [HPO:probinson]"
HP:0004690,"""An abnormal thickening of the Achilles tendon."" [HPO:probinson]"
HP:0004691,"""Syndactyly with fusion of toes two and three."" [HPO:sdoelken]"
HP:0004692,"""Syndactyly with fusion of toes four and five."" [HPO:sdoelken]"
HP:0004695,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus."" [HPO:probinson]"
HP:0004696,Talipes cavus equinovarus
HP:0004699,"""Decrease in mass and density of the metatarsal bones."" [HPO:probinson]"
HP:0004704,"""Short (hypoplastic) fifth metatarsal bone."" [HPO:probinson]"
HP:0004712,"""An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney."" [HPO:probinson]"
HP:0004713,"""Acute renal failure with resolution of manifestations."" [HPO:probinson]"
HP:0004717,"""An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney."" [HPO:probinson]"
HP:0004719,"""An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal."" [HPO:probinson, PMID:2259758, PMID:24235286]"
HP:0004722,"""Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney."" [HPO:probinson]"
HP:0004724,"""The presence of calcium-containing calculi (stones) in the kidneys."" [HPO:probinson]"
HP:0004727,"""A defect in the ability to concentrate the urine."" [HPO:probinson]"
HP:0004729,"""Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules."" [HPO:probinson]"
HP:0004732,"""A reduction in the ability of the kidneys to remove uric acid from the serum."" [HPO:probinson]"
HP:0004734,"""Cysts of microscopic size confined to the cortex of the kidney."" [Eurenomics:ewuehl]"
HP:0004736,"""A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys."" [HPO:probinson]"
HP:0004737,"""Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%."" [Eurenomics:ewuehl, KPMP:arosenberg]"
HP:0004742,"""An abnormality of the renal collecting system."" [HPO:probinson]"
HP:0004743,"""Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules."" [HPO:probinson]"
HP:0004746,"""Electron dense deposits at the glomerular basement membrane,"" [Eurenomics:ewuehl, PMID:20301598, PMID:30085237]"
HP:0004749,"""A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit."" [HPO:probinson]"
HP:0004751,"""Episodes of ventricular tachycardia that have a sudden onset and ending."" []"
HP:0004752,"""A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset."" [HPO:probinson]"
HP:0004754,"""Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent."" [HPO:probinson, PMID:12860883]"
HP:0004755,"""Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles."" [DDD:dbrown, HPO:probinson]"
HP:0004756,"""A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms)."" []"
HP:0004757,"""Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously."" [HPO:probinson, PMID:30571060]"
HP:0004758,"""Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration."" [PMID:15913575]"
HP:0004761,Post-angioplasty coronary artery restenosis
HP:0004762,"""Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells."" [MP:0010422]"
HP:0004763,"""An episodic form of supraventricular tachycardia with abrupt onset and termination."" [PMID:18025404]"
HP:0004764,"""Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view."" [HPO:probinson, PMID:21143934]"
HP:0004768,"""Decreased number of head hairs per unit area on the anterior region of the scalp."" [HPO:probinson]"
HP:0004771,Premature graying of body hair
HP:0004779,"""Fragile, easily breakable scalp hair."" [DDD:cmoss]"
HP:0004780,"""Excessive, increased hair growth located in the elbow region."" [HPO:probinson]"
HP:0004783,"""Presence of multiple polyps in the duodenum."" [HPO:probinson]"
HP:0004784,"""The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps."" [HPO:probinson, PMID:25022750]"
HP:0004785,"""An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis."" [HPO:probinson]"
HP:0004786,Jejunal diverticula
HP:0004787,"""Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice."" [HPO:probinson, PMID:18825677]"
HP:0004788,"""Fluid retention and edema in the intestine caused by a compromised lymphatic system."" [HPO:probinson]"
HP:0004789,"""An inability to digest lactose."" [HPO:probinson]"
HP:0004790,"""Underdevelopment of the small intestine."" [HPO:probinson]"
HP:0004791,"""Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus."" [HPO:probinson]"
HP:0004792,"""The presence of a fistula between the perineum and the rectum."" [HPO:probinson]"
HP:0004794,"""A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel."" [HPO:probinson]"
HP:0004795,"""Polyp-like protrusions which are histologically hamartomas located in the stomach."" [HPO:probinson]"
HP:0004796,Gastrointestinal obstruction
HP:0004797,"""The presence of multiple areas of atresia affecting the small intestine."" [HPO:probinson]"
HP:0004798,"""Recurrent infection of the gastrointestinal tract."" [HPO:probinson]"
HP:0004799,Jejunoileal diverticula
HP:0004800,Duodenal diverticula
HP:0004802,"""A form of hemolytic anemia that occurs in repeated episodes."" [HPO:probinson]"
HP:0004804,"""A form of hemolytic anemia with congenital onset."" [HPO:probinson]"
HP:0004808,"""A form of leukemia characterized by overproduction of an early myeloid cell."" [HPO:probinson]"
HP:0004809,"""Low platelet count associated with maternal platelet-specific alloantibodies."" [HPO:probinson]"
HP:0004810,"""A type of hypoplastic anemia with congenital onset."" [HPO:probinson]"
HP:0004812,"""A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood."" [NCIT:C8644]"
HP:0004813,"""Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages."" [DDD:kfreeson]"
HP:0004814,"""A kind of hemolytic anemia that is induced by the ingestion of fava beans."" [HPO:probinson]"
HP:0004817,"""A form of hemolytic anemia that is triggered by ingestion of certain drugs."" [HPO:probinson]"
HP:0004818,Paroxysmal nocturnal hemoglobinuria
HP:0004819,"""A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits)."" [HPO:probinson]"
HP:0004820,"""An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors."" [NCIT:C7463]"
HP:0004821,"""An excessive division of the lobes of the nucleus of a neutrophil."" [HPO:probinson]"
HP:0004822,Atypical elliptocytosis
HP:0004823,"""A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes."" [HPO:probinson]"
HP:0004825,"""An abnormal increase in the binding affinity of hemoglobin for oxygen."" [HPO:probinson]"
HP:0004826,"""A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia."" [HPO:probinson]"
HP:0004828,"""A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts."" [HPO:probinson]"
HP:0004831,"""Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream."" [HPO:probinson]"
HP:0004835,"""The presence of erythrocytes that are sphere-shaped and reduced in size."" [HPO:probinson]"
HP:0004836,"""A type of acute myeloid leukemia in which abnormal promyelocytes predominate."" [HPO:probinson]"
HP:0004839,"""A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn."" [HPO:probinson, PMID:16304353]"
HP:0004840,"""A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes."" [HPO:probinson]"
HP:0004841,"""Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade."" [HPO:probinson]"
HP:0004844,"""A type of hemolytic anemia in which the Coombs test is positive."" [HPO:probinson]"
HP:0004845,"""The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation."" [PMID:24904835]"
HP:0004846,"""Bleeding that persists longer than the normal time following a surgical procedure."" [HPO:probinson]"
HP:0004848,"""A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity."" [PMID:21472706]"
HP:0004850,"""Repeated episodes of the formation of a blot clot in a deep vein."" [HPO:probinson]"
HP:0004851,"""A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate."" [HPO:probinson]"
HP:0004852,"""Decreased alkaline phosphatase measured within leukocytes."" [HPO:probinson]"
HP:0004854,"""Reduced platelet count that occurs sporadically, i.e., it comes and goes."" [HPO:probinson, PMID:8384898]"
HP:0004855,"""An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C."" [HPO:probinson]"
HP:0004856,"""A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes."" [HPO:probinson]"
HP:0004857,"""A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin."" [HPO:probinson]"
HP:0004859,"""Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes."" [HPO:probinson]"
HP:0004860,"""A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine."" [HPO:probinson]"
HP:0004861,Refractory macrocytic anemia
HP:0004863,Compensated hemolytic anemia
HP:0004864,"""A type of sideroblastic anemia that is not responsive to treatment."" [HPO:probinson]"
HP:0004866,"""Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP."" [HPO:probinson, PMID:11413156]"
HP:0004870,"""An chronic form of hemolytic anemia."" [HPO:probinson]"
HP:0004871,"""The presence of a fistula between the bowel and the perineum."" [HPO:probinson]"
HP:0004872,"""An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound."" [HPO:probinson]"
HP:0004875,Neonatal inspiratory stridor
HP:0004876,"""Pneumothorax occurring neonatally without traumatic injury to the chest or lung."" [HPO:probinson]"
HP:0004878,"""Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall."" [HPO:probinson]"
HP:0004879,"""Episodic hyperventilation."" [HPO:probinson]"
HP:0004880,"""Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections."" []"
HP:0004881,Episodic hypoventilation
HP:0004885,Episodic respiratory distress
HP:0004886,Congenital laryngeal stridor
HP:0004887,"""A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation."" [ORCID:0000-0002-7440-8864, PMID:18710593, PMID:28620428]"
HP:0004889,Intermittent episodes of respiratory insufficiency due to muscle weakness
HP:0004890,"""An abnormally elevated blood pressure in the circulation of the pulmonary artery."" [HPO:probinson]"
HP:0004891,"""Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration."" []"
HP:0004894,Laryngotracheal stenosis
HP:0004897,"""A form of lactic acidemia that occurs in relation to stress or infection."" [HPO:probinson]"
HP:0004898,"""A continuous form of lactic acidemia."" [HPO:probinson]"
HP:0004900,"""A severe form of lactic acidemia."" [HPO:probinson]"
HP:0004901,"""A form of lactic acidemia that occurs following exercise or exertion."" [HPO:probinson, PMID:15308499]"
HP:0004902,"""A form of lactic acidemia with congenital onset."" [HPO:probinson]"
HP:0004904,"""The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells."" [HPO:probinson]"
HP:0004905,"""A reduced concentration of vitamin A."" []"
HP:0004906,Hypernatremic dehydration
HP:0004909,Hypokalemic hypochloremic metabolic alkalosis
HP:0004910,Bicarbonate-wasting renal tubular acidosis
HP:0004911,"""Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids."" [HPO:probinson]"
HP:0004912,Hypophosphatemic rickets
HP:0004913,"""An intermittent (discontinuous) form of lactic acidemia."" [HPO:probinson]"
HP:0004914,"""Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period."" [HPO:probinson]"
HP:0004915,"""An impairment of galactose metabolism."" [HPO:probinson]"
HP:0004916,Generalized distal tubular acidosis
HP:0004918,"""A form of metabolic acidosis with increased serum chloride levels."" [PMID:31418093]"
HP:0004919,Galactose intolerance
HP:0004920,Phenylpyruvic acidemia
HP:0004921,"""An abnormality of magnesium ion homeostasis."" [HPO:probinson]"
HP:0004922,Atypical hyperphenylalaninemia
HP:0004923,"""An increased concentration of L-phenylalanine in the blood."" [HPO:probinson]"
HP:0004924,"""An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose."" [HPO:probinson]"
HP:0004925,"""A chronic form of lactic acidemia."" [HPO:probinson]"
HP:0004926,Orthostatic hypotension due to autonomic dysfunction
HP:0004927,"""An abnormal widening of the diameter of the pulmonary artery."" [HPO:probinson]"
HP:0004930,Abnormality of the pulmonary vasculature
HP:0004931,"""Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain."" [HPO:probinson]"
HP:0004933,"""A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space."" [HPO:probinson]"
HP:0004934,"""Abnormal calcification of the vasculature."" [HPO:probinson]"
HP:0004935,"""A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery."" [HPO:probinson]"
HP:0004936,"""Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow."" [HPO:probinson]"
HP:0004937,"""An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery."" [HPO:probinson]"
HP:0004938,"""Excessive bending, twisting, and winding of a cerebral artery."" [HPO:probinson]"
HP:0004940,"""Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body."" [HPO:probinson]"
HP:0004941,"""Increased pressure in the pre-hepatic portal vein."" [HPO:probinson]"
HP:0004942,"""Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter."" []"
HP:0004943,"""Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors."" [PMID:29040156]"
HP:0004944,"""The presence of a localized dilatation or ballooning of a cerebral artery."" [HPO:probinson]"
HP:0004945,"""A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall."" [HPO:probinson]"
HP:0004947,"""An abnormal connection between an artery and vein."" [https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567]"
HP:0004948,"""Abnormal twisting of arteries or veins."" [PMID:22433458]"
HP:0004950,"""Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication."" []"
HP:0004952,"""A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed."" [PMID:27122941]"
HP:0004955,"""Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries."" [HPO:probinson]"
HP:0004959,"""An abnormal localized widening (dilatation) of the descending thoracic aorta."" []"
HP:0004960,"""A congenital defect with aplasia (absence) of one of the right or left pulmonary artery."" [HPO:probinson, PMID:17192541]"
HP:0004961,"""An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum."" [DDD:dbrown, PMID:16549603, PMID:18458183]"
HP:0004962,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta."" [HPO:probinson]"
HP:0004963,"""Calcification, that is, pathological deposition of calcium salts in the aorta."" [HPO:probinson]"
HP:0004964,"""Increase in mass of the tunica media of the arteries in the pulmonary circulation."" [HPO:probinson]"
HP:0004966,"""Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries."" [HPO:probinson]"
HP:0004968,"""Recurrent bleeding into the parenchyma of the brain."" [DDD:dbrown]"
HP:0004969,"""Stenosis of a peripheral branch of the pulmonary artery."" [HPO:probinson]"
HP:0004970,"""An abnormal localized widening (dilatation) of the tubular part of the ascending aorta."" []"
HP:0004971,"""Underdevelopment of the pulmonary artery."" [HPO:probinson]"
HP:0004972,"""An abnormal increase in the average blood pressure in an individual during a single cardiac cycle."" [PMID:18451345]"
HP:0004974,"""Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta."" [HPO:probinson]"
HP:0004975,"""Flaring of distal femur."" [HPO:probinson]"
HP:0004976,Knee dislocation
HP:0004977,"""Missing radius bone on both sides associated with congenital failure of development."" [HPO:probinson]"
HP:0004979,"""Abnormally increased density of metaphyseal bone."" [HPO:probinson]"
HP:0004980,"""Reduction in density of metaphyseal bony tissue."" [HPO:probinson]"
HP:0004981,Prominent styloid process of ulna
HP:0004987,"""Shortening of the middle parts of the leg in relation to the upper and terminal segments."" [HPO:sdoelken]"
HP:0004990,Epiphyseal streaking
HP:0004991,"""Disproportionate shortening of the proximal segment of the arm (i.e. the humerus)."" [HPO:probinson]"
HP:0004993,"""Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones."" [HPO:probinson]"
HP:0004997,Multicentric ossification of proximal humeral epiphyses
HP:0005001,"""Patellar dislocation occurring repeated times."" [HPO:curators]"
HP:0005003,"""Absence or underdevelopment of the proximal epiphysis of the femur."" [HPO:probinson]"
HP:0005004,"""An abnormally flat form of the proximal epiphysis of the radius."" [HPO:curators]"
HP:0005005,"""Congenital onset bending or abnormal curvature of the femur that normalizes with age."" [HPO:probinson]"
HP:0005008,Large joint dislocations
HP:0005009,"""The humerus is shortened and displays flaring (widening) of the metaphyses."" [HPO:probinson]"
HP:0005010,Osteomyelitis leading to amputation due to slow healing fractures
HP:0005011,"""Shortening of the middle parts of the arm in relation to the upper and terminal segments."" [HPO:sdoelken]"
HP:0005013,"""Abnormally developed (dysplastic) distal epiphysis of the radius."" [HPO:curators]"
HP:0005017,Polyarticular chondrocalcinosis
HP:0005019,Diaphyseal thickening
HP:0005021,Bilateral elbow dislocations
HP:0005025,"""Underdevelopment of the distal portion of the humerus."" [HPO:probinson]"
HP:0005026,Mesomelic/rhizomelic limb shortening
HP:0005028,Widened proximal tibial metaphyses
HP:0005033,"""Underdevelopment of the distal portion of the ulna."" [HPO:probinson]"
HP:0005035,"""Developmental hypoplasia (shortening) of all phalanges of the foot."" [HPO:probinson]"
HP:0005036,"""Underdevelopment of the ulna on only one side."" [HPO:probinson]"
HP:0005037,"""An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna."" [HPO:curators]"
HP:0005039,"""Multiple exostoses originating in long bones."" [HPO:probinson]"
HP:0005041,"""Irregular surface of the normally relatively smooth capital femoral epiphysis."" [HPO:probinson]"
HP:0005042,"Irregular, rachitic-like metaphyses"
HP:0005043,"""Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder)."" [HPO:probinson]"
HP:0005045,"""An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0005048,Synostosis of carpal bones
HP:0005050,"""A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction."" [HPO:probinson]"
HP:0005054,"""Bony outgrowths that extend laterally from the margin of the metaphysis."" [HPO:probinson]"
HP:0005059,Arthralgia/arthritis
HP:0005060,Limited elbow flexion/extension
HP:0005063,"Fragmented, irregular epiphyses"
HP:0005066,Cone-shaped epiphyses fused within their metaphyses
HP:0005067,"""Overgrowth of the proximal part of the fibula."" [HPO:curators]"
HP:0005068,Absent styloid process of ulna
HP:0005069,Rhizo-meso-acromelic limb shortening
HP:0005070,"""A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction."" [HPO:probinson]"
HP:0005072,"""The ability of the wrist joints to move beyond their normal range of motion."" [HPO:curators]"
HP:0005084,"""A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction."" [HPO:probinson]"
HP:0005085,"""A limited ability of the knee joint to perform extension and flexion."" [HPO:curators]"
HP:0005086,Knee osteoarthritis
HP:0005089,"""An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone."" [HPO:probinson]"
HP:0005090,"""A lateral bending or abnormal curvature of the femur."" [HPO:probinson]"
HP:0005092,"""The presence of streaks (bands) of abnormally increased density of metaphyseal bone."" [HPO:probinson]"
HP:0005093,"""Absence of the proximal radial epiphysis."" [HPO:curators]"
HP:0005096,"""A bending or abnormal curvature of the distal portion of the femur."" [HPO:probinson]"
HP:0005100,Premature birth following premature rupture of fetal membranes
HP:0005101,"""A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz)."" [HPO:probinson]"
HP:0005102,"""Deterioration or loss of the tissues of the cochlea."" [HPO:probinson]"
HP:0005103,"""Ossification affecting the external ear cartilage."" [HPO:probinson, PMID:15523361, PMID:23259082]"
HP:0005104,"""Underdevelopment of the nasal septum."" [HPO:curators]"
HP:0005105,Abnormal nasal morphology
HP:0005106,"""Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs."" [HPO:curators]"
HP:0005107,"""An abnormality of the sacral bone."" [HPO:probinson]"
HP:0005108,"""Any structural abnormality of the intervertebral disk."" [HPO:probinson]"
HP:0005109,"""An abnormality of the Achilles tendon."" [HPO:probinson]"
HP:0005110,"""An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute."" [HPO:probinson]"
HP:0005112,"""An abnormal localized widening (dilatation) of the abdominal aorta."" []"
HP:0005113,"""An abnormal localized widening (dilatation) of the aortic arch."" []"
HP:0005115,"""A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm."" [HPO:probinson]"
HP:0005116,"""Abnormal tortuous (i.e., twisted) form of arteries."" [HPO:curators]"
HP:0005117,"""Abnormal increase in diastolic blood pressure."" [HPO:probinson]"
HP:0005120,"""Any structural abnormality of a cardiac atrium."" [HPO:probinson]"
HP:0005121,"""An excessive concavity of the posterior surface of one or more vertebral bodies."" [HPO:probinson]"
HP:0005129,Congenital hypertrophy of left ventricle
HP:0005132,"""Compression of the heart caused by rigid, thickened, or fused pericardial membranes."" [PMID:14966039]"
HP:0005133,"""Enlargement of the chamber of the right ventricle."" [HPO:probinson, PMID:17715105]"
HP:0005134,"""Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries."" [DDD:dbrown]"
HP:0005135,"""An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles."" [HPO:probinson]"
HP:0005136,"""Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus."" [HPO:probinson, PMID:23587525]"
HP:0005143,"""The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery."" [DDD:dbrown]"
HP:0005144,"""The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle."" [http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4, PMID:21349577]"
HP:0005145,"""Abnormal narrowing of the coronary artery."" []"
HP:0005146,"""Abnormal calcification of a cardiac valve."" [HPO:probinson]"
HP:0005147,Bidirectional ventricular ectopy
HP:0005148,"""Any defect in the valve connecting the heart and the pulmonary artery."" []"
HP:0005150,"""An impairment of the electrical continuity between the atria and ventricles."" [PMID:15372490]"
HP:0005151,"""Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch."" [DDD:dbrown]"
HP:0005152,"""A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells."" [PMID:21585276, PMID:28050600]"
HP:0005155,"""A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms)."" []"
HP:0005156,"""Underdeveloped, small left heart atrium"" []"
HP:0005157,"""Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy."" [HPO:probinson]"
HP:0005160,"""Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium."" [HPO:probinson]"
HP:0005162,"""Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole."" [http://www.heart.org/HEARTORG/Conditions/HeartFailure/AboutHeartFailure/Types-of-Heart-Failure_UCM_306323_Article.jsp#.WmeKyJM-dL4, PMID:10956313]"
HP:0005164,"""A congenital malformation of the pulmonary valve characterized by leaflet deformation."" [PMID:7704986]"
HP:0005165,"""Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long."" [HPO:probinson]"
HP:0005168,"""An abnormal increase in magnitude of the pressure in the right atrium."" [PMID:25211049]"
HP:0005170,"""A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex."" []"
HP:0005172,"""Conduction block in the posterior division of the left bundle branch of the bundle of His."" [HPO:probinson]"
HP:0005174,"""Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency."" [HPO:probinson, PMID:5817839]"
HP:0005176,"""A congenital malformation of the aortic valve characterized by leaflet deformation."" [PMID:21349746]"
HP:0005177,"""Arteriosclerosis occurring at an age that is younger than usual."" [HPO:probinson]"
HP:0005178,"""A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex."" []"
HP:0005180,"""Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium."" [HPO:probinson]"
HP:0005181,"""Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45."" [PMID:28070240]"
HP:0005182,"""The presence of a bicuspid pulmonary valve."" [HPO:probinson]"
HP:0005183,"""An abnormal dilatation of lymph vessels in the pericardium."" [PMID:18391124]"
HP:0005184,"""A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations."" [PMID:24097136]"
HP:0005185,"""A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly."" [PMID:24173273, PMID:7713107]"
HP:0005186,Synovial hypertrophy
HP:0005187,Progressive joint destruction
HP:0005190,Proximal finger joint hyperextensibility
HP:0005191,Congenital knee dislocation
HP:0005193,Restricted large joint movement
HP:0005194,"""Abnormally flat shape of the heads of the metatarsal bones."" [HPO:probinson]"
HP:0005195,Polyarticular arthropathy
HP:0005197,"""A sensation of stiffness in the joints that occurs following waking up in the morning."" [HPO:curators]"
HP:0005198,"""Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity."" [HPO:curators]"
HP:0005199,"""Absence of the abdominal musculature."" [HPO:probinson]"
HP:0005200,Retroperitoneal fibrosis
HP:0005201,Anomalous splenoportal venous system
HP:0005202,"""A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach."" [PMID:23652324]"
HP:0005203,"""The occurrence of the full-thickness tear (perforation) of the wall of the esophagus."" [HPO:probinson]"
HP:0005206,"""Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis."" [HPO:probinson]"
HP:0005207,"""Hypertrophy of the stomach."" [HPO:probinson]"
HP:0005208,"""Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption."" [HPO:probinson]"
HP:0005209,"""The presence of cyst of the intrahepatic bile duct."" [HPO:probinson]"
HP:0005210,"""Underdevelopment of the colon."" [HPO:probinson]"
HP:0005211,Midgut malrotation
HP:0005212,"""Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation."" [HPO:probinson, PMID:13316552]"
HP:0005213,"""The presence of abnormal calcium deposition lesions in the pancreas."" [HPO:probinson]"
HP:0005214,"""Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal."" [HPO:probinson]"
HP:0005215,"""Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection."" [HPO:probinson]"
HP:0005216,"""An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing."" [PMID:23713640]"
HP:0005217,Duplication of internal organs
HP:0005218,"""The presence of a fistula (abnormal tunnel) between the anal canal and the perineum."" [HPO:probinson]"
HP:0005219,"""Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12."" [HPO:probinson]"
HP:0005220,Multiple intestinal neurofibromatosis
HP:0005222,"""The presence of multiple diverticula of the intestine."" [HPO:probinson]"
HP:0005223,Duplicated colon
HP:0005224,"""A collection of pus in the area of the rectum."" [HPO:probinson]"
HP:0005225,"""Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds."" [HPO:6045396, HPO:probinson]"
HP:0005227,"""Presence of multiple adenomatous polyps in the colon."" [HPO:probinson]"
HP:0005229,Jejunoileal ulceration
HP:0005230,"""Obstruction affecting the biliary tree."" [HPO:probinson]"
HP:0005231,"""A chronic form of gastritis."" [HPO:probinson]"
HP:0005232,"""The presence of developmental dysplasia of the pancreas."" [HPO:probinson]"
HP:0005233,"""The presence of a hypoplastic gallbladder."" [HPO:probinson]"
HP:0005234,Neonatal intestinal obstruction
HP:0005235,"""A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum."" [HPO:probinson]"
HP:0005236,"""A form of chronic pancreatitis that is characterized by calcification."" [HPO:probinson]"
HP:0005237,"""The presence of degenerative changes of the liver."" [HPO:probinson]"
HP:0005238,Discrete intestinal polyps
HP:0005240,Esophageal obstruction
HP:0005241,"""A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel."" [HPO:probinson, PMID:596929]"
HP:0005242,"""Atresia in the extrahepatic bile duct."" [HPO:probinson]"
HP:0005243,"""Failure to form of portions of the abdominal musculature."" [HPO:probinson]"
HP:0005244,Gastrointestinal infarctions
HP:0005245,"""Developmental hypoplasia of the intestine."" [HPO:probinson]"
HP:0005246,"""A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds."" [HPO:probinson]"
HP:0005247,"""Underdevelopment of the abdominal musculature."" [HPO:probinson]"
HP:0005248,"""Atresia in the intrahepatic bile duct."" [HPO:probinson]"
HP:0005249,Functional intestinal obstruction
HP:0005250,High intestinal obstruction
HP:0005253,Increased anterioposterior diameter of thorax
HP:0005254,Unilateral chest hypoplasia
HP:0005255,"""Aplasia (congenital absence) of the pectoralis minor."" [HPO:probinson]"
HP:0005256,"""Aplasia (congenital absence) of the pectoralis minor on only one side of the chest."" [HPO:probinson]"
HP:0005257,Thoracic hypoplasia
HP:0005258,Pectoral muscle hypoplasia/aplasia
HP:0005259,"""Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest."" [PMID:23289840]"
HP:0005261,"""Hemorrhage occurring within a joint."" [HPO:gcarletti]"
HP:0005262,Abnormality of the synovia
HP:0005263,"""The presence of inflammation of the gastric mucous membrane."" [HPO:probinson]"
HP:0005264,"""An abnormality of the gallbladder."" [HPO:probinson]"
HP:0005265,"""An abnormality of the jejunum, i.e., of the middle section of the small intestine."" [HPO:probinson]"
HP:0005266,"""A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base."" [HPO:probinson]"
HP:0005267,Premature delivery because of cervical insufficiency or membrane fragility
HP:0005268,"""A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy."" [HPO:probinson]"
HP:0005272,"""Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure)."" [PMID:19125428]"
HP:0005273,"""Lack of the cartilage of the nasal septum."" [HPO:probinson]"
HP:0005274,Prominent nasal tip
HP:0005275,Cartilaginous ossification of nose
HP:0005278,Hypoplastic nasal tip
HP:0005280,"""Posterior positioning of the nasal root in relation to the overall facial profile for age."" [PMID:19152422]"
HP:0005281,Hypoplastic nasal bridge
HP:0005285,Absent nasal bridge
HP:0005288,"""Abnormality of the nostril."" [HPO:curators]"
HP:0005289,Abnormality of the nasolabial region
HP:0005290,Internal carotid artery hypoplasia
HP:0005291,Inflammatory arteriopathy
HP:0005292,Intimal thickening in the coronary arteries
HP:0005293,Venous insufficiency
HP:0005294,"""A separation (dissection) of the layers of an artery."" [HPO:probinson]"
HP:0005295,"""Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum."" [HPO:probinson, PMID:17593995, PMID:18651460]"
HP:0005297,"""Peripheral arterial stenosis with onset before the age of 50 years."" []"
HP:0005300,Nodular inflammatory vasculitis
HP:0005301,"""A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress."" [PMID:18847480]"
HP:0005302,"""Abnormal tortuous (i.e., twisted) form of the carotid arteries."" [HPO:probinson]"
HP:0005303,"""Calcification, that is, pathological deposition of calcium salts in the arch of aorta."" [HPO:probinson]"
HP:0005304,Hypoplastic pulmonary veins
HP:0005305,"""Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow."" [HPO:probinson]"
HP:0005306,"""The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces."" [HPO:probinson]"
HP:0005307,Postural hypotension with compensatory tachycardia
HP:0005308,Pulmonary artery vasoconstriction
HP:0005310,"""A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta."" [HPO:probinson, PMID:16088500]"
HP:0005311,"""A developmental defect characterized by the lack of formation of the pulmonary blood vessels."" []"
HP:0005312,"""Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation."" [HPO:probinson]"
HP:0005313,"""An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer."" [PMID:27939641]"
HP:0005314,Anomalous branches of internal carotid artery
HP:0005316,Peripheral pulmonary vessel aplasia
HP:0005317,"""Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units."" []"
HP:0005318,"""Inflammation of the blood vessels within the brain."" [HPO:probinson]"
HP:0005320,Lack of facial subcutaneous fat
HP:0005321,"""A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations."" [HPO:probinson]"
HP:0005322,Prominent nasal septum
HP:0005323,"""Unilateral overgrowth of facial tissues, including muscles, bones and skin."" [HPO:probinson]"
HP:0005324,"""An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed."" [DDD:cwright]"
HP:0005325,"""A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows."" [HPO:probinson]"
HP:0005326,"""Underdevelopment of the philtrum."" [HPO:probinson]"
HP:0005327,Loss of facial expression
HP:0005328,"""A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance."" [HPO:probinson]"
HP:0005329,Fixed facial expression
HP:0005332,"""Recurrent partial dislocations of the mandible."" [HPO:curators]"
HP:0005335,Sleepy facial expression
HP:0005336,Forehead hyperpigmentation
HP:0005338,"""Decreased density/number and/or decreased diameter of lateral eyebrow hairs."" [HPO:probinson]"
HP:0005339,"""An abnormality of the complement system."" [HPO:probinson, PMID:19388161]"
HP:0005340,Spastic/hyperactive bladder
HP:0005341,"""Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system."" [HPO:probinson]"
HP:0005343,"""Underdevelopment of the urinary bladder."" [HPO:probinson]"
HP:0005344,"""Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches."" []"
HP:0005345,"""An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava."" []"
HP:0005346,Abnormal facial expression
HP:0005347,"""Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.\nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes."" [PMID:25375853]"
HP:0005348,"""Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities."" [HPO:curators]"
HP:0005349,"""Hypoplasia of the epiglottis."" [HPO:probinson]"
HP:0005352,"""A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms."" [PMID:18755723]"
HP:0005353,"""Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus."" []"
HP:0005354,"""Complete inability of T cells to perform their functions in cell-mediated immunity."" []"
HP:0005356,"""A reduced level of the complement component Factor I in circulation."" [https://emedicine.medscape.com/article/135478-overview]"
HP:0005357,"""Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity."" [GO:0030183]"
HP:0005359,"""Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination."" [HPO:probinson]"
HP:0005360,"""Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox."" []"
HP:0005363,"""A general term referring to a defect in immunity resulting from impaired antibody production."" []"
HP:0005365,"""A severe form of B lymphocytopenia in which the count of B cells is very low or absent."" [HPO:probinson]"
HP:0005366,"""Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae."" [HPO:probinson]"
HP:0005368,"""An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system."" [HPO:probinson]"
HP:0005369,"""A reduced level of the complement component Factor H in circulation."" [https://emedicine.medscape.com/article/135478-overview]"
HP:0005372,"""An abnormality of the physiological functioning of B cells."" [HPO:probinson]"
HP:0005374,"""An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity."" [http://www.dictionary.com/browse/cellular-immunodeficiency]"
HP:0005376,"""Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae."" [HPO:probinson]"
HP:0005381,"""Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus."" [HPO:curators]"
HP:0005384,"""A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of"" [GOC:mgi_curators, ISBN:0781735149]"
HP:0005386,"""Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection."" [HPO:probinson]"
HP:0005387,"""A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications."" [PMID:23321211]"
HP:0005389,"""An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products."" [https://en.wikipedia.org/wiki/Alternative_complement_pathway]"
HP:0005390,"""Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system."" [HPO:probinson]"
HP:0005396,"""Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e."" []"
HP:0005400,"""An abnormal reduction of the cell motility of neutrophils."" [HPO:probinson]"
HP:0005401,"""An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections."" [HPO:probinson]"
HP:0005403,"""An abnormally low count of T cells."" [HPO:probinson]"
HP:0005404,"""An abnormal increase from the normal count of B cells."" [HPO:probinson]"
HP:0005406,"""Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis."" [HPO:probinson]"
HP:0005407,"""A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count."" [HPO:probinson]"
HP:0005411,"""Persistent overgrowth of Candida albicans in the gastrointestinal tract."" [HPO:probinson]"
HP:0005413,"""An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant."" [PMID:15663032]"
HP:0005415,"""A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells."" [HPO:probinson]"
HP:0005416,"""A reduced level of the complement component factor B in circulation."" [https://emedicine.medscape.com/article/135478-overview]"
HP:0005419,"""Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific."" [ISBN:0781735149]"
HP:0005420,"""Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents."" [HPO:probinson]"
HP:0005421,"""A reduced level of the complement component C3 in circulation."" [https://emedicine.medscape.com/article/135478-overview]"
HP:0005422,"""Lack of detectible CD8-positive T cells"" []"
HP:0005423,"""An abnormality of the functioning of any aspect of the alternative complement pathway."" []"
HP:0005424,"""Absence of specific immunoglobulins directed against a specific antigen or microorganism."" [PMID:17100769]"
HP:0005425,"""An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections."" [HPO:probinson]"
HP:0005428,Severe recurrent varicella
HP:0005429,"""Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections."" [ORCID:0000-0001-7941-2961]"
HP:0005430,"""Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)."" [HPO:curators]"
HP:0005432,"""At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia."" [HPO:probinson]"
HP:0005435,"""Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity."" [ORCID:0000-0001-7941-2961]"
HP:0005437,"""Recurrent infections at an early age with improvement in later childhood."" [HPO:probinson]"
HP:0005439,"""Hypoplasia of the maxillozygomatic complex."" [HPO:probinson]"
HP:0005441,"""An increased density in the cranial sutures following obliteration."" [HPO:curators]"
HP:0005442,"""The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed."" [HPO:curators]"
HP:0005445,"""Abnormal increased size of the posterior cranial fossa."" [PMID:28295149]"
HP:0005446,"""Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal."" [HPO:probinson]"
HP:0005449,Bridged sella turcica
HP:0005450,"""An increase in bone density affecting the calvaria (roof of the skull)."" [HPO:curators]"
HP:0005451,Decreased cranial base ossification
HP:0005453,"""Aplasia or hypoplasia of the paranasal sinuses."" [HPO:probinson]"
HP:0005456,"""Lack (aplasia) of the ethmoidal sinus."" [HPO:probinson]"
HP:0005458,"""Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point."" [DDD:awilkie, HPO:probinson]"
HP:0005461,Craniofacial disproportion
HP:0005462,"""The presence of calcium deposition in the falx cerebri."" [HPO:probinson]"
HP:0005463,Elongated sella turcica
HP:0005464,"""Abnormally increased density of craniofacial bone tissue."" [HPO:probinson]"
HP:0005465,"""Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton."" [HPO:probinson]"
HP:0005466,"""Underdevelopment of the frontal bone."" [HPO:probinson]"
HP:0005469,"""Reduced convexity of the occiput (posterior part of skull)."" [PMID:19125436]"
HP:0005472,Orbital craniosynostosis
HP:0005473,"""Bony fusion of malleus, incus, and stapes."" [HPO:probinson]"
HP:0005474,"""Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)."" [DDD:awilkie, HPO:probinson, ORCID:0000-0001-8612-1062, PMID:31173381]"
HP:0005476,"""The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed."" [HPO:curators]"
HP:0005477,"""Progressively increasing bone density of the skull base without significant changes in bony contour."" [HPO:probinson]"
HP:0005478,Prominent frontal sinuses
HP:0005479,"""An abnormally decreased level of immunoglobulin E (IgE) in blood."" [HPO:probinson]"
HP:0005482,"""A deviation in any aspect of the alternative complement pathway."" []"
HP:0005483,"""An abnormality of the epiglottis."" [HPO:probinson]"
HP:0005484,"""Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth."" [HPO:probinson]"
HP:0005486,"""A fontanelle that is small for age."" [HPO:probinson, PMID:12825844]"
HP:0005487,"""Vertical bony ridge positioned in the midline of the forehead."" [HPO:probinson, PMID:19125436]"
HP:0005490,"""The postnatal development of an abnormally large skull (macrocephaly)."" [HPO:probinson]"
HP:0005494,Premature posterior fontanelle closure
HP:0005495,"""The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root."" [HPO:probinson, PMID:11711818]"
HP:0005498,Midline skin dimples over anterior/posterior fontanelles
HP:0005502,Increased red cell osmotic fragility
HP:0005505,Refractory anemia
HP:0005506,"""A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate."" [HPO:probinson]"
HP:0005507,"""Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues."" [HPO:probinson]"
HP:0005508,"""Presence of a monoclonal immunoglobulin M protein in the serum."" [HPO:probinson, PMID:25815903]"
HP:0005510,"""A transient reduction in the number of erythroblasts in the circulation."" [HPO:probinson]"
HP:0005511,"""Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells."" [HPO:probinson]"
HP:0005512,"""A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph."" [https://en.wikipedia.org/wiki/Staphylococcus_aureus]"
HP:0005513,"""Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow."" [HPO:probinson]"
HP:0005517,"""A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas."" [HPO:probinson]"
HP:0005518,"""Larger than normal size of erythrocytes."" [HPO:probinson]"
HP:0005520,"""A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced."" [HPO:probinson]"
HP:0005521,"""Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels."" [HPO:probinson, PMID:10451465, PMID:11816725]"
HP:0005522,"""A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment."" [HPO:probinson]"
HP:0005523,Lymphoproliferative disorder
HP:0005524,Macrocytic hemolytic disease
HP:0005525,Spontaneous hemolytic crises
HP:0005526,"""A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias."" [NCIT:C7539]"
HP:0005527,"""Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade."" [DDD:wouwehand, HPO:probinson]"
HP:0005528,"""A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat."" [DDD:wouwehand, HPO:probinson]"
HP:0005531,"""A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias."" [HPO:probinson, PMID:9107085]"
HP:0005532,Macrocytic dyserythropoietic anemia
HP:0005534,"""A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts."" [PMID:22966823]"
HP:0005535,"""A form of hemolytic anemia that can be triggered by exertion."" [HPO:probinson]"
HP:0005537,"""Average platelet volume below the lower limit of the normal reference interval."" [DDD:wouwehand]"
HP:0005539,"""A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent."" [ISBN:9780721600406]"
HP:0005540,"""A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns."" [HPO:probinson]"
HP:0005541,"""Congenital onset of a marked decrease in the number of granulocytes."" [HPO:probinson]"
HP:0005542,"""An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot."" [HPO:probinson]"
HP:0005543,"""An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va."" [HPO:probinson]"
HP:0005546,Increased red cell osmotic resistance
HP:0005547,"""Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential."" [HPO:probinson]"
HP:0005548,"""A reduced count of megakaryocytes."" [HPO:probinson]"
HP:0005550,"""A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias."" [HPO:curators]"
HP:0005556,"""The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \""metopic suture\""."" [HPO:curators]"
HP:0005557,"""An abnormality of the zygomatic arch, also known as the cheek bone."" [HPO:probinson]"
HP:0005558,"""A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia."" [NCIT:C3483]"
HP:0005559,Abnormality of the kinin-kallikrein system
HP:0005560,"""Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia."" [HPO:probinson]"
HP:0005561,"""An anomaly of the form or number of cells in the bone marrow."" [DDD:wouwehand, HPO:probinson]"
HP:0005562,"""The presence of many cysts in the kidney."" [Eurenomics:ewuehl]"
HP:0005563,"""A reduction in the count of nephrons per kidney."" [Eurenomics:ewuehl]"
HP:0005564,"""A lack of differentiation between renal cortex and medulla on diagnostic imaging."" [HPO:probinson]"
HP:0005565,"""Reduced differentiation between renal cortex and medulla on diagnostic imaging."" [HPO:probinson]"
HP:0005567,"""High urine magnesium in the presence of hypomagnesemia."" [Eurenomics:ewuehl]"
HP:0005571,Increased renal tubular phosphate reabsorption
HP:0005572,Decreased renal tubular phosphate excretion
HP:0005574,"""A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss."" [HPO:probinson]"
HP:0005575,"""A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease."" [PMID:19846853, PMID:28416508]"
HP:0005576,"""A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy."" [HPO:probinson, PMID:19144691, PMID:22449945]"
HP:0005579,"""Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine."" [PMID:25820368]"
HP:0005580,"""A duplication of the renal pelvis."" [HPO:probinson]"
HP:0005583,"""DIsruption and breaking up of the basement membrane of the tubules of the kidney."" [HPO:probinson]"
HP:0005584,"""A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule."" [HPO:probinson]"
HP:0005585,Spotty hyperpigmentation
HP:0005586,Hyperpigmentation in sun-exposed areas
HP:0005587,Profuse pigmented skin lesions
HP:0005588,"""A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected."" [HPO:probinson]"
HP:0005590,Spotty hypopigmentation
HP:0005592,"""The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes."" [HPO:probinson]"
HP:0005593,"Macular hypopigmented whorls, streaks, and patches"
HP:0005595,Generalized hyperkeratosis
HP:0005597,"""Loss of all scalp hair with congenital onset."" [HPO:probinson]"
HP:0005598,"""Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution."" [HPO:curators]"
HP:0005599,Hypopigmentation of hair
HP:0005600,"""The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child."" [HPO:probinson, PMID:21139903]"
HP:0005602,Progressive vitiligo
HP:0005603,Numerous congenital melanocytic nevi
HP:0005605,"""Large hypermelanotic macules with jagged borders."" [HPO:probinson]"
HP:0005606,Hyperpigmented nevi and streak
HP:0005607,Abnormal tracheobronchial morphology
HP:0005608,"""The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium."" [HPO:probinson, PMID:14571173, PMID:16553121, PMID:21170223]"
HP:0005609,Gallbladder dysfunction
HP:0005612,Arthrogryposis-like hand anomaly
HP:0005613,"""Absence or underdevelopment of the femur."" [HPO:probinson]"
HP:0005616,"""An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body."" [HPO:curators]"
HP:0005617,Bilateral camptodactyly
HP:0005619,"""Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance."" [HPO:probinson]"
HP:0005620,"""The ability of the interphalangeal joints to move beyond their normal range of motion."" [HPO:curators]"
HP:0005621,"""An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side."" [PMID:33247084]"
HP:0005622,"""Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately."" [HPO:probinson]"
HP:0005623,"""Absent ossification of the calvaria (vault of the skull)."" [HPO:probinson]"
HP:0005625,"""Osteoporosis affecting predominantly the vertebrae."" [HPO:curators]"
HP:0005626,"""Bony fusion of the posterior part of the L5 vertebral body with the sacrum."" [PMID:5443339]"
HP:0005627,"""This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes."" [HPO:probinson]"
HP:0005632,Absent forearm
HP:0005638,Decreased anterioposterior diameter of lumbar vertebral bodies
HP:0005639,"""The ability of the joints of the hand to move beyond their normal range of motion."" [HPO:curators]"
HP:0005640,Abnormal vertebral segmentation and fusion
HP:0005643,"""Underdevelopment (hypoplasia) of the third toe."" [HPO:probinson]"
HP:0005645,"""The presence of abnormal calcium deposition of the intervertebral disk."" [HPO:probinson]"
HP:0005648,"""Underdevelopment of the ulna on both sides."" [HPO:probinson]"
HP:0005650,"""A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints."" [HPO:probinson]"
HP:0005652,"""Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity."" [HPO:probinson]"
HP:0005653,"""Moderate osteoporosis."" [HPO:curators]"
HP:0005655,"""Multiple exostoses originating in the fingers and toes."" [HPO:probinson]"
HP:0005656,"""A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies."" [HPO:probinson]"
HP:0005659,Thoracic kyphoscoliosis
HP:0005661,"""Osteomyelitis caused by infection with the bacteria, salmonella."" [PMID:26668420]"
HP:0005665,"""Extreme thickening of the cortex of long bones."" [HPO:curators]"
HP:0005667,"""Separation of the odontoid process from the body of the axis."" [HPO:probinson, PMID:21543665, PMID:22224150]"
HP:0005671,"""Deposition of calcium salts on both sides of the brain."" [HPO:probinson]"
HP:0005676,Rudimentary postaxial polydactyly of hands
HP:0005678,Anterior atlanto-occipital dislocation
HP:0005679,"""An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints."" [HPO:probinson]"
HP:0005680,"""A tongue-like protusion from the anterior aspect of lumbar vertebral bodies."" [PMID:25349664]"
HP:0005681,Juvenile rheumatoid arthritis
HP:0005682,Talocalcaneal synostosis
HP:0005684,"""An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function."" [HPO:probinson, PMID:8923935]"
HP:0005686,"""Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:curators]"
HP:0005687,Deformed humeral heads
HP:0005688,Dysplastic distal thumb phalanges with a central hole
HP:0005689,Dermatoglyphic ridges abnormal
HP:0005692,"""Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles."" [https://orcid.org/0000-0002-6548-5200]"
HP:0005694,Partial fusion of proximal row of carpal bones
HP:0005696,"""Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal."" [HPO:probinson]"
HP:0005700,Increased bone density with cystic changes
HP:0005701,Multiple enchondromatosis
HP:0005707,"""A bilateral form of triphalangeal thumb."" [HPO:probinson]"
HP:0005709,2-3 toe cutaneous syndactyly
HP:0005715,Flattened knee epiphyses
HP:0005716,Lethal skeletal dysplasia
HP:0005720,"""Abnormal reduction in length of all metacarpal bones."" [HPO:probinson]"
HP:0005722,"""The ability of the thumb joints to move beyond their normal range of motion."" [HPO:curators]"
HP:0005723,Shoe-shaped sella turcica
HP:0005725,"""A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand."" [HPO:probinson]"
HP:0005726,Thumbs hypoplastic with bulbous tips
HP:0005731,"""An abnormal irregularity of cortical bone."" [HPO:curators]"
HP:0005733,"""An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging)."" [HPO:probinson]"
HP:0005736,"""Underdevelopment (reduced size) of the tibia."" [HPO:probinson]"
HP:0005739,"""Partial dislocation of the head of the radius in the posterior direction."" [HPO:curators]"
HP:0005743,"""Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature."" [HPO:probinson, PMID:29481348, PMID:30020602]"
HP:0005745,Congenital foot contractures
HP:0005746,"""An increase in bone density affecting the basicranium (base of the skull)."" [HPO:probinson]"
HP:0005747,Easily subluxated first metacarpophalangeal joints
HP:0005750,"""A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin."" []"
HP:0005752,Flattened moderately deformed vertebrae
HP:0005756,"""The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period."" [HPO:probinson]"
HP:0005758,"""Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum."" [HPO:probinson, PMID:10084535]"
HP:0005759,"""An abnormally small and flat configuration of the posterior cranial fossa."" [HPO:curators]"
HP:0005764,Polyarticular arthritis
HP:0005765,Sacral meningocele
HP:0005766,Disproportionate shortening of the tibia
HP:0005767,1-2 toe complete cutaneous syndactyly
HP:0005768,"""A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4."" [HPO:probinson]"
HP:0005769,"""Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger)."" [HPO:probinson]"
HP:0005772,"""Absence or underdevelopment of the tibia."" [HPO:curators]"
HP:0005773,"""Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm."" [HPO:probinson]"
HP:0005775,Multiple skeletal anomalies
HP:0005776,Carpal bone malsegmentation
HP:0005780,"""Absence of the distal interphalangeal flexion creases of the fourth finger."" [HPO:probinson]"
HP:0005781,Contractures of the large joints
HP:0005787,"""A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine."" [HPO:probinson]"
HP:0005788,Abnormal cervical myelogram
HP:0005789,"""An abnormal increase of bone mineral density with generalized involvement of the skeleton."" [HPO:probinson]"
HP:0005790,Short mandibular condyles
HP:0005791,"""Abnormal thickening of the cortex of the diaphyseal region of long bones."" [HPO:curators]"
HP:0005792,"""Underdevelopment of the humerus."" [HPO:probinson]"
HP:0005793,"""Abnormally short distal phalanx of toe of all toes."" [HPO:probinson]"
HP:0005798,"""A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction."" [HPO:probinson]"
HP:0005802,Coalescence of tarsal bones
HP:0005807,"""Aplasia (absence) of the distal phalanges."" [HPO:curators]"
HP:0005815,"""The presence of more than 12 rib pairs."" [HPO:probinson]"
HP:0005817,"""Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe)."" [HPO:probinson]"
HP:0005819,"""Short (hypoplastic) middle phalanx of finger, affecting one or more fingers."" [HPO:probinson]"
HP:0005820,Superior rib anomalies
HP:0005824,"""Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe)."" [HPO:probinson]"
HP:0005825,Mixed sclerosis of humeral metaphyses
HP:0005828,Transient pulmonary infiltrates
HP:0005829,Maldevelopment of radioulnar joint
HP:0005830,"""One or more bent (flexed) toe joints that cannot be straightened actively or passively."" [HPO:probinson]"
HP:0005831,Type B brachydactyly
HP:0005832,"""A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones."" [HPO:probinson]"
HP:0005841,Calcific stippling of infantile cartilaginous skeleton
HP:0005844,"""An abnormally round shape of the middle phalanx of the finger."" [HPO:probinson]"
HP:0005849,"""Generalized deposition of calcium salts within the brain."" [HPO:probinson]"
HP:0005850,Congenital talipes calcaneovalgus
HP:0005852,Limited elbow extension and supination
HP:0005853,Congenital foot contraction deformities
HP:0005855,"""The presence of bone fractures in the prenatal period that are diagnosed at birth or before."" [HPO:curators]"
HP:0005856,"""A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction."" [HPO:probinson]"
HP:0005857,Cervical spina bifida
HP:0005863,"""In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals."" [HPO:probinson]"
HP:0005864,"""A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \""false joint\"")."" [HPO:probinson]"
HP:0005866,"""A form of triphalangeal thumb that can be placed opposite the fingers of the same hand."" [HPO:probinson]"
HP:0005867,4-5 metacarpal synostosis
HP:0005868,"""An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins."" [HPO:probinson, PMID:20661403]"
HP:0005871,"""An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae."" [HPO:probinson, PMID:335375]"
HP:0005872,"""Disproportionately short middle and distal phalanges compared to the hand/foot."" [HPO:probinson]"
HP:0005873,"""Combined syndactyly and polydactyly of the great toe."" [HPO:probinson]"
HP:0005875,Increased dermatoglyphic whorls
HP:0005876,"""Progressively worsening joint contractures."" [HPO:probinson]"
HP:0005877,Multiple small vertebral fractures
HP:0005878,Enlarged sagittal diameter of the cervical canal
HP:0005879,"""Multiple bent (flexed) finger joints that cannot be straightened actively or passively."" [HPO:probinson]"
HP:0005880,"""Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint."" [HPO:probinson]"
HP:0005881,Spinal instability
HP:0005882,Dermatoglyphic variants
HP:0005885,"""A lack of bone mineralization of one or more body of cervical vertebra."" [HPO:probinson]"
HP:0005886,"""Absence of a digit or of one or more phalanges of a finger."" [HPO:probinson]"
HP:0005890,"""Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull."" [HPO:probinson]"
HP:0005891,"""Progressive bending or abnormal curvature of the forearm skeleton."" [HPO:probinson]"
HP:0005892,Proximal tibial and fibular fusion
HP:0005894,"""Duplication of the metacarpal I bones."" [HPO:curators]"
HP:0005895,Radial deviation of thumb terminal phalanx
HP:0005897,"""Severe degree of osteoporosis."" [HPO:curators]"
HP:0005900,"""Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger)."" [HPO:probinson]"
HP:0005905,"""The presence of an abnormal curvature of the cervical vertebral column."" [HPO:probinson]"
HP:0005906,"""An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms."" [HPO:probinson]"
HP:0005910,"""Rhomboid or triangular shaped 5th (little) finger middle phalanx."" [HPO:curators]"
HP:0005912,"""Atresia of the biliary tree."" [HPO:probinson]"
HP:0005913,Abnormal metacarpal epiphysis morphology
HP:0005914,"""Aplasia or Hypoplasia affecting the metacarpal bones."" [HPO:curators]"
HP:0005916,"""Irregularly shaped metacarpal bones of varying degree."" [HPO:curators]"
HP:0005917,"""The presence of more than the normal number of metacarpal bones."" [HPO:curators]"
HP:0005918,"""Abnormalities affecting the phalanx of finger."" [HPO:probinson]"
HP:0005920,"""Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)."" [HPO:curators]"
HP:0005922,"""Any structural anomaly of the hand."" [HPO:probinson]"
HP:0005923,Abnormal hand metaphysis morphology
HP:0005924,"""Any abnormality of the epiphyses of the phalanges or metacarpal bones."" [HPO:curators]"
HP:0005925,Abnormal hand diaphysis morphology
HP:0005926,"""An anomaly of the outer shell (cortex) of a hand bone."" []"
HP:0005927,"""Absence (due to failure to form) or underdevelopment of the bones of the hand."" [HPO:probinson]"
HP:0005928,Synostosis involving the fibula
HP:0005929,Synostosis involving the tibia
HP:0005930,"""An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk."" [HPO:probinson]"
HP:0005932,"""An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla."" [HPO:probinson, PMID:22528889]"
HP:0005934,Imperfect vocal cord adduction
HP:0005938,"""Abnormal arrangement of the structures of the motile cilium."" [HPO:probinson, MP:0011050]"
HP:0005939,Multiple bilateral pneumothoraces
HP:0005941,Intermittent hyperpnea at rest
HP:0005942,"""Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present."" [LMU:crapp, PMID:14338290, PMID:16728712, PMID:16738196, PMID:23728865, PMID:25657025]"
HP:0005943,Respiratory arrest
HP:0005944,"""Bilateral lack of development of the lungs."" [HPO:probinson]"
HP:0005945,"""Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress."" [HPO:probinson]"
HP:0005946,Ventilator dependence with inability to wean
HP:0005947,"""Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration."" [HPO:probinson]"
HP:0005948,"""The presence of multiple lung cysts."" [PMID:20028879]"
HP:0005949,"""Recurrent episodes of apnea occurring during infancy."" [HPO:curators]"
HP:0005950,"""A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords."" [HPO:probinson]"
HP:0005951,Progressive inspiratory stridor
HP:0005954,Pulmonary capillary hemangiomatosis
HP:0005956,"""Abnormal shortening of the larynx in the anteroposterior (front to back) axis."" [HPO:probinson]"
HP:0005957,Breathing dysregulation
HP:0005959,"""An impairment of gluconeogenesis."" [HPO:gcarletti]"
HP:0005961,"""A decreased concentration of arginine in the blood."" [HPO:gcarletti]"
HP:0005964,"""Episodes of reduced body termperature."" [HPO:probinson]"
HP:0005967,Mixed respiratory and metabolic acidosis
HP:0005968,"""Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature."" [HPO:curators]"
HP:0005972,"""Acidosis because of respiratory retention of carbon dioxide."" [HPO:probinson]"
HP:0005973,"""Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance."" [PMID:24357350]"
HP:0005974,"""Intermittent episodes of ketoacidosis."" [HPO:probinson]"
HP:0005976,Hyperkalemic metabolic acidosis
HP:0005977,Hypochloremic metabolic alkalosis
HP:0005978,"""A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia."" [HPO:probinson]"
HP:0005979,"""A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake."" []"
HP:0005982,"""A reduction in phenylalanine 4-monooxygenase level."" [HPO:probinson]"
HP:0005984,"""An elevation of alpha-feto protein in the maternal serum."" [HPO:curators]"
HP:0005986,Limitation of neck motion
HP:0005987,"""Enlargement of the thyroid gland related to multiple nodules in the thyroid gland."" [DDD:spark]"
HP:0005988,"""A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending."" [HPO:probinson]"
HP:0005989,"""Excess skin around the neck, often lying in horizontal folds."" [PMID:19125436]"
HP:0005990,"""Developmental hypoplasia of the thyroid gland."" [HPO:probinson]"
HP:0005991,"""Reduced abilty to lower the chin towards the chest by bending the neck."" []"
HP:0005994,"""Enlargement of the thyroid gland related to one or more nodules in the thyroid gland."" [HPO:probinson]"
HP:0005995,"""Reduced amount of adipose tissue in the region of the neck."" [HPO:probinson]"
HP:0005997,Neck joint contracture
HP:0005999,"""A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter."" [HPO:probinson]"
HP:0006000,"""Obstruction of the flow of urine through the ureter."" [HPO:probinson]"
HP:0006006,Hypotrophy of the small hand muscles
HP:0006008,Unilateral brachydactyly
HP:0006009,"""Increased side-to-side width of one or more phalanges of the fingers or toes."" [HPO:probinson]"
HP:0006011,"""Severely shortened metacarpal with a cuboidal appearance."" [HPO:probinson]"
HP:0006012,Widened metacarpal shaft
HP:0006014,Abnormally shaped carpal bones
HP:0006016,"""Delay in the process of formation and maturation of the epiphysis of one or more phalanx."" [HPO:probinson]"
HP:0006019,Reduced proximal interphalangeal joint space
HP:0006026,Rounded epiphyses
HP:0006028,"""Metaphyseal cupping affecting the metacarpal bones."" [HPO:curators]"
HP:0006035,Cone-shaped epiphyses of phalanges 2 to 5
HP:0006040,Long second metacarpal
HP:0006042,"""Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly."" [HPO:curators]"
HP:0006045,Short pointed phalanges
HP:0006048,"""Abnormal increase in width of the distal region of the metacarpal bones."" [HPO:curators]"
HP:0006051,Metacarpal periosteal thickening
HP:0006055,Ulnar deviated club hands
HP:0006059,"""A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones."" [HPO:curators]"
HP:0006060,Tombstone-shaped proximal phalanges
HP:0006064,Limited interphalangeal movement
HP:0006067,"""A delay in the process of formation and maturation of the epiphysis of one or more long bones."" [HPO:probinson]"
HP:0006070,"""A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement."" [HPO:probinson]"
HP:0006077,"""Absence of the proximal interphalangeal flexion creases of the fingers."" [HPO:probinson]"
HP:0006086,Thin metacarpal cortices
HP:0006088,1-5 finger complete cutaneous syndactyly
HP:0006089,Palmar hyperhidrosis
HP:0006092,"""Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna)."" [HPO:sdoelken]"
HP:0006094,Finger joint hypermobility
HP:0006095,Wide tufts of distal phalanges
HP:0006097,"""Syndactyly with fusion of fingers three and four."" [HPO:sdoelken]"
HP:0006099,"""Increased mobility of one ore more metacarpophalangeal joint."" [HPO:probinson]"
HP:0006101,"""Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \""bony\"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \""Symphalangism\""."" [HPO:curators]"
HP:0006106,Absent trapezoid bone
HP:0006107,"""Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers."" [HPO:curators]"
HP:0006108,"""Metacarpal that becomes thinner toward the distal end."" [HPO:probinson]"
HP:0006109,"""Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers)."" [HPO:probinson]"
HP:0006110,"""Short, hypoplastic middle phalanx of finger, affecting all fingers."" [HPO:probinson]"
HP:0006112,Expanded phalanges with widened medullary cavities
HP:0006114,"""The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease)."" [HPO:probinson]"
HP:0006118,"""Hypoplasia of all of the distal phalanx of finger."" [HPO:probinson]"
HP:0006119,"""Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance."" [HPO:sdoelken]"
HP:0006121,"""A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe."" [PMID:20862203]"
HP:0006127,"""Increased length of the proximal phalanx of finger."" [HPO:probinson]"
HP:0006129,"""Rounding and broadening of the tufts of the distal phalanges."" [HPO:probinson]"
HP:0006134,"""Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges)."" [HPO:probinson]"
HP:0006135,Decreased finger mobility
HP:0006136,Bilateral postaxial polydactyly
HP:0006140,"""Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth."" [HPO:probinson]"
HP:0006143,Abnormal finger flexion creases
HP:0006144,"""Congenital hypoplasia of proximal phalanx of finger or all fingers."" [HPO:probinson]"
HP:0006145,"""A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal."" [HPO:curators]"
HP:0006146,"""Increased side-to-side width of the metacarpal epiphyses."" [HPO:probinson]"
HP:0006147,Progressive fusion 2nd-5th pip joints
HP:0006149,Increased laxity of fingers
HP:0006150,"""A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke."" [HPO:curators]"
HP:0006152,"""The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases."" [HPO:sdoelken]"
HP:0006153,Disharmonious carpal bone
HP:0006155,"""Increased length of multiple or a single phalanx of finger."" [HPO:probinson]"
HP:0006156,"""Bending or curvature of a thumb towards the ulnar side (towards the ring finger)."" [HPO:probinson, PMID:10955488]"
HP:0006157,Prominent palmar flexion creases
HP:0006159,"""The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly."" [HPO:probinson]"
HP:0006160,"""Irregular morphology of one or more metacarpal bones."" [HPO:probinson]"
HP:0006161,Short metacarpals with rounded proximal ends
HP:0006162,Soft tissue swelling of interphalangeal joints
HP:0006163,Enlarged metacarpophalangeal joints
HP:0006165,Proportionate shortening of all digits
HP:0006166,Tubular metacarpal bones
HP:0006167,Prominent proximal interphalangeal joints
HP:0006169,Decreased mobility 3rd-5th fingers
HP:0006170,"""A morphological abnormality of distal phalanges such that they have the appearance of chess pawns."" [HPO:probinson]"
HP:0006172,"Flattened, squared-off epiphyses of tubular bones"
HP:0006174,"""Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone."" [HPO:probinson]"
HP:0006175,Proximal phalangeal periosteal thickening
HP:0006176,Two carpal ossification centers present at birth
HP:0006179,Pseudoepiphyses of second metacarpal
HP:0006180,Crowded carpal bones
HP:0006184,"""Poorly defined or shallow palmar creases."" [PMID:19125433]"
HP:0006185,Enlarged proximal interphalangeal joints
HP:0006189,Prominent interdigital folds
HP:0006190,Radially deviated wrists
HP:0006191,"""Excessively deep creases of the palm."" [PMID:19125433]"
HP:0006192,"""Phalanges of the fingers becoming thinner toward the distal end."" [HPO:probinson]"
HP:0006193,"""The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat."" [HPO:probinson]"
HP:0006200,Widened distal phalanges
HP:0006201,Hypermobility of distal interphalangeal joints
HP:0006202,Osteolysis of scaphoids
HP:0006203,Decreased movement range in interphalangeal joints
HP:0006205,"""Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance."" [HPO:probinson]"
HP:0006206,"""Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger."" [HPO:probinson]"
HP:0006207,Partial fusion of carpals
HP:0006208,"""Metaphyseal cupping affecting the proximal phalanges."" [HPO:curators]"
HP:0006209,Partial-complete absence of 5th phalanges
HP:0006210,Postaxial oligodactyly
HP:0006213,Thin proximal phalanges with broad epiphyses of the hand
HP:0006216,"""Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger."" [HPO:probinson]"
HP:0006217,Limited mobility of proximal interphalangeal joint
HP:0006224,"""A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms)."" [HPO:probinson, PMID:10662807]"
HP:0006226,Osteoarthritis of the first carpometacarpal joint
HP:0006228,Valgus hand deformity
HP:0006230,Unilateral oligodactyly
HP:0006232,Expanded metacarpals with widened medullary cavities
HP:0006233,Osteoarthritis of the distal interphalangeal joint
HP:0006234,"""An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones."" [HPO:sdoelken]"
HP:0006236,"""Decreased width of the metacarpal bones (that is, reduced diameter)."" [HPO:probinson]"
HP:0006237,Prominent interphalangeal joints
HP:0006239,"""Abnormal shortening of all middle phalanges of toes."" [HPO:probinson]"
HP:0006243,Phalangeal dislocation
HP:0006247,Enlarged interphalangeal joints
HP:0006248,"""An abnormal limitation of the mobility of the wrist."" [HPO:probinson]"
HP:0006251,Limited wrist extension
HP:0006252,Interphalangeal joint erosions
HP:0006253,Swelling of proximal interphalangeal joints
HP:0006254,"""An increased concentration of alpha-fetoprotein."" [HPO:gcarletti]"
HP:0006256,Abnormality of hand joint mobility
HP:0006257,Abnormality of carpal bone ossification
HP:0006261,Abnormal phalangeal joint morphology of the hand
HP:0006262,"""A small/hypoplastic or absent/aplastic 5th finger."" [HPO:sdoelken]"
HP:0006263,"""Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger."" [HPO:curators]"
HP:0006264,"""A small/hypoplastic or absent/aplastic 2nd finger."" [HPO:curators]"
HP:0006265,"""Small/hypoplastic or absent/aplastic fingers."" [HPO:curators]"
HP:0006266,"""Reduced size of the placenta."" [HPO:probinson]"
HP:0006267,"""Increased size of the placenta."" [HPO:probinson]"
HP:0006268,"""Intermittently increased size of the spleen."" [HPO:probinson]"
HP:0006270,"""Underdevelopment of the spleen."" [HPO:curators]"
HP:0006273,"""The presence of lymphangiectasis in the pancreas."" [HPO:probinson]"
HP:0006274,"""Reduced number of beta cells in the pancreatic islets of Langerhans."" [HPO:probinson]"
HP:0006276,Hyperechogenic pancreas
HP:0006277,"""Hyperplasia of the pancreas."" [HPO:probinson]"
HP:0006278,"""The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut."" [HPO:curators]"
HP:0006279,Beta-cell dysfunction
HP:0006280,"""A chronic form of pancreatitis."" [HPO:probinson]"
HP:0006282,"""A generalized form of developmental hypoplasia of the dental enamel."" [HPO:ibailleulforestier]"
HP:0006283,"""The presence of multiple embedded tooth germs which have failed to erupt."" [HPO:ibailleulforestier]"
HP:0006285,"""A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect."" [HPO:probinson, PMID:31468724]"
HP:0006286,Yellow-brown discoloration of the teeth
HP:0006288,"""Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age."" [HPO:ibailleulforestier, PMID:19125428]"
HP:0006289,"""Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor."" [HPO:ibailleulforestier]"
HP:0006290,"""The presence of discolored lateral incisors."" [HPO:ibailleulforestier]"
HP:0006291,Marked delay in eruption of permanent teeth
HP:0006292,"""An abnormality of tooth eruption."" [HPO:ibailleulforestier]"
HP:0006293,"""Agenesis of upper secondary incisor or of upper central primary incisor."" [HPO:ibailleulforestier]"
HP:0006297,"""Developmental hypoplasia of the dental enamel."" [HPO:ibailleulforestier, PMID:18499550, PMID:31468724]"
HP:0006298,"""Prolonged bleeding post dental extraction sufficient to require medical intervention."" [HPO:probinson, WWW:wouwehand]"
HP:0006302,"""Dagger-shaped calcifications in the dental pulp."" [HPO:ibailleulforestier]"
HP:0006304,Widely-spaced incisors
HP:0006308,Atrophy of alveolar ridges
HP:0006311,"""A generalized form of microdontia."" [HPO:ibailleulforestier]"
HP:0006313,"""Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia."" [HPO:ibailleulforestier]"
HP:0006315,"""A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors."" [PMID:19125428]"
HP:0006316,"""Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth."" [HPO:ibailleulforestier]"
HP:0006321,Multiple non-erupting secondary teeth
HP:0006323,"""Loss of the primary (also known as deciduous) teeth before the usual age."" [HPO:sdoelken]"
HP:0006326,Buried teeth encased in mucopolysaccharide
HP:0006329,"""Underdevelopment of the alveolar process (also known as alveolar bone)."" [HPO:probinson]"
HP:0006330,Rotated maxillary central incisors
HP:0006332,"""The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor."" [HPO:ibailleulforestier]"
HP:0006333,"""A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor."" [HPO:ibailleulforestier]"
HP:0006334,"""Developmental hypoplasia of the primary teeth."" [HPO:ibailleulforestier]"
HP:0006335,"""Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth."" [HPO:ibailleulforestier]"
HP:0006336,"""Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length."" [HPO:probinson, PMID:31468724]"
HP:0006337,"""Premature tooth eruption of the permanent dentition."" [HPO:ibailleulforestier]"
HP:0006338,"""An abnormality of the morphology of secondary premolar tooth."" [HPO:ibailleulforestier]"
HP:0006339,"""An abnormal conical morphology of the primary or permanent mandibular incisors."" [HPO:ibailleulforestier]"
HP:0006342,"""A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter"" [HPO:ibailleulforestier, PMID:31468724]"
HP:0006344,"""An abnormality of morphology of primary molar."" [HPO:ibailleulforestier]"
HP:0006346,"""An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape."" [HPO:ibailleulforestier]"
HP:0006347,"""Decreased size of the primary teeth."" [HPO:ibailleulforestier]"
HP:0006349,"""A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth."" [HPO:probinson]"
HP:0006350,"""Mineralized substance filling the entire dental pulp space."" [PMID:162890, PMID:31468724]"
HP:0006352,"""Lack of tooth eruption of the secondary dentition."" [HPO:ibailleulforestier]"
HP:0006353,"""Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth."" [HPO:ibailleulforestier]"
HP:0006355,"""Agenesis of lower secondary incisor or lower primary incisor."" [HPO:ibailleulforestier]"
HP:0006357,"""Premature loss of the permanent teeth."" [HPO:ibailleulforestier]"
HP:0006358,"""A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces."" [PMID:2212205, PMID:31468724]"
HP:0006361,Irregular femoral epiphysis
HP:0006362,Varus deformity of humeral neck
HP:0006366,Adductor longus contractures
HP:0006367,"""An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta."" [HPO:probinson]"
HP:0006368,Forearm reduction defects
HP:0006369,"""An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour."" [HPO:probinson]"
HP:0006370,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna."" [HPO:probinson]"
HP:0006371,"""Increased width of the diaphysis of long bones."" [HPO:probinson]"
HP:0006375,"""The femur is shortened and displays flaring (widening) of the metaphyses."" [HPO:probinson]"
HP:0006376,Limited elbow flexion
HP:0006378,Osteolysis of patellae
HP:0006379,Proximal tibial hypoplasia
HP:0006380,"""A bent (flexed) knee joint that cannot be straightened actively or passively."" [HPO:probinson]"
HP:0006381,"""Absent or nearly absent fibula. (Does not include aplastic)"" []"
HP:0006383,"""Progressive bending or abnormal curvature of a long bone."" [HPO:probinson]"
HP:0006384,"""An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis."" [HPO:probinson]"
HP:0006385,"""Shortening of the legs related to developmental hypoplasia of the bones of the leg."" [HPO:probinson]"
HP:0006386,"""Underdevelopment of the distal epiphysis of the radius."" [HPO:curators]"
HP:0006387,"""Increased width of the distal part of the shaft (metaphysis) of the femur."" [HPO:probinson]"
HP:0006389,"""Reduced ability to flex (bend) the knee joint."" []"
HP:0006390,"""An abnormal anterior bending or curvature of the tibia."" [HPO:probinson]"
HP:0006391,"""Overconstriction, or narrowness of the diaphysis and metaphysis of long bones."" [HPO:probinson]"
HP:0006392,"""An abnormal increase in the bone density of the long bones."" [HPO:curators]"
HP:0006394,"""A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation)."" [HPO:probinson]"
HP:0006397,Lateral displacement of patellae
HP:0006398,"""An abnormal flattening of the distal epiphysis of femur."" [HPO:sdoelken]"
HP:0006400,Absent knee epiphyses
HP:0006402,Distal shortening of limbs
HP:0006406,"""An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis."" [HPO:probinson]"
HP:0006407,"""Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular."" [HPO:probinson]"
HP:0006408,Distal tapering femur
HP:0006409,"""Progressive bending or abnormal curvature of the leg."" [HPO:probinson]"
HP:0006413,Broad tibial metaphyses
HP:0006414,"""A bending or abnormal curvature of the distal portion of the tibia."" [HPO:probinson]"
HP:0006415,"""Increased density of the compact bone of long bone."" [HPO:probinson]"
HP:0006417,Broad femoral metaphyses
HP:0006420,"""The presence of asymmetric developmental dysplasia of the radius."" [HPO:probinson]"
HP:0006423,Peg-like central prominence of distal tibial metaphyses
HP:0006424,"""Increased length of the radius."" [HPO:probinson]"
HP:0006426,Rudimentary to absent tibiae
HP:0006429,"""An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)."" [HPO:probinson]"
HP:0006431,"""An anomaly of the metaphysis of the proximal femur (close to the hip)."" [HPO:probinson]"
HP:0006432,Trapezoidal distal femoral condyles
HP:0006433,"""Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia."" [PMID:29257019]"
HP:0006434,"""Proximal radial shortening owing to a congenital defect of development."" [HPO:probinson]"
HP:0006437,Disproportionate prominence of the femoral medial condyle
HP:0006438,"""An abnormal enlargement of the distal epiphysis of the femur."" [HPO:probinson]"
HP:0006439,Radioulnar dislocation
HP:0006440,Increased density of long bone diaphyses
HP:0006441,Lateral humeral condyle aplasia
HP:0006442,"""Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee."" [PMID:880750]"
HP:0006443,"""Absence of the patella."" [HPO:probinson]"
HP:0006446,Dysplastic patella
HP:0006449,Distal radial epiphyseal osteolysis
HP:0006450,Multicentric ossification of proximal femoral epiphyses
HP:0006453,"""A developmental anomaly with lateral displacement of the femoral head."" [HPO:probinson]"
HP:0006454,"""Formation of bone in the patella later than normal."" [HPO:probinson, PMID:6729496]"
HP:0006456,"""Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular."" [HPO:probinson]"
HP:0006459,"""Partial dislocation of the ulna in the dorsal direction."" [HPO:curators]"
HP:0006460,Increased laxity of ankles
HP:0006461,"""Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt."" [HPO:probinson]"
HP:0006462,"""A generalized decrease in bone mineral density."" [HPO:curators]"
HP:0006463,Rickets of the lower limbs
HP:0006465,"""Thickening of the periosteum of long bone."" [HPO:probinson]"
HP:0006466,"""A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle."" [HPO:probinson]"
HP:0006467,"""A limitation of the range of movement of the shoulder joint."" [HPO:probinson]"
HP:0006470,"""Decreased width of the diaphysis of long bones."" [HPO:probinson]"
HP:0006471,Fixed elbow flexion
HP:0006473,"""An abnormal anterior curvature of a long bone."" [HPO:probinson]"
HP:0006476,"""An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin."" [HPO:probinson]"
HP:0006477,"""Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth."" [HPO:probinson]"
HP:0006479,"""An abnormality of the dental pulp."" [HPO:ibailleulforestier]"
HP:0006480,"""Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0006481,"""Any abnormality of the primary tooth."" [HPO:ibailleulforestier]"
HP:0006482,"""An abnormality of the morphology of the tooth."" [HPO:ibailleulforestier]"
HP:0006483,"""The presence of an altered number of of teeth."" [HPO:ibailleulforestier]"
HP:0006485,"""Agenesis of incisor."" [HPO:probinson]"
HP:0006486,"""An abnormality of the dental root."" [HPO:ibailleulforestier]"
HP:0006487,"""A bending or abnormal curvature of a long bone."" [HPO:probinson]"
HP:0006488,"""A bending or abnormal curvature affecting a long bone of the arm."" [HPO:probinson]"
HP:0006489,"""An anomaly of the femoral metaphysis."" [HPO:probinson]"
HP:0006490,Abnormal lower-limb metaphysis morphology
HP:0006491,Abnormal tibial metaphysis morphology
HP:0006492,"""Absence or underdevelopment of the fibula."" [HPO:curators]"
HP:0006493,"""Absence (due to failure to form) or underdevelopment of the bones of the lower limbs."" [HPO:probinson]"
HP:0006494,Aplasia/Hypoplasia involving bones of the feet
HP:0006495,"""Absence or underdevelopment of the ulna."" [HPO:curators]"
HP:0006496,"""Absence (due to failure to form) or underdevelopment of the bones of the upper limbs."" [HPO:probinson]"
HP:0006498,"""Absence or underdevelopment of the patella."" [HPO:curators]"
HP:0006499,"""An anomaly of a growth plate of a femur."" [HPO:probinson]"
HP:0006500,"""An anomaly of one or more epiphyses of one or both legs."" []"
HP:0006501,"""A small/hypoplastic or absent/aplastic radius."" [HPO:probinson]"
HP:0006502,"""Absence or underdevelopment of the carpal bones."" [HPO:curators]"
HP:0006503,"""Absence (due to failure to form) or underdevelopment of one or more forearm bones."" [HPO:probinson]"
HP:0006505,"""An anomaly of one or more epiphyses of a limb."" []"
HP:0006507,"""Absence (due to failure to form) or underdevelopment of the humerus."" [HPO:probinson]"
HP:0006508,Abnormality of tibial epiphyses
HP:0006509,"""Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical)."" [PMID:18544671, PMID:27867581]"
HP:0006510,"""An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities."" [PMID:25943942]"
HP:0006511,"""An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat."" [HPO:probinson]"
HP:0006514,Intraalveolar nodular calcifications
HP:0006515,Interstitial pneumonitis
HP:0006516,"""Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010)."" [LMU:mgriese, PMID:15316440, PMID:16635083, PMID:18051218]"
HP:0006517,"""Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis."" [HPO:probinson, PMID:21900000, PMID:22891182]"
HP:0006518,"""Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition."" [HPO:probinson, NIHR:ldaugherty, PMID:20456932, PMID:27009171]"
HP:0006519,"""Adenocarcinoma of the Bronchus."" [HPO:probinson]"
HP:0006520,Progressive pulmonary function impairment
HP:0006521,"""Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid."" [HPO:probinson]"
HP:0006522,Repeated pneumothoraces
HP:0006524,Tracheobronchial leiomyomatosis
HP:0006527,"""Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa."" [HPO:probinson, PMID:32040879]"
HP:0006528,"""According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities."" [IMM:tkuijpers]"
HP:0006529,"""An abnormality of the pulmonary lymphatic chain."" [HPO:probinson]"
HP:0006530,"""Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis."" [HPO:probinson]"
HP:0006531,Pleural lymphangiectasia
HP:0006532,"""An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia."" [HPO:probinson, PMID:15750465]"
HP:0006533,Bronchodysplasia
HP:0006535,"""A recurrent hemorrhage occurring within the lung."" [HPO:gcarletti]"
HP:0006536,"""Obstruction of conducting airways of the lung."" [HPO:probinson]"
HP:0006538,"""An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections."" [HPO:probinson]"
HP:0006539,Bronchial cartilage hypoplasia
HP:0006543,Cardiorespiratory arrest
HP:0006544,"""A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree."" [HPO:probinson]"
HP:0006548,"""Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins."" [PMID:30386957, PMID:788535]"
HP:0006549,Unilateral primary pulmonary dysgenesis
HP:0006552,Fibrocystic lung disease
HP:0006554,"""Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver."" [HPO:curators]"
HP:0006555,"""A diffuse form of hepatic steatosis."" [HPO:probinson]"
HP:0006557,Polycystic liver disease
HP:0006558,"""Decreased activity of complex III of the mitochondrion in the liver."" [HPO:probinson]"
HP:0006559,"""The presence of abnormal calcium deposition in the liver."" [HPO:probinson]"
HP:0006560,"""Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia."" [HPO:probinson]"
HP:0006561,Lipid accumulation in hepatocytes
HP:0006562,"""Inflammation of the liver due to infection with a virus."" [HPO:probinson]"
HP:0006563,Malformation of the hepatic ductal plate
HP:0006564,"""Intermittently increased size of the liver."" [HPO:probinson]"
HP:0006565,"""An abnormal increase in the amount of intracellular lipid droplets in hepatocytes."" [HPO:probinson]"
HP:0006566,Neonatal cholestatic liver disease
HP:0006568,"""An increase in the amount of glycogen stored in hepatocytes compared to normal."" [HPO:probinson]"
HP:0006571,"""The presence of reduced numbers of intrahepatic bile duct than normal."" [HPO:probinson]"
HP:0006572,Subacute progressive viral hepatitis
HP:0006573,"""An acute form of hepatic steatosis."" [HPO:probinson]"
HP:0006574,Hepatic arteriovenous malformation
HP:0006575,Intrahepatic cholestasis with episodic jaundice
HP:0006576,Hepatic vascular malformations
HP:0006577,"""A type of cirrhosis characterized by the presence of large regenerative nodules."" [HPO:probinson]"
HP:0006579,"""Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants."" [HPO:probinson]"
HP:0006580,"""Fibroblast proliferation and fiber expansion from the portal areas to the lobule."" [HPO:probinson]"
HP:0006581,"""An abnormal reduction in the number of mitochondria in hepatocytes."" [HPO:probinson]"
HP:0006582,"""Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure."" []"
HP:0006583,Fatal liver failure in infancy
HP:0006584,Small abnormally formed scapulae
HP:0006585,"""The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle."" [HPO:probinson, PMID:22295044]"
HP:0006587,"""An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved ."" [HPO:probinson]"
HP:0006589,Flaring of lower rib cage
HP:0006590,"""Prematurely closed sternal sutures."" [HPO:probinson, PMID:13542801]"
HP:0006591,"""Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus."" [HPO:probinson]"
HP:0006593,Anomalous rib insertion to vertebrae
HP:0006595,"""Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint."" [HPO:probinson]"
HP:0006596,Restricted chest movement
HP:0006597,"""The presence of a paralyzed diaphragm."" [HPO:probinson, PMID:3612666]"
HP:0006598,Irregular ossification at anterior rib ends
HP:0006599,Medial widening of clavicles
HP:0006600,Progressive calcification of costochondral cartilage
HP:0006603,"Flared, irregular rib ends"
HP:0006606,"""Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum."" [HPO:probinson]"
HP:0006607,"""Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage."" [HPO:probinson, PMID:10489169]"
HP:0006608,"""Underdevelopment of the middle portion of the clavicle."" [HPO:probinson]"
HP:0006610,"""A larger than usual distance between the left and right nipple."" [HPO:probinson]"
HP:0006611,"""A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms."" [HPO:probinson, PMID:10204210]"
HP:0006615,"""Lack of formation and mineralization of the ribs in utero."" [HPO:probinson]"
HP:0006619,"""Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs."" [HPO:probinson]"
HP:0006623,"""Abnormal increase in density of the tissue at the costochondral junctions."" [HPO:probinson]"
HP:0006625,"""Breast carcinoma that is bilateral or otherwise multifocal."" [HPO:probinson]"
HP:0006628,"""Lack of formation of mineralized bony tissue of the sternum."" [HPO:probinson]"
HP:0006631,Hypoplastic distal segments of scapulae
HP:0006633,"""Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus."" [HPO:probinson]"
HP:0006634,"""Osteosclerosis of ribs (increased density related to increased bone mass)."" [HPO:probinson]"
HP:0006637,Sternal punctate calcifications
HP:0006638,"""Developmental defect resulting in congenital absence of the middle portion of the clavicle."" [HPO:probinson]"
HP:0006640,"""More than one fracture of the ribs."" [HPO:probinson]"
HP:0006641,Prominent floating ribs
HP:0006642,Large sternal ossification centers
HP:0006643,Fused sternal ossification centers
HP:0006644,Thoracic dysplasia
HP:0006645,"""Abnormally reduced diameter (cross section) of the clavicles."" [HPO:probinson]"
HP:0006646,"""Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax."" [HPO:probinson]"
HP:0006647,Congenital microthorax
HP:0006649,"""Chest wall pain in the area of the costochondral junctions."" [HPO:probinson]"
HP:0006650,Thickening of the lateral border of the scapula
HP:0006655,Rib segmentation abnormalities
HP:0006657,Hypoplasia of first ribs
HP:0006659,Internally rotated shoulders
HP:0006660,"""Absence of the clavicles as a developmental defect."" [HPO:probinson]"
HP:0006665,"""An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger)."" [HPO:probinson, PMID:12712270, PMID:21607596]"
HP:0006668,Twelfth rib hypoplasia
HP:0006670,Impaired myocardial contractility
HP:0006671,Paroxysmal atrial tachycardia
HP:0006673,Reduced systolic function
HP:0006677,"""Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec."" [HPO:probinson]"
HP:0006679,"""Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells."" [HPO:probinson, PMID:937513]"
HP:0006681,Absent atrioventricular node
HP:0006682,"""Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node."" [HPO:probinson, PMID:30422584, PMID:32063472, PMID:32528299]"
HP:0006683,"""An abnormality of filling of a ventricle with blood during diastole."" [HPO:probinson]"
HP:0006684,"""A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction."" [HPO:probinson]"
HP:0006685,"""The presence of excessive connective tissue in the endocardium."" [HPO:probinson, PMID:29043203]"
HP:0006687,"""Abnormal tortuous (i.e., twisted) form of the aorta."" [HPO:probinson]"
HP:0006688,Paroxysmal tachycardia
HP:0006689,"""A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves."" [HPO:sdoelken]"
HP:0006690,"""Calcium deposition in the myocardium."" [HPO:probinson]"
HP:0006691,Pulmonic valve myxoma
HP:0006692,"""Abnormally short chordae tendineae of the tricuspid valve."" [HPO:probinson]"
HP:0006693,"""Steatosis in the myocardium."" [HPO:probinson]"
HP:0006694,Early progressive calcific cardiac valvular disease
HP:0006695,"""A defect of the atrioventricular septum of the heart."" [HPO:probinson, PMID:12632326]"
HP:0006696,Polymorphic and polytopic ventricular extrasystoles
HP:0006698,"""A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole."" [HPO:probinson]"
HP:0006699,"""A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites."" []"
HP:0006702,"""Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery."" [HPO:probinson, PMID:20448134]"
HP:0006703,Aplasia/Hypoplasia of the lungs
HP:0006704,"""Any structural abnormality of the coronary arteries."" [HPO:probinson]"
HP:0006705,"""An abnormality of an atrioventricular valve."" [HPO:probinson]"
HP:0006706,Cystic liver disease
HP:0006707,"""An abnormality of the hepatic vasculature."" [HPO:probinson]"
HP:0006709,Aplasia/Hypoplasia of the nipples
HP:0006710,"""Absence or underdevelopment of the clavicles (collar bones)."" [HPO:curators]"
HP:0006711,Aplasia/Hypoplasia involving bones of the thorax
HP:0006712,Aplasia/Hypoplasia of the ribs
HP:0006713,Aplasia/Hypoplasia of the scapulae
HP:0006714,Aplasia/Hypoplasia of the sternum
HP:0006715,Glomus tympanicum paraganglioma
HP:0006716,Hereditary nonpolyposis colorectal carcinoma
HP:0006717,Peripheral neuroepithelioma
HP:0006719,Benign gastrointestinal tract tumors
HP:0006721,"""A form of acute leukemia characterized by excess lympoblasts."" [HPO:probinson]"
HP:0006722,Small intestine carcinoid
HP:0006723,Intestinal carcinoid
HP:0006725,"""The presence of an adenocarcinoma of the pancreas."" [HPO:probinson]"
HP:0006727,"""Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females."" [NCIT:C3183]"
HP:0006729,Retroperitoneal chemodectomas
HP:0006731,"""The presence of an follicular adenocarcinoma of the thyroid gland."" [HPO:probinson]"
HP:0006732,"""A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification."" [DDD:rscott, PMID:12429790]"
HP:0006733,"""A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts."" []"
HP:0006735,"""The presence of an adenoma in the cortex of the kidney."" [HPO:probinson]"
HP:0006737,"""Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia."" [HPO:probinson]"
HP:0006739,"""Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium."" [HPO:curators]"
HP:0006740,"""The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell."" [HPO:probinson]"
HP:0006742,Congenital neuroblastoma
HP:0006743,Embryonal rhabdomyosarcoma
HP:0006744,"""A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone."" [HPO:probinson]"
HP:0006747,Ganglioneuroblastoma
HP:0006748,"""Pheochromocytoma originating from the adrenal medulla."" [HPO:curators]"
HP:0006749,Malignant gastrointestinal tract tumors
HP:0006751,Paraspinal neurofibromas
HP:0006753,"""A tumor (abnormal growth of tissue) of the stomach."" [HPO:probinson]"
HP:0006755,"""The presence of leiomyosarcoma of the skin."" [HPO:probinson]"
HP:0006756,Diffuse leiomyomatosis
HP:0006758,"""The presence of a malignant neoplasm of the genital system."" [HPO:probinson]"
HP:0006762,"""The presence of a carcinoma in the renal pelvis."" [HPO:probinson]"
HP:0006763,Anal canal squamous carcinoma
HP:0006765,"""A slowly growing malignant neoplasm derived from cartilage cells."" [HPO:probinson]"
HP:0006766,"""The presence of renal cell carcinoma in the renal papilla."" [HPO:probinson]"
HP:0006767,"""A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women."" [DDD:spark]"
HP:0006768,Localized neuroblastoma
HP:0006769,Myxoid subcutaneous tumors
HP:0006770,"""A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron."" [DDD:rscott]"
HP:0006771,"""A malignant epithelial tumor with a glandular organization that originates in the duodenum."" [HPO:probinson]"
HP:0006772,"""A benign renal neoplasm composed of fat, vascular, and smooth muscle elements."" [HPO:probinson]"
HP:0006773,Cutaneous angiolipomas
HP:0006774,"""The presence of a papillary adenocarcinoma of the ovary."" [HPO:probinson]"
HP:0006775,"""A malignant plasma cell tumor growing within soft tissue or within the skeleton."" [HPO:sdoelken]"
HP:0006778,"""A non-malignant neoplasm of the genitourinary system."" [HPO:probinson]"
HP:0006779,Alveolar rhabdomyosarcoma
HP:0006780,"""A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism."" [HPO:probinson]"
HP:0006781,"""A kind of thyroid adenoma characterized by the presence of oxyphil cells."" [HPO:probinson]"
HP:0006782,Malignant eosinophil proliferation
HP:0006783,Posterior pharyngeal cleft
HP:0006784,"""Underdevelopment of the paranasal sinuses."" [HPO:probinson]"
HP:0006785,"""Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)."" [HPO:curators]"
HP:0006789,Mitochondrial encephalopathy
HP:0006790,Cerebral cortex with spongiform changes
HP:0006794,Loss of ability to walk in first decade
HP:0006799,Basal ganglia cysts
HP:0006801,Hyperactive deep tendon reflexes
HP:0006802,"""Any anomaly of the anterior horn cell."" [HPO:probinson]"
HP:0006803,Vivid hallucinations
HP:0006808,"""Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system."" [HPO:probinson]"
HP:0006812,White mater abnormalities in the posterior periventricular region
HP:0006813,"""A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset."" []"
HP:0006817,"""Absence or underdevelopment of the vermis of cerebellum."" [HPO:curators]"
HP:0006818,"""A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm."" [COST:neuromig, HPO:probinson, PMID:28440899]"
HP:0006821,"""A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum."" [COST:neuromig, PMID:20301504]"
HP:0006824,Cranial nerve paralysis
HP:0006825,"""An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination."" []"
HP:0006827,Atrophy of the spinal cord
HP:0006829,"""A severe degree of muscular hypotonia characterized by markedly reduced muscle tone."" [HPO:curators]"
HP:0006834,"""A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy."" [HPO:probinson]"
HP:0006837,"""A type of Horner syndrome with congenital onset."" [HPO:probinson]"
HP:0006844,"""Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella."" [HPO:probinson]"
HP:0006846,Acute encephalopathy
HP:0006849,"""Developmental defect characterized by a small and malformed corpus callosum."" []"
HP:0006850,"""Underdevelopment of the ventral portion of the pons."" [HPO:probinson]"
HP:0006851,"""Multiple neurofibromas of the spinal nerve roots with a symmetric distribution."" [HPO:probinson]"
HP:0006852,"""The occurrence of repeated episodes of generalized muscular hypotonia."" [HPO:curators]"
HP:0006855,"""Wasting (atrophy) of the vermis of cerebellum."" [HPO:probinson]"
HP:0006858,"""A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints."" [HPO:probinson]"
HP:0006859,Posterior leukoencephalopathy
HP:0006863,"""A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts."" [DDD:hvfirth]"
HP:0006865,Sensorimotor polyneuropathy affecting arms more than legs
HP:0006866,Midline central nervous system lipomas
HP:0006870,"""A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally."" [gc:hpe]"
HP:0006872,"""Underdevelopment of the cerebrum."" [HPO:probinson]"
HP:0006873,"""A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system."" [HPO:probinson]"
HP:0006879,"""Atrophy affecting the pons and the cerebellum."" [HPO:probinson]"
HP:0006880,"""A hemangioblastoma of the cerebellum."" [HPO:probinson]"
HP:0006881,"""A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system."" [HPO:probinson]"
HP:0006882,Severe hydrocephalus
HP:0006886,"""A decrease in the ability to perceive vibration in the distal portions of the limbs."" [HPO:probinson]"
HP:0006887,"""The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time."" [HPO:probinson]"
HP:0006888,Meningoencephalocele
HP:0006889,"""Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85."" [HPO:probinson, PMID:20537050]"
HP:0006891,Thick cerebral cortex
HP:0006892,"""Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum."" [HPO:probinson]"
HP:0006894,Hypoplastic olfactory lobes
HP:0006895,Lower limb hypertonia
HP:0006896,"""Fleeting perceptual experiences that occur during the transition from sleep to wakefulness."" [PMID:27358492]"
HP:0006897,"""Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia."" [PMID:29489275]"
HP:0006899,Fusion of the cerebellar hemispheres
HP:0006903,Congenital peripheral neuropathy
HP:0006904,Late-onset spinocerebellar degeneration
HP:0006906,"""The presence of calcium deposition within brain structures that is present already at the time of birth."" [HPO:probinson]"
HP:0006913,"""Atrophy of the frontal cortex."" [HPO:probinson]"
HP:0006915,Inability to walk by childhood/adolescence
HP:0006916,"""Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons."" [HPO:probinson]"
HP:0006918,Diffuse cerebral sclerosis
HP:0006919,"Abnormal aggressive, impulsive or violent behavior"
HP:0006921,"""Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature."" [HPO:probinson]"
HP:0006926,Metachromatic leukodystrophy variant
HP:0006927,"""Excessive number of small gyri (convolutions) on the surface of one side of the brain."" [HPO:probinson]"
HP:0006929,"""Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage."" [HPO:probinson]"
HP:0006930,"""The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe."" [HPO:probinson]"
HP:0006931,"""Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain."" [ORCID:0000-0002-3302-4610, PMID:30104143]"
HP:0006932,Transient psychotic episodes
HP:0006934,"""Nystagmus dating from or present at birth."" [HPO:curators]"
HP:0006937,"""A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus."" [HPO:probinson]"
HP:0006938,"""A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles."" [HPO:probinson]"
HP:0006943,Diffuse spongiform leukoencephalopathy
HP:0006944,"""A complete loss of the ability to perceive vibration."" [HPO:curators]"
HP:0006946,"""An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis."" [HPO:probinson]"
HP:0006949,Episodic peripheral neuropathy
HP:0006951,Retrocerebellar cyst
HP:0006955,"""Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus."" [HPO:probinson]"
HP:0006956,Lateral ventricle dilatation
HP:0006958,"""An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex."" [HPO:probinson]"
HP:0006959,"""Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem."" [HPO:curators]"
HP:0006960,"""The presence of calcium deposition in the choroid plexus."" [HPO:probinson]"
HP:0006961,Jerky head movements
HP:0006962,"Gait instability, worse in the dark"
HP:0006964,Cerebral cortical neurodegeneration
HP:0006965,Acute necrotizing encephalopathy
HP:0006970,"""Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia."" [PMID:16808630, PMID:18852342, PMID:28406931]"
HP:0006976,"""A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue."" [KI:phemming, PMID:23705127]"
HP:0006977,Grammar-specific speech disorder
HP:0006978,Dysmyelinating leukodystrophy
HP:0006979,"""Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake."" []"
HP:0006980,"""Leukoencephalopathy that gets more severe with time."" [HPO:probinson]"
HP:0006986,Upper limb spasticity
HP:0006988,"""A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged."" [gc:hpe]"
HP:0006989,"""Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium."" [HPO:probinson, PMID:21263138]"
HP:0006990,"""A type of gliosis that occurs in the vicinity of injured neurons."" [HPO:probinson]"
HP:0006992,Anterior basal encephalocele
HP:0006994,Diffuse leukoencephalopathy
HP:0006999,"""Focal proliferation of glial cells in the basal ganglia."" [HPO:probinson]"
HP:0007000,Morning myoclonic jerks
HP:0007001,Loss of Purkinje cells in the cerebellar vermis
HP:0007002,"""Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg."" [HPO:probinson]"
HP:0007006,Dorsal column degeneration
HP:0007007,"""The formation of small cavities in the tissue of the basal ganglia."" [HPO:probinson, PMID:8516046]"
HP:0007009,Central nervous system degeneration
HP:0007010,"""An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes."" []"
HP:0007011,"""Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly."" [ORCID:0000-0001-5208-3432]"
HP:0007015,"""An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts."" []"
HP:0007016,Corticospinal tract hypoplasia
HP:0007017,Progressive forgetfulness
HP:0007018,"""Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient."" [HPO:curators]"
HP:0007020,Progressive spastic paraplegia
HP:0007021,"""Inability to perceive painful stimuli."" [HPO:probinson]"
HP:0007023,"""Cerebral hemorrhage that occurs before birth."" [HPO:probinson]"
HP:0007024,"""Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing."" [HPO:sdoelken]"
HP:0007027,"""A morphological abnormality of the metencephalon."" [HPO:probinson]"
HP:0007029,"""A small, sac-like aneurysm (outpouching) of a cerebral blood vessel."" [HPO:probinson]"
HP:0007030,Nonprogressive encephalopathy
HP:0007033,"""Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts."" [HPO:probinson, PMID:25105227, PMID:27160001]"
HP:0007034,Generalized hyperreflexia
HP:0007035,Anterior encephalocele
HP:0007036,Hypoplasia of olfactory tract
HP:0007039,Symmetric lesions of the basal ganglia
HP:0007041,"""Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF)."" [PMID:27608867]"
HP:0007042,Focal white matter lesions
HP:0007045,Midline brain calcifications
HP:0007047,"""Partial or complete wasting (loss) of dentate nucleus."" [HPO:probinson]"
HP:0007048,"""Increased size of the basal ganglia."" [HPO:probinson]"
HP:0007052,Multifocal cerebral white matter abnormalities
HP:0007054,"""Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee)."" []"
HP:0007057,Poor hand-eye coordination
HP:0007058,"""Generalized atrophy or hypoplasia of the cerebrum."" [HPO:sdoelken]"
HP:0007063,Aplasia of the inferior half of the cerebellar vermis
HP:0007064,"""Progressive loss of previously present language abilities."" [HPO:probinson]"
HP:0007065,Disorganization of the anterior cerebellar vermis
HP:0007066,"""Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle."" [https://orcid.org/0000-0001-5208-3432]"
HP:0007067,"""Peripheral sensory neuropathy affecting primarily distal sensation."" [HPO:probinson]"
HP:0007068,"""Underdevelopment of the inferior portion of the vermis of cerebellum."" [HPO:probinson, PMID:16580298]"
HP:0007069,Profound static encephalopathy
HP:0007074,"""Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain."" [KI:phemming, PMID:10029348]"
HP:0007076,"""Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)."" [HPO:probinson]"
HP:0007078,"""A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies."" [HPO:probinson]"
HP:0007081,Late-onset muscular dystrophy
HP:0007082,"""An increase in size of the third ventricle."" [HPO:probinson]"
HP:0007083,Hyperactive patellar reflex
HP:0007086,Social and occupational deterioration
HP:0007089,"""Fasciculations affecting the tongue muscle and the musculature of the face."" [HPO:probinson]"
HP:0007096,Hypoplasia of the optic tract
HP:0007097,Cranial nerve motor loss
HP:0007098,"""Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements."" [HPO:probinson]"
HP:0007099,"""Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)"" [HPO:curators, PMID:28613730]"
HP:0007100,Progressive ventriculomegaly
HP:0007103,"""A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter."" [HPO:probinson]"
HP:0007104,Prolonged somatosensory evoked potentials
HP:0007105,"""Encephalopathy with onset in the infantile period."" [HPO:probinson]"
HP:0007107,"""A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system."" [HPO:probinson]"
HP:0007108,"""Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies."" [HPO:probinson]"
HP:0007109,Periventricular cysts
HP:0007110,Central hypoventilation
HP:0007111,Chronic hepatic encephalopathy
HP:0007112,"""Atrophy of the temporal cortex."" [HPO:probinson]"
HP:0007115,Orbital encephalocele
HP:0007117,Corticospinal tract atrophy
HP:0007123,"""A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change."" [HPO:probinson, PMID:4819905]"
HP:0007126,"""Amyotrophy (muscular atrophy) affecting the proximal musculature."" [HPO:probinson]"
HP:0007129,Cerebellar medulloblastoma
HP:0007131,"""Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration."" [HPO:probinson]"
HP:0007132,"""Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement."" [HPO:probinson]"
HP:0007133,Progressive peripheral neuropathy
HP:0007141,Sensorimotor neuropathy
HP:0007146,Bilateral basal ganglia lesions
HP:0007149,"""Muscular atrophy of distal arm muscles."" [HPO:probinson]"
HP:0007153,Progressive extrapyramidal movement disorder
HP:0007156,"""Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern."" [HPO:probinson]"
HP:0007158,"""A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)."" [HPO:probinson]"
HP:0007159,Fluctuations in consciousness
HP:0007162,"""A diffuse loss of myelin from nerve fibers in the central nervous system."" [HPO:probinson]"
HP:0007164,Slowed slurred speech
HP:0007165,"""A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass."" [HPO:probinson, PMID:22427329]"
HP:0007166,"""Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks."" [HPO:probinson]"
HP:0007178,Motor polyneuropathy
HP:0007179,"""A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion."" [HPO:probinson]"
HP:0007181,"""Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones."" [HPO:curators]"
HP:0007182,"""Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system."" [HPO:probinson]"
HP:0007183,"""A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia."" [HPO:probinson]"
HP:0007185,Loss of consciousness
HP:0007187,"""A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex."" [KI:phemming]"
HP:0007188,"""Facial diplegia (that is, bilateral facial palsy) with congenital onset."" [HPO:curators]"
HP:0007190,Neuronal loss in the cerebral cortex
HP:0007193,"""Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day)."" [HPO:probinson, PMID:24395517, PMID:26948972]"
HP:0007199,Progressive spastic paraparesis
HP:0007200,Episodic hypersomnia
HP:0007201,"""Atherosclerosis (HP:0002621) of a cerebral artery."" [HPO:probinson]"
HP:0007204,Diffuse white matter abnormalities
HP:0007206,"""Enlargement of all or parts of one cerebral hemisphere."" [HPO:probinson, PMID:17416820]"
HP:0007207,"""Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light."" [HPO:probinson, PMID:28276060]"
HP:0007208,"""Presence of irregular redundant loops of focally folded myelin in a peripheral nerve."" [PMID:20301641, PMID:8817346]"
HP:0007209,"""Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve)."" [HPO:probinson]"
HP:0007210,"""Muscular atrophy affecting the lower limb."" [HPO:probinson]"
HP:0007215,"""Episodes of muscle weakness associated with elevated levels of potassium in the blood."" [HPO:probinson]"
HP:0007220,"""Demyelination of peripheral motor nerves."" [HPO:probinson]"
HP:0007221,Progressive truncal ataxia
HP:0007227,"""Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum."" [HPO:probinson]"
HP:0007229,"""The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles."" [HPO:probinson]"
HP:0007230,"""A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies."" [HPO:probinson]"
HP:0007232,Spinocerebellar tract disease in lower limbs
HP:0007233,"""Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration."" [HPO:jbaets]"
HP:0007236,Recurrent subcortical infarcts
HP:0007238,Nonarteriosclerotic cerebral calcification
HP:0007239,Congenital encephalopathy
HP:0007240,"""A type of gait ataxia displaying progression of clinical severity."" [HPO:probinson]"
HP:0007249,Decreased number of small peripheral myelinated nerve fibers
HP:0007250,"""Alternating and recurrent weakness of the external ocular muscles."" [HPO:probinson]"
HP:0007256,"""Functional neurological abnormalities related to dysfunction of the pyramidal tract."" [HPO:probinson]"
HP:0007258,"""A severe loss of myelin from nerve fibers in the central nervous system."" [HPO:probinson]"
HP:0007260,"""A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers."" [HPO:probinson]"
HP:0007262,"""A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system."" [HPO:probinson]"
HP:0007263,"""Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord."" [HPO:probinson]"
HP:0007265,"""Agenesis of the midbrain."" [KI:phemming]"
HP:0007266,"""Defective structure and function of myelin sheaths of the white matter of the brain."" [HPO:probinson]"
HP:0007267,"""An abnormality characterized by chronic impairment of the normal functioning of the axons."" [HPO:probinson]"
HP:0007268,Aprosencephaly
HP:0007269,"""Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem."" [HPO:probinson]"
HP:0007270,"""An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity."" [HPO:probinson, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275]"
HP:0007271,Occipital myelomeningocele
HP:0007272,Progressive psychomotor deterioration
HP:0007274,"""An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis."" [HPO:probinson]"
HP:0007277,Paucity of anterior horn motor neurons
HP:0007280,Acute infantile spinal muscular atrophy
HP:0007281,"""A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills."" [HPO:probinson]"
HP:0007285,"""Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve."" [HPO:probinson]"
HP:0007286,"""Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other."" [HPO:probinson]"
HP:0007289,"""Fasciculations affecting the musculature of the arms and legs."" [HPO:curators]"
HP:0007291,"""A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle."" [HPO:probinson, PMID:2816648]"
HP:0007293,Anterior sacral meningocele
HP:0007295,Chaotic rapid conjugate ocular movements
HP:0007299,Dysfunction of lateral corticospinal tracts
HP:0007301,"""Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control."" [PMID:26275812]"
HP:0007302,Bipolar affective disorder
HP:0007305,"""A loss of myelin from nerve fibers in the central nervous system."" [HPO:probinson]"
HP:0007307,Rapid neurologic deterioration
HP:0007308,Extrapyramidal dyskinesia
HP:0007311,Short stepped shuffling gait
HP:0007313,Cerebral degeneration
HP:0007321,"""Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter."" [HPO:probinson, PMID:16239634]"
HP:0007325,"""A type of dystonia that affects all or most of the body."" [HPO:probinson]"
HP:0007326,Progressive choreoathetosis
HP:0007327,Mixed demyelinating and axonal polyneuropathy
HP:0007328,"""Reduced ability to perceive painful stimuli."" [HPO:probinson]"
HP:0007330,Frontal encephalocele
HP:0007332,"""Focal seizure characterized at onset by clonic movements affecting half of the face."" [HPO:jalbers, PMID:28276060]"
HP:0007333,"""Underdevelopment of the frontal lobe of the cerebrum."" [HPO:sdoelken]"
HP:0007334,"""A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase."" [HPO:probinson, PMID:28276060, PMID:28276064]"
HP:0007335,"""Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections."" [HPO:probinson]"
HP:0007338,"""A saccade that overshoots the target with the dynamic saccade."" [HPO:probinson, PMID:572501]"
HP:0007340,"""Weakness of the muscles of the legs."" [HPO:curators]"
HP:0007341,Diffuse swelling of cerebral white matter
HP:0007343,"""Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]."" []"
HP:0007344,Atrophy/Degeneration involving the spinal cord
HP:0007346,Subcortical white matter calcifications
HP:0007348,Hypoplasia of the pyramidal tract
HP:0007350,Hyperreflexia in upper limbs
HP:0007351,"""A type of tremors that is triggered by holding an arm in a fixed position."" [HPO:probinson]"
HP:0007352,Cerebellar calcifications
HP:0007354,Amyotrophic lateral sclerosis
HP:0007359,"""A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures."" [HPO:jalbers, PMID:28276060, PMID:28276064]"
HP:0007360,Aplasia/Hypoplasia of the cerebellum
HP:0007361,"""A structural abnormality of the pons."" [HPO:probinson]"
HP:0007362,Aplasia/Hypoplasia of the brainstem
HP:0007363,Aplasia/Hypoplasia of the pyramidal tract
HP:0007364,Aplasia/Hypoplasia of the cerebrum
HP:0007365,Aplasia/Hypoplasia involving the corticospinal tracts
HP:0007366,Atrophy/Degeneration affecting the brainstem
HP:0007367,Atrophy/Degeneration affecting the central nervous system
HP:0007369,"""The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain."" [HPO:probinson]"
HP:0007370,"""Absence or underdevelopment of the corpus callosum."" [HPO:probinson]"
HP:0007371,"""The presence of atrophy (wasting) of the corpus callosum."" [HPO:sdoelken]"
HP:0007372,Atrophy/Degeneration involving the corticospinal tracts
HP:0007373,"""Wasting involving the motor neuron."" [HPO:probinson]"
HP:0007374,Atrophy/Degeneration involving the caudate nucleus
HP:0007375,"""An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain."" [HPO:probinson]"
HP:0007376,"""An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells."" [HPO:probinson]"
HP:0007377,"""An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex."" [HPO:curators]"
HP:0007378,"""A tumor (abnormal growth of tissue) of the gastrointestinal tract."" [HPO:probinson]"
HP:0007379,"""A tumor (abnormal growth of tissue) of the genitourinary system."" [HPO:probinson]"
HP:0007380,"""Telangiectases (small dilated blood vessels) located near the surface of the skin of the face."" [HPO:probinson]"
HP:0007381,Congenital exfoliative erythroderma
HP:0007383,Congenital localized absence of skin
HP:0007384,Aberrant melanosome maturation
HP:0007385,"""A developmental defect resulting in the congenital absence of skin on the scalp."" [HPO:probinson]"
HP:0007387,"""Underdevelopment of the sweat glands."" [HPO:curators]"
HP:0007390,Hyperkeratosis with erythema
HP:0007392,Excessive wrinkled skin
HP:0007394,Prominent superficial blood vessels
HP:0007395,"""A type of ichthyosiform erythroderma with postnatal onset."" [HPO:probinson]"
HP:0007396,"""Photosensitivity of the skin occurring early in life."" [HPO:probinson]"
HP:0007397,"""Developmental hypoplasia of the apocrine sweat glands in the region of the axilla."" [HPO:probinson]"
HP:0007398,"Asymmetric, linear skin defects"
HP:0007400,Irregular hyperpigmentation
HP:0007401,"""Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss."" [ORCID:0000-0003-0986-4123]"
HP:0007402,Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
HP:0007403,Hypertrophy of skin of soles
HP:0007404,"""Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis."" [PMID:7528239]"
HP:0007406,Hyperpigmentation of eyelids
HP:0007407,Excessive skin wrinkling on dorsum of hands and fingers
HP:0007408,"""Increased susceptibility to infection by the protozan parasite of the genus Leishmania."" [HPO:probinson]"
HP:0007410,"""An abnormally increased perspiration on palms and soles."" [HPO:probinson]"
HP:0007411,Hypoplastic-absent sebaceous glands
HP:0007412,Macular hyperpigmented dermopathy
HP:0007413,"""Naevus flammeus localised in the skin of the forehead."" [HPO:sdoelken]"
HP:0007414,Neonatal wrinkled skin of hands and feet
HP:0007417,"""Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy."" []"
HP:0007418,"""Loss of all scalp hair."" [HPO:probinson]"
HP:0007420,"""Spontaneous development of hematomas (hematoma) or bruises without significant trauma."" [DDD:akelly]"
HP:0007421,"""Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks."" [HPO:curators]"
HP:0007425,Hyperextensible skin of face
HP:0007427,Reticulated skin pigmentation
HP:0007428,"""Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa."" [HPO:probinson]"
HP:0007429,"""The presence of two to five cafe-au-lait macules."" [DDD:cmoss]"
HP:0007430,"""Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body."" [HPO:curators]"
HP:0007431,"""An ichthyosiform abnormality of the skin with congenital onset."" [HPO:probinson]"
HP:0007432,Intermittent generalized erythematous papular rash
HP:0007434,"""Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology."" [HPO:probinson]"
HP:0007436,Hair-nail ectodermal dysplasia
HP:0007437,"""The presence of multiple leiomyomas of the skin."" [HPO:probinson]"
HP:0007438,Mottled pigmentation of the trunk and proximal extremities
HP:0007439,Generalized keratosis follicularis
HP:0007440,Generalized hyperpigmentation
HP:0007441,Hyperpigmented/hypopigmented macules
HP:0007443,"""Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs."" [HPO:probinson]"
HP:0007446,"""A type of blistering that affects the skin of the palms of the hands and the soles of the feet."" [HPO:probinson]"
HP:0007447,"""Diffuse abnormal thickening of the skin on the palms and soles."" [PMID:17298101]"
HP:0007448,Hyperkeratosis over edematous areas
HP:0007449,Confetti-like hypopigmented macules
HP:0007450,Increased groin pigmentation with raindrop depigmentation
HP:0007451,"""Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome."" [PMID:29763176]"
HP:0007452,Midface capillary hemangioma
HP:0007453,"""Lichenification affecting primarily flexural areas of the skin."" [HPO:probinson]"
HP:0007455,Adermatoglyphia
HP:0007456,Progressive reticulate hyperpigmentation
HP:0007457,"""Prominent thoracic and abdominal veins."" [HPO:probinson]"
HP:0007458,Focal hyperextensible skin
HP:0007459,Generalized anhidrosis
HP:0007460,Autoamputation of digits
HP:0007461,Hemangiomatosis
HP:0007462,"""Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot."" [HPO:probinson]"
HP:0007464,"""Reduced number or density of facial hair."" [HPO:probinson]"
HP:0007465,"""Abnormal thickening of the skin on the palms and soles with an honeycomb pattern."" [PMID:9326323]"
HP:0007466,Midfrontal capillary hemangioma
HP:0007468,"""Increased amount of keratin (visible as white scales) surrounding hair follicles."" [PMID:23044575]"
HP:0007469,"""Cutis gyrata of palms and soles."" [HPO:probinson]"
HP:0007470,"""Subcutaneous nodules that are located in the vicinity of joints."" [HPO:probinson]"
HP:0007471,Axillary and groin hyperpigmentation and hypopigmentation
HP:0007473,Crusting erythematous dermatitis
HP:0007475,"""An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet."" [HPO:probinson]"
HP:0007476,Anhidrotic ectodermal dysplasia
HP:0007477,"""An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles."" [HPO:probinson]"
HP:0007479,"""The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales."" [HPO:sdoelken]"
HP:0007480,Decreased sweating due to autonomic dysfunction
HP:0007481,Hyperpigmented nevi
HP:0007482,Generalized papillary lesions
HP:0007483,Depigmentation/hyperpigmentation of skin
HP:0007485,"""Lack of subcutaneous adipose tissue."" [HPO:probinson]"
HP:0007486,Cavernous hemangioma of the face
HP:0007488,Diffuse skin atrophy
HP:0007489,"""Telangiectases (small dilated blood vessels) with a diffuse localization."" [HPO:curators]"
HP:0007490,Linear arrays of macular hyperkeratoses in flexural areas
HP:0007494,Discrete 2 to 5-mm hyper- and hypopigmented macules
HP:0007495,Prematurely aged appearance
HP:0007497,"""Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction."" [HPO:probinson]"
HP:0007499,"""Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections."" [ORCID:0000-0001-7941-2961]"
HP:0007500,"""The presence of fewer than normal sweat glands."" [HPO:probinson]"
HP:0007501,Streaks of hyperkeratosis along each finger onto the palm
HP:0007502,"""A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum."" [HPO:probinson]"
HP:0007503,Generalized ichthyosis
HP:0007504,Diffuse slow skin atrophy
HP:0007505,Progressive hyperpigmentation
HP:0007506,Congenital absence of skin of limbs
HP:0007508,"""Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands."" []"
HP:0007509,Patchy hypo- and hyperpigmentation
HP:0007510,Focal dermal aplasia/hypoplasia
HP:0007511,Mottled pigmentation of photoexposed areas
HP:0007513,Generalized hypopigmentation
HP:0007514,"""An abnormal accumulation of fluid beneath the skin on the back of the hands."" [HPO:probinson]"
HP:0007515,Hypoplastic pilosebaceous units
HP:0007516,"""Loose and sagging skin of the fingers."" [HPO:probinson]"
HP:0007517,"""Loose, wrinkled skin of hands and feet."" [HPO:probinson]"
HP:0007521,Irregular hyperpigmentation of back
HP:0007522,Increased number of skin folds
HP:0007524,Atypical neurofibromatosis
HP:0007525,"Yellow subcutaneous tissue covered by thin, scaly skin"
HP:0007526,Hypopigmented skin patches on arms
HP:0007529,Hidrotic ectodermal dysplasia
HP:0007530,Punctate palmoplantar hyperkeratosis
HP:0007534,"""Loss of hair in the occipital region of the scalp with congenital onset."" [HPO:probinson]"
HP:0007535,Hypopigmented streaks
HP:0007536,Aplasia cutis congenita of midline scalp vertex
HP:0007537,"""A severe degree of photosensitivity of the skin."" [HPO:curators]"
HP:0007541,"""Presence of a cutaneous lipoma on the forehead."" [HPO:probinson]"
HP:0007542,"""Lack of skin pigmentation (coloring) of the anterior chest."" [HPO:probinson]"
HP:0007543,Epidermal hyperkeratosis
HP:0007544,"""Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution."" [HPO:probinson]"
HP:0007545,"""Abnormal thickening of the skin on the palms and soles that is present at birth."" []"
HP:0007546,Linear hyperpigmentation
HP:0007549,Desquamation of skin soon after birth
HP:0007550,Hypohidrosis or hyperhidrosis
HP:0007552,Abnormal subcutaneous fat tissue distribution
HP:0007553,Congenital symmetrical palmoplantar keratosis
HP:0007554,Confetti hypopigmentation pattern of lower leg skin
HP:0007556,"""Hyperkeratosis affecting the sole of the foot."" [HPO:probinson]"
HP:0007559,Localized epidermolytic hyperkeratosis
HP:0007560,Unusual dermatoglyphics
HP:0007565,"""The presence of six or more cafe-au-lait spots."" [DDD:cmoss]"
HP:0007566,Index finger dermatoglyphic radial loop
HP:0007569,"""Seborrheic dermatitis that is not localized to any one particular region."" []"
HP:0007570,"""Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa."" [HPO:probinson]"
HP:0007572,Hyperpigmented streaks
HP:0007573,"""A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis."" [PMID:23984225, PMID:27904186]"
HP:0007574,Generalized bronze hyperpigmentation
HP:0007576,Palmar neurofibromas
HP:0007581,"Mediosternal, longitudinal streak of hypopigmentation"
HP:0007583,Telangiectasia macularis eruptiva perstans
HP:0007585,Skin fragility with non-scarring blistering
HP:0007586,Telangiectases producing 'marbled' skin
HP:0007587,Numerous pigmented freckles
HP:0007588,"""Increased pigmentation of the skin with a netlike (reticular) pattern."" [HPO:probinson]"
HP:0007589,"""A developmental defect resulting in the congenital absence of skin on the trunk or the limbs."" [HPO:curators]"
HP:0007590,Aplasia cutis congenita over posterior parietal area
HP:0007592,"""Absence or developmental hypoplasia of the eccrine sweat glands."" [HPO:probinson]"
HP:0007595,Redundant skin in infancy
HP:0007596,"""The presence of multiple subcutaneous lipoma that cause pain."" [HPO:probinson]"
HP:0007598,"""The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands."" [HPO:probinson]"
HP:0007599,Generalized reticulate brown pigmentation
HP:0007601,Midline facial capillary hemangioma
HP:0007602,Complex palmar dermatoglyphic pattern
HP:0007603,Freckles in sun-exposed areas
HP:0007605,Excessive wrinkling of palmar skin
HP:0007606,Multiple cutaneous malignancies
HP:0007607,Hypohidrotic ectodermal dysplasia
HP:0007608,Abnormal palmar dermal ridges
HP:0007609,"""An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia)."" [HPO:curators]"
HP:0007610,Blotching pigmentation of the skin
HP:0007613,Spinous keratoses of palms and soles
HP:0007616,"""Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns."" [HPO:sdoelken]"
HP:0007617,"Fine, reticulate skin pigmentation"
HP:0007618,"""Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument)."" [HPO:probinson]"
HP:0007620,"""The presence of leiomyoma of the skin."" [HPO:probinson]"
HP:0007621,Telangiectasia of extensor surfaces
HP:0007623,Pigmentation anomalies of sun-exposed skin
HP:0007626,"""Osteomyelitis of the lower jaw."" []"
HP:0007627,Mandibular condyle aplasia
HP:0007628,Mandibular condyle hypoplasia
HP:0007633,"""A developmental anomaly characterized by abnormal smallness of both eyes."" [HPO:curators]"
HP:0007634,"""An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates."" [HPO:probinson, PMID:17698200]"
HP:0007641,"""A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments."" [DDD:ncarter]"
HP:0007642,"""A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset."" [HPO:probinson]"
HP:0007643,"""Tractional retinal detachment at the periphery of the retina."" []"
HP:0007646,"""Lack of eyelashes on the lower lid."" [HPO:probinson]"
HP:0007647,"""Congenital abnormality of the extraocular muscles."" [HPO:probinson]"
HP:0007648,"""A type of cataract with punctate opacities of the lens."" [HPO:probinson]"
HP:0007649,"""Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium."" [DDD:ncarter]"
HP:0007650,Progressive ophthalmoplegia
HP:0007651,Ectropion of lower eyelids
HP:0007655,Eversion of lateral third of lower eyelids
HP:0007656,"""A congenital defect of development characterized by absence of the lacrimal gland."" [HPO:probinson]"
HP:0007657,"""Opacity of the entire lens nucleus."" [HPO:probinson]"
HP:0007658,Large hyperpigmented retinal spots
HP:0007661,Abnormality of chorioretinal pigmentation
HP:0007663,Reduced visual acuity
HP:0007665,"""Abnormally curly or curved eyelashes."" [HPO:curators]"
HP:0007667,"""Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly."" [ORCID:0000-0003-0986-4123]"
HP:0007668,Impaired pursuit initiation and maintenance
HP:0007670,"""An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude."" [HPO:probinson, PMID:3625219]"
HP:0007675,Progressive night blindness
HP:0007676,"""Congenital underdevelopment of the iris."" [HPO:probinson]"
HP:0007677,"""Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula."" [DDD:gblack, PMID:18289629]"
HP:0007678,"""Narrowing of a tear duct (lacrimal duct)."" [HPO:probinson]"
HP:0007680,Depigmented fundus
HP:0007685,Peripheral retinal avascularization
HP:0007686,"""A functional abnormality of the pupil."" [HPO:probinson]"
HP:0007687,"""A unilateral form of ptosis."" [HPO:probinson]"
HP:0007688,"""Absence of the combined rod-and-cone response on electroretinogram."" [HPO:probinson]"
HP:0007690,Map-dot-fingerprint corneal dystrophy
HP:0007695,"""An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye."" [HPO:probinson]"
HP:0007697,"""Underdevelopment of the lower eyelid."" [HPO:probinson]"
HP:0007700,"""Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin."" [DDD:ncarter]"
HP:0007703,Abnormality of retinal pigmentation
HP:0007704,"""Sudden-onset episode of abnormal, involuntary eye movements."" [HPO:probinson]"
HP:0007705,Corneal degeneration
HP:0007707,"""Absence of the crystalline lens of the eye as a result of a developmental defect."" [HPO:probinson]"
HP:0007708,Absent inner eyelashes
HP:0007709,"""A type of genetically determined disease of the cornea with corneal lesions with a band-like shape."" []"
HP:0007710,Peripheral vitreous opacities
HP:0007715,Weak extraocular muscles
HP:0007716,"""A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)."" [HPO:curators]"
HP:0007717,"""A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes."" [HPO:curators]"
HP:0007720,"""Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age."" [HPO:probinson]"
HP:0007721,"""Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva."" [HPO:probinson]"
HP:0007722,"""Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging."" [HPO:probinson]"
HP:0007727,"""Lack of transparency of the corneal epithelium."" [DDD:gblack]"
HP:0007728,"""Abnormal (non-physiological) constriction of the pupil of congenital onset."" [HPO:probinson]"
HP:0007730,"""An abnormal reduction in the amount of pigmentation of the iris."" [HPO:probinson]"
HP:0007731,"""Abnormal development of the choroid and retina."" [HPO:probinson]"
HP:0007732,"""Underdevelopment of the lacrimal gland."" [HPO:probinson]"
HP:0007733,Laterally curved eyebrow
HP:0007734,"""Abnormally big lacrimal glands."" [HPO:probinson]"
HP:0007737,"""Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone)."" [HPO:probinson]"
HP:0007738,Uncontrolled eye movements
HP:0007740,Long eyelashes in irregular rows
HP:0007747,Monocular horizontal nystagmus
HP:0007750,"""Underdevelopment of the fovea centralis."" [HPO:probinson]"
HP:0007754,"""Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident."" [HPO:probinson]"
HP:0007755,Juvenile epithelial corneal dystrophy
HP:0007759,"""Reduced transparency of the stroma of cornea."" [DDD:gblack]"
HP:0007760,Crystalline corneal dystrophy
HP:0007761,"""A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point."" [HPO:probinson]"
HP:0007763,"""Dilatation of small blood vessels of the retina."" [HPO:probinson]"
HP:0007765,"""Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased."" [HPO:probinson]"
HP:0007766,"""Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve."" [HPO:probinson]"
HP:0007768,"""The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules)."" [HPO:probinson]"
HP:0007769,Peripheral retinal degeneration
HP:0007770,Hypoplasia of the retina
HP:0007772,"""An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion."" [HPO:probinson]"
HP:0007773,"""Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment."" [HPO:probinson, ORCID:0000-0003-0986-4123, PMID:18179896]"
HP:0007774,"""Underdevelopment of the ciliary body."" [HPO:probinson]"
HP:0007776,Sparse lower eyelashes
HP:0007777,"""Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye."" []"
HP:0007778,"""A type of retinal neovascularization that affects the posterior pole of the retina."" [HPO:probinson]"
HP:0007779,Anterior segment of eye aplasia
HP:0007780,"""A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens."" [HPO:probinson]"
HP:0007787,"""A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule."" [HPO:probinson]"
HP:0007791,"""Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas."" []"
HP:0007792,Microsaccadic pursuit
HP:0007793,"""Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea."" [HPO:probinson]"
HP:0007795,"""A cataract that affects the anterior part of the cortex of the lens."" [HPO:probinson]"
HP:0007797,Retinal vascular malformation
HP:0007799,"""The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis."" [HPO:probinson]"
HP:0007800,"""Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean."" [DDD:ncarter]"
HP:0007802,"""The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material."" [HPO:curators]"
HP:0007803,"""Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray."" [DDD:gblack]"
HP:0007807,Optic nerve compression
HP:0007809,Punctate corneal dystrophy
HP:0007811,"""Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity."" [HPO:probinson]"
HP:0007812,"""The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining."" [HPO:probinson]"
HP:0007813,"""A form of uveitis that is not associated with the formation of granulomas."" [HPO:probinson]"
HP:0007814,"""Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium."" [HPO:probinson]"
HP:0007815,Abnormal distribution of retinal arterioles and venules
HP:0007817,"""A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal."" [HPO:probinson]"
HP:0007818,"""The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone."" [HPO:probinson]"
HP:0007819,"""Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual."" [HPO:probinson, PMID:17030721]"
HP:0007820,"""Congenital absence or closure of the opening of the lacrimal punctum."" [HPO:probinson]"
HP:0007822,Central retinal exudate
HP:0007824,"""Paralysis of both the extrinsic and intrinsic ocular muscles."" [HPO:probinson]"
HP:0007827,Nodular corneal dystrophy
HP:0007830,"""Inability to see well at night or in poor light with onset in adulthood."" [HPO:probinson]"
HP:0007831,"""Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited."" [HPO:probinson]"
HP:0007832,Pigmentation of the sclera
HP:0007833,Anterior chamber synechiae
HP:0007834,"""A kind of cataract that progresses with age."" [HPO:probinson]"
HP:0007835,S-shaped palpebral fissures
HP:0007836,Mosaic corneal dystrophy
HP:0007838,"""A progressive form of ptosis."" [HPO:probinson]"
HP:0007840,"""Increased length of the upper eyelashes."" [HPO:probinson]"
HP:0007841,"""Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity."" [HPO:probinson]"
HP:0007843,Attenuation of retinal blood vessels
HP:0007850,Retinal vascular proliferation
HP:0007854,Glaucomatous visual field defect
HP:0007856,"""Punctate opacification (reduced transparency) of the corneal stroma."" [DDD:gblack]"
HP:0007858,"""Punched out lesions in the pigmented layer of the retina."" [HPO:probinson]"
HP:0007859,"""Horizontal nystagmus dating from or present at birth."" [HPO:curators]"
HP:0007862,"""Deposition of calcium salts in the retina."" [HPO:probinson]"
HP:0007866,Retinal infarction
HP:0007867,"""Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position."" [HPO:probinson]"
HP:0007872,"""The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas."" [HPO:probinson]"
HP:0007873,Abnormally prominent line of Schwalbe
HP:0007874,"""A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point."" [PMID:19125427]"
HP:0007875,"""Blindness with onset at birth."" [HPO:probinson]"
HP:0007879,"""Allergic Conjunctivitis is an allergic inflammation of the conjunctiva."" [HPO:probinson]"
HP:0007880,Marginal corneal dystrophy
HP:0007881,Central corneal dystrophy
HP:0007885,"""An abnormally slow velocity of horizontal saccadic eye movements."" [HPO:probinson]"
HP:0007886,"""Congenital absence of the extraocular muscles."" [HPO:probinson]"
HP:0007889,"""A type of posterior subcapsular cataract characterized by an iridescent color."" [HPO:probinson, PMID:7826272]"
HP:0007892,"""Underdevelopment of the lacrimal puncta."" [HPO:probinson]"
HP:0007894,"""Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)."" [ORCID:0000-0003-0986-4123]"
HP:0007898,Exudative retinopathy
HP:0007899,"""Failure of attachment of the retina during development."" [HPO:probinson, PMID:21441919]"
HP:0007900,Hypoplastic lacrimal duct
HP:0007902,"""Bleeding within the vitreous compartment of the eye."" [DDD:akelly, PMID:16882398]"
HP:0007903,"""Chorioretinal atrophy along the retinal veins."" [HPO:probinson, PMID:15623792]"
HP:0007905,Abnormal iris vasculature
HP:0007906,"""Intraocular pressure that is 2 standard deviations above the population mean."" []"
HP:0007911,Congenital bilateral ptosis
HP:0007913,"""A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation."" []"
HP:0007915,"""This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma."" [HPO:probinson]"
HP:0007917,"""A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes."" [HPO:probinson, ISBN-13:978-0199679980]"
HP:0007922,Hypermyelinated retinal nerve fibers
HP:0007924,Slow decrease in visual acuity
HP:0007925,"""A congenital defect resulting in absence of the lacrimal duct."" [HPO:probinson]"
HP:0007928,"""Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room."" [HPO:probinson]"
HP:0007929,"""Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina."" []"
HP:0007932,"""Congenital abnormal dilation of the pupil on both sides."" [HPO:probinson]"
HP:0007933,"""Regional increase in the width (height) of the lateral eyebrow."" [HPO:probinson]"
HP:0007935,Juvenile posterior subcapsular lenticular opacities
HP:0007936,"""Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited."" [HPO:probinson]"
HP:0007937,"""A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus."" [HPO:fprobst, PMID:28114409]"
HP:0007939,"""A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors."" [HPO:probinson]"
HP:0007941,"""Limited mobility of the eye within its socket."" []"
HP:0007942,"""Paralysis of the iris and ciliary apparatus."" [HPO:probinson]"
HP:0007943,"""A form of stapes ankylosis with congenital onset."" [HPO:probinson]"
HP:0007944,Intermittent microsaccadic pursuits
HP:0007946,"""A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only."" [HPO:probinson]"
HP:0007947,"""A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery."" [ORCID:0000-0003-0986-4123, PMID:28981474]"
HP:0007948,"""A type of posterior cortical cataract characterized by dense lenticular opacities."" [HPO:probinson]"
HP:0007950,"""Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head)."" [HPO:probinson]"
HP:0007957,"""A reduction of corneal clarity."" [HPO:probinson]"
HP:0007958,Optic atrophy from cranial nerve compression
HP:0007962,Speckled corneal dystrophy
HP:0007963,"""A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation)."" [ORCID:0000-0003-0986-4123]"
HP:0007964,Degenerative vitreoretinopathy
HP:0007965,Undetectable visual evoked potentials
HP:0007968,"""Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract."" [HPO:probinson]"
HP:0007970,Congenital ptosis
HP:0007971,"""A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens."" [HPO:probinson]"
HP:0007973,"""The presence of developmental dysplasia of the retina."" [HPO:probinson]"
HP:0007975,"""Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object."" [HPO:probinson, PMID:572501]"
HP:0007976,"""Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary."" [HPO:probinson, PMID:19496508, PMID:9158139]"
HP:0007979,"""Horizontal nystagmus made apparent by looking to the right or to the left."" [HPO:curators]"
HP:0007980,Absent retinal pigment epithelium
HP:0007984,"""A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3)."" [HPO:probinson]"
HP:0007985,"""Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina."" [HPO:probinson]"
HP:0007986,Increased retinal vascularity
HP:0007987,Progressive visual field defects
HP:0007988,"""Decreased amount of pigmentation in the macula lutea."" [DDD:ncarter]"
HP:0007989,"""Retinal exudate within the retinal tissue itself."" [HPO:probinson]"
HP:0007990,"""Underdevelopment of the stroma of iris."" [HPO:probinson]"
HP:0007992,Lattice retinal degeneration
HP:0007993,"""Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies."" [HPO:probinson]"
HP:0007994,"""Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision."" [HPO:probinson]"
HP:0008000,"""An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids."" [HPO:probinson]"
HP:0008001,"""Increased amount of pigmentation in the fovea centralis."" [HPO:probinson]"
HP:0008002,"""Abnormality of macular or foveal pigmentation."" [DDD:ncarter]"
HP:0008003,Jerky ocular pursuit movements
HP:0008007,Primary congenital glaucoma
HP:0008009,Three rows of eyelashes
HP:0008011,"""Reduced transparency of the peripheral region of the cornea."" [HPO:probinson]"
HP:0008014,"""Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc."" [HPO:probinson]"
HP:0008019,"""Partial dislocation of the lens in a superior direction."" [HPO:probinson, PMID:5087595]"
HP:0008020,"""Inherited progressive cone degeneration."" []"
HP:0008026,Horizontal opticokinetic nystagmus
HP:0008028,"""A form of macular degeneration characterized by the presence of multiple cysts in the macula."" [HPO:probinson]"
HP:0008030,Retinal arteritis
HP:0008031,"""A type of sutural cataract in which the opacity follows the posterior Y suture."" [HPO:probinson]"
HP:0008034,"""Abnormal pigmentation of the iris."" [HPO:probinson]"
HP:0008035,"""Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery)."" [ORCID:0000-0003-0986-4123, PMID:9734800]"
HP:0008037,"""Absence of the anterior chamber of the eye owing to a developmental defect."" []"
HP:0008038,"""Absence or underdevelopment of the lacrimal gland."" [HPO:probinson]"
HP:0008039,Subepithelial corneal opacities
HP:0008041,Late onset congenital glaucoma
HP:0008043,"""Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina."" [HPO:probinson]"
HP:0008045,Enlarged flash visual evoked potentials
HP:0008046,"""A structural abnormality of retinal vasculature."" [HPO:probinson]"
HP:0008047,Abnormality of the vasculature of the eye
HP:0008048,"""An abnormality of the line of Schwalbe."" [HPO:probinson]"
HP:0008049,"""An abnormality of an extraocular muscle."" [HPO:probinson]"
HP:0008050,"""An anomaly of the space between the medial and lateral canthi of the two open eyelids."" [HPO:probinson]"
HP:0008052,"""A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy."" [HPO:probinson]"
HP:0008053,"""Absence or underdevelopment of the iris."" [HPO:probinson]"
HP:0008054,"""Any abnormality of the blood vessels of the conjunctiva."" [HPO:curators]"
HP:0008055,"""Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid."" [HPO:probinson]"
HP:0008056,Aplasia/Hypoplasia affecting the eye
HP:0008057,Aplasia/Hypoplasia affecting the fundus
HP:0008058,Aplasia/Hypoplasia of the optic nerve
HP:0008059,Aplasia/Hypoplasia of the macula
HP:0008060,"""Congenital absence or underdevelopment of the fovea centralis."" [HPO:probinson]"
HP:0008061,Aplasia/Hypoplasia of the retina
HP:0008062,"""Absence or underdevelopment of the anterior segment of the eye."" [HPO:probinson]"
HP:0008063,"""Absence or underdevelopment of the lens."" [HPO:probinson]"
HP:0008064,"""An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization."" [HPO:probinson]"
HP:0008065,Aplasia/Hypoplasia of the skin
HP:0008066,"""The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls."" [HPO:probinson, PMID:31596619]"
HP:0008067,Abnormally lax or hyperextensible skin
HP:0008069,"""A tumor (abnormal growth of tissue) of the skin."" [HPO:probinson]"
HP:0008070,"""Reduced density of hairs."" [HPO:probinson, PMID:14676077]"
HP:0008071,"""Increased blood pressure during a pregnancy."" [HPO:sdoelken]"
HP:0008072,"""Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum."" [HPO:probinson]"
HP:0008073,"""An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age."" [PMID:19038077]"
HP:0008074,Metatarsal periosteal thickening
HP:0008075,"""The development of Pes cavus that is progressive with age."" [HPO:probinson]"
HP:0008076,"""Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones."" [HPO:probinson]"
HP:0008078,Thin metatarsal cortices
HP:0008079,"""A developmental abnormality characterized by the absence of the fifth metatarsal bone."" [HPO:probinson]"
HP:0008080,"""Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially."" [HPO:curators]"
HP:0008081,"""An outward deviation of the foot at the talocalcaneal or subtalar joint."" []"
HP:0008082,Medial deviation of the foot
HP:0008083,2nd-5th toe middle phalangeal hypoplasia
HP:0008087,"""The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible."" [HPO:probinson]"
HP:0008089,"""An anomaly of the fifth metatarsal bone."" [HPO:probinson]"
HP:0008090,Ankylosis of feet small joints
HP:0008093,"""Underdevelopment (hypoplasia) of the fourth toe."" [HPO:probinson]"
HP:0008094,"""An overall widening of the spaces between the digits."" [HPO:probinson, PMID:19125433]"
HP:0008095,"""Osteolysis affecting the talus."" [HPO:sdoelken]"
HP:0008096,"""Medial deviation of the second toe."" [HPO:probinson]"
HP:0008097,Partial fusion of tarsals
HP:0008102,Expanded metatarsals with widened medullary cavities
HP:0008103,"""Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones."" [HPO:probinson]"
HP:0008107,"""The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe."" [HPO:probinson]"
HP:0008108,"""Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones."" [HPO:probinson]"
HP:0008110,Equinovarus deformity
HP:0008111,Broad distal hallux
HP:0008112,Plantar flexion contractures
HP:0008113,Multiple plantar creases
HP:0008114,"""Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones."" [HPO:curators]"
HP:0008115,"""Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe)."" [HPO:probinson]"
HP:0008116,"""Limitation of the ability to bend the toes."" [HPO:probinson]"
HP:0008117,Shortening of the talar neck
HP:0008119,Deformed tarsal bones
HP:0008122,"""Synostosis of the calcaneus with the navicular bone."" [HPO:probinson]"
HP:0008124,"""A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus."" [HPO:probinson]"
HP:0008125,Second metatarsal posteriorly placed
HP:0008127,"""A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification."" [HPO:probinson]"
HP:0008131,"""The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones."" [HPO:probinson]"
HP:0008132,Medial rotation of the medial malleolus
HP:0008133,Distal tapering of metatarsals
HP:0008134,"""Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones."" [HPO:probinson]"
HP:0008138,"""Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees."" [HPO:probinson]"
HP:0008141,Dislocation of toes
HP:0008142,"""Delayed maturation and calcification of the calcaneus."" [HPO:probinson]"
HP:0008144,Flattening of the talar dome
HP:0008148,"""Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine."" [DDD:wouwehand]"
HP:0008150,"""Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections."" [HPO:curators]"
HP:0008151,"""Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT."" [HPO:probinson, PMID:26351955, PMID:29939529]"
HP:0008153,"""Episodes of muscle weakness associated with reduced levels of potassium in the blood."" [HPO:probinson]"
HP:0008155,"""Excessive amounts of mucopolysaccharide in the urine."" [HPO:probinson]"
HP:0008158,"""Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein."" [HPO:probinson, PMID:6579550]"
HP:0008160,"""An increase in the level of 3-hydroxydicarboxylic acid in the urine."" [ORCID:0000-0001-5208-3432]"
HP:0008161,"""Alkaline phosphatase levels measured within leukocytes is below detectable levels."" [HPO:probinson]"
HP:0008162,"""An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy."" [HPO:probinson]"
HP:0008163,"""Abnormally reduced concentration of cortisol in the blood."" [HPO:probinson]"
HP:0008165,"""Reduced proportion of helper T cells relative to the total number of T cells."" [HPO:probinson]"
HP:0008166,"""Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma."" [HPO:gcarletti]"
HP:0008167,Very long chain fatty acid accumulation
HP:0008169,"""Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X."" [HPO:probinson]"
HP:0008176,Neonatal unconjugated hyperbilirubinemia
HP:0008178,Abnormal cartilage matrix
HP:0008179,"""An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record."" [HPO:probinson]"
HP:0008180,Mildly elevated creatine kinase
HP:0008181,"""An absence of low-density lipoprotein cholesterol in the blood."" [HPO:probinson]"
HP:0008182,Adrenocortical hypoplasia
HP:0008185,"""The onset of puberty before the age of 9 years in boys."" [HPO:curators]"
HP:0008186,"""The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex."" [HPO:probinson]"
HP:0008187,"""No secondary sexual characteristics are present at puberty."" [HPO:probinson]"
HP:0008188,Thyroid dysgenesis
HP:0008189,"""Decreased sensitivity toward insulin."" [HPO:probinson]"
HP:0008191,"""The congenital absence of the thyroid gland."" [HPO:probinson, PMID:2918525]"
HP:0008193,Primary gonadal insufficiency
HP:0008194,"""The presence of multiple pancreatic islet cell adenomas."" [HPO:probinsojn]"
HP:0008197,Absence of pubertal development
HP:0008198,"""Deficiency of parathyroid hormone with congenital onset."" [DDD:spark, HPO:probinson]"
HP:0008200,"""A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia."" [HPO:probinson]"
HP:0008202,"""A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production."" [DDD:spark, HPO:probinson, PMID:23378139]"
HP:0008204,Precocious puberty with Sertoli cell tumor
HP:0008205,"""Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin."" [HPO:probinson]"
HP:0008207,"""Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves."" [HPO:probinson]"
HP:0008208,"""Hyperplasia of the parathyroid gland."" [HPO:probinson]"
HP:0008209,"""Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea."" [HPO:probinson]"
HP:0008211,"""Aplasia of the parathyroid gland."" [HPO:probinson]"
HP:0008213,"""A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH)."" [DDD:spark]"
HP:0008214,"""A reduction below normal concentration of estradiol in the circulation."" []"
HP:0008216,"""Abnormal development of the adrenal gland."" [DDD:spark]"
HP:0008221,"""Enlargement of the adrenal gland."" [DDD:spark]"
HP:0008222,Female infertility
HP:0008223,"""Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4)."" [PMID:28406057]"
HP:0008225,Thyroid follicular hyperplasia
HP:0008226,"""Insufficient amount of androgenic activity."" [HPO:probinson]"
HP:0008227,"""A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal."" [HPO:curators]"
HP:0008229,"""The presence of lymphangiectasis of the thyroid gland."" [HPO:probinson]"
HP:0008231,Macronodular adrenal hyperplasia
HP:0008232,"""An elevated concentration of follicle-stimulating hormone in the blood."" [HPO:probinson]"
HP:0008233,"""An reduced concentration of progesterone in the blood."" []"
HP:0008236,Isosexual precocious puberty
HP:0008237,"""A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity."" [HPO:probinson, PMID:18731015]"
HP:0008239,"""Developmental hypoplasia of the adrenal medulla."" [HPO:probinson]"
HP:0008240,Secondary growth hormone deficiency
HP:0008242,"""A state of renal tubular unresponsiveness or resistance to the action of aldosterone."" [HPO:probinson]"
HP:0008244,"""A type of adrenal hypoplasia with congenital onset."" [HPO:probinson]"
HP:0008245,"""A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion."" [HPO:probinson]"
HP:0008247,"""An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease."" [eMedicine:118562, HPO:probinson]"
HP:0008249,"""Hyperplasia of the thyroid gland."" [HPO:probinson]"
HP:0008250,Infantile hypercalcemia
HP:0008251,"""An enlargement of the thyroid gland with congenital onset."" [HPO:probinson]"
HP:0008255,Transient neonatal diabetes mellitus
HP:0008256,"""Adrenocortical adenomas are benign tumors of the adrenal cortex."" [HPO:probinson, PMID:17287480]"
HP:0008258,"""A type of adrenal hyperplasia with congenital onset."" [HPO:probinson]"
HP:0008259,"""Adrenal insufficiency secondary to a defect in the ACTH receptor."" [DDD:spark]"
HP:0008261,"""The presence of an adenoma of the pancreas with origin in a pancreatic B cell."" [HPO:probinson]"
HP:0008263,Thyroid defect in oxidation and organification of iodide
HP:0008264,"""The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies."" [HPO:probinson]"
HP:0008265,Mitochondrial lysine transport defect
HP:0008269,Increased red cell hemolysis by shear stress
HP:0008271,"""Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix."" [HPO:probinson, PMID:11879535, PMID:7757081, PMID:9468540]"
HP:0008272,Renal tubular lysine transport defect
HP:0008273,Transient aminoaciduria
HP:0008275,Abnormal light-adapted electroretinogram
HP:0008277,"""An abnormality of zinc ion homeostasis."" [HPO:probinson]"
HP:0008278,"""Atrophy (wasting) of the cerebellar cortex."" [HPO:probinson]"
HP:0008279,Transient hyperlipidemia
HP:0008281,"""An increased concentration of ammonia in the blood with sudden onset."" [HPO:probinson]"
HP:0008282,"""An increased amount of unconjugated (indirect) bilurubin in the blood."" [HPO:probinson]"
HP:0008283,"""An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake."" [HPO:probinson]"
HP:0008285,Transient hypophosphatemia
HP:0008288,Nonketotic hyperglycinemia
HP:0008290,"""A partial reduction in level of the complement component Factor H in circulation."" [https://emedicine.medscape.com/article/135478-overview]"
HP:0008291,"""A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH)."" [DDD:spark, HPO:probinson]"
HP:0008293,"""An increase in the level of long-chain dicarboxylic acid in the urine."" [ORCID:0000-0001-5208-3432]"
HP:0008297,"""A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine)."" [HPO:probinson]"
HP:0008301,"""An increased concentration of dermatan sulfate in the urine."" [HPO:gcarletti]"
HP:0008303,"""Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata."" [HPO:probinson]"
HP:0008305,"""Presence of myoglobin in the urine following exercise."" [HPO:probinson]"
HP:0008306,Abnormal iron deposition in mitochondria
HP:0008309,"""An increase in the level of medium chain dicarboxylic acid in the urine."" [ORCID:0000-0001-5208-3432]"
HP:0008311,Spinal cord posterior columns myelin loss
HP:0008314,"""A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria."" [HPO:probinson]"
HP:0008315,"""A decreased concentration of free (unbound) carnitine in the blood."" [HPO:probinson]"
HP:0008316,"""An abnormality of the mitochondria in muscle tissue."" [HPO:probinson]"
HP:0008318,"""Increased alkaline phosphatase measured within leukocytes."" [HPO:probinson]"
HP:0008320,"""Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics."" [DDD:kfreson]"
HP:0008321,"""Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa)."" [HPO:probinson]"
HP:0008322,"""Any structural anomaly of the mitochondria."" [HPO:probinson]"
HP:0008323,"""An abnormality of the combined rod-and-cone response on electroretinogram."" [HPO:probinson]"
HP:0008326,"""An abnormally decreased concentration of vitamin B6 in the blood circulation."" []"
HP:0008327,"""The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma."" [HPO:probinson]"
HP:0008330,"""Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces."" [HPO:probinson, PMID:19694940]"
HP:0008331,Elevated creatine kinase after exercise
HP:0008336,Complex organic aciduria
HP:0008338,"""A partial reduction in level of the complement component Factor D in circulation."" []"
HP:0008339,"""An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine)."" []"
HP:0008341,"""A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia."" [HPO:probinson]"
HP:0008344,"""An increased concentration of a branched chain amino acid in the blood."" [HPO:gcarletti]"
HP:0008345,"""Underdevelopment of the dilatator pupillae."" [HPO:probinson]"
HP:0008346,Increased red cell sickling tendency
HP:0008347,"""A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria."" [HPO:probinson]"
HP:0008348,"""A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation."" [HPO:probinson]"
HP:0008352,"""An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation."" [HPO:probinson]"
HP:0008353,"""The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine."" [PMID:30177408]"
HP:0008354,"""Reduced ability to transform factor X into its activated form factor Xa."" [HPO:probinson]"
HP:0008357,"""Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot."" [HPO:probinson]"
HP:0008358,"""An increased concentration of proline in the blood."" [HPO:gcarletti]"
HP:0008360,"""A neonatal decreased concentration of proteins in the blood."" [HPO:gcarletti]"
HP:0008361,Corticospinal tract pallor
HP:0008362,"""Absence or underdevelopment of the big toe."" [HPO:curators]"
HP:0008363,"""Absence or underdevelopment of the tarsal bones."" [HPO:curators]"
HP:0008364,"""An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel."" [HPO:probinson]"
HP:0008365,"""An abnormality of the talus."" [HPO:probinson]"
HP:0008366,"""Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue."" []"
HP:0008368,"""Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones)."" [HPO:probinson]"
HP:0008369,"""An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones."" [HPO:probinson]"
HP:0008371,"""Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years."" [HPO:probinson]"
HP:0008372,Abnormality of vitamin A metabolism
HP:0008373,Puberty and gonadal disorders
HP:0008376,"Nasal, dysarthic speech"
HP:0008383,"""Nails whose growth is slower than normal."" [HPO:probinson]"
HP:0008386,"""Aplasia or developmental hypoplasia of the nail."" [HPO:probinson]"
HP:0008388,"""An anomaly of the toenail."" [HPO:probinson]"
HP:0008390,"""Repeated loss, or shedding, of the nails of the fingers and toes."" [DDD:cmoss]"
HP:0008391,"""The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate."" [HPO:probinson]"
HP:0008392,"""A thickening of the stratum corneum in the region beneath the nails."" [HPO:probinson]"
HP:0008393,Congenital curved nail of fourth toe
HP:0008394,Congenital onychodystrophy
HP:0008396,"""Chronic infection of the nails by Candida species."" [HPO:probinson]"
HP:0008398,"""A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger."" [HPO:probinson]"
HP:0008399,"""A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails."" [HPO:probinson]"
HP:0008400,"""Detachment of the distal fingernails from the nail bed."" [HPO:probinson]"
HP:0008401,"""Thickened toenails."" [HPO:probinson]"
HP:0008402,"""Longitudinal, linear prominences in the fingernail plate."" [HPO:probinson, PMID:19125433]"
HP:0008404,"""Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate."" [PMID:19675700]"
HP:0008407,Hyperconvex thumb nails
HP:0008410,Subungual hyperkeratotic fragments
HP:0008414,Lumbar kyphosis in infancy
HP:0008416,Six lumbar vertebrae
HP:0008417,"""Small, underdeveloped vertebral bodies."" [HPO:probinson]"
HP:0008418,Squared-off platyspondyly
HP:0008419,"""The presence of degenerative changes of intervertebral disk."" [HPO:probinson]"
HP:0008420,"""The presence of punctiform calcification of the bone of the vertebral bodies."" [HPO:probinson]"
HP:0008421,Tall lumbar vertebral bodies
HP:0008422,"""An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other."" [HPO:probinson]"
HP:0008423,"""The presence of developmental dysplasia of the vertebral column."" [HPO:probinson]"
HP:0008424,Hypoplastic 5th lumbar vertebrae
HP:0008425,Cuboid-shaped thoracolumbar vertebral bodies
HP:0008428,"""Schisis (cleft or cleavage) of vertebral bodies."" [HPO:probinson]"
HP:0008430,"""Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine."" [HPO:probinson]"
HP:0008432,"""An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front)."" [HPO:probinson]"
HP:0008433,Reversed usual vertebral column curves
HP:0008434,Hypoplastic cervical vertebrae
HP:0008435,Absent in utero ossification of vertebral bodies
HP:0008436,Absent/hypoplastic coccyx
HP:0008437,Bifid thoracic vertebrae
HP:0008438,"""A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra."" [HPO:probinson]"
HP:0008439,"""Absence of one half of the vertebral body in the lumbar spine."" [HPO:probinson]"
HP:0008440,"""Any abnormality of the atlas and the axis."" [HPO:probinson]"
HP:0008441,"""The presence of one or more herniated nucleus pulposus of intervertebral disk."" [HPO:probinson]"
HP:0008442,"""Excessive growth of the bones of the vertebral bodies."" [HPO:curators]"
HP:0008443,"""A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures."" [PMID:29755231]"
HP:0008444,"""An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back)."" [HPO:probinson]"
HP:0008445,"""An abnormal narrowing of the cervical spinal canal."" [HPO:probinson]"
HP:0008447,Hypoplastic coccygeal vertebrae
HP:0008449,Progressive cervical vertebral spine fusion
HP:0008450,"""A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces."" [HPO:probinson]"
HP:0008451,Posterior vertebral hypoplasia
HP:0008452,Wafer-thin platyspondyly
HP:0008453,Congenital kyphoscoliosis
HP:0008454,"""Over curvature of the lumbar region."" [HPO:probinson]"
HP:0008455,"""A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally."" []"
HP:0008456,"""A partial dislocation of the intervertebral joint between the second and third cervical vertebrae."" [HPO:probinson]"
HP:0008457,"""Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine."" [HPO:probinson]"
HP:0008458,"""A progressive form of scoliosis with congenital onset."" [HPO:probinson]"
HP:0008459,"""Agenesis of one or more vertebrae of the cervical vertebral column."" [HPO:probinson]"
HP:0008460,Hypoplastic spinal processes
HP:0008461,Cervical vertebral facet hypoplasia
HP:0008462,Cervical instability
HP:0008463,Central vertebral hypoplasia
HP:0008464,Absent spinous processes of lower thoracic and lumbar vertebrae
HP:0008465,"""A developmental defect characterized by agenesis of one or more vertebral bodies."" [PMID:26167231]"
HP:0008467,"""Absence of one half of the vertebral body in the thoracic spine."" [HPO:probinson]"
HP:0008468,"""An abnormality related to a defect of vertebral separation of sacral vertebrae during development."" []"
HP:0008469,"""Dysplasia of the cervical vertebral column."" [HPO:probinson]"
HP:0008470,"""A reduction of the distance between the lower thoracic vertebral pedicles."" [HPO:probinson]"
HP:0008472,Prominent protruding coccyx
HP:0008473,"""An abnormal reduction of the anterioposterior diameter of the vertebral body."" [HPO:probinson]"
HP:0008475,Hypoplastic sacral vertebrae
HP:0008476,Irregular sclerotic endplates
HP:0008477,"""Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set."" [HPO:probinson]"
HP:0008478,Scheuermann-like vertebral changes
HP:0008479,Hypoplastic vertebral bodies
HP:0008480,"""The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column."" [HPO:probinson]"
HP:0008482,Asymmetry of spinal facet joints
HP:0008483,Cervical vertebral bodies with decreased anteroposterior diameter
HP:0008484,"""A reduction of the distance between thoracolumbar vertebral pedicles."" [HPO:probinson]"
HP:0008486,"""Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column."" [HPO:probinson]"
HP:0008488,Anterior rounding of vertebral bodies
HP:0008489,"""Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1)."" [HPO:probinson]"
HP:0008490,Sacral segmentation defect
HP:0008491,"""Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life."" [HPO:probinson]"
HP:0008494,"""Partial displacement of the lens in the inferior direction."" [HPO:probinson]"
HP:0008496,Multiple rows of eyelashes
HP:0008497,Congenital craniofacial dysostosis
HP:0008498,No permanent dentition
HP:0008499,"""A severe form of hypermetropia with over +5.00 diopters."" [DDD:ncarter, ORCID:0000-0003-0986-4123]"
HP:0008501,"""Cleft lip or palate affecting the midline region of the palate."" [HPO:sdoelken]"
HP:0008504,"""The presence of a moderate form of sensorineural hearing impairment."" [HPO:probinson]"
HP:0008507,Static ophthalmoparesis
HP:0008509,Aged leonine appearance
HP:0008511,"""Reduced transparency of the central posterior portion of the corneal stroma."" [HPO:probinson]"
HP:0008513,"""A bilateral type of conductive hearing impairment."" [HPO:probinson]"
HP:0008515,Aplasia/Hypoplasia of the vertebrae
HP:0008516,Abnormality of the vertebral spinous processes
HP:0008517,"""Aplasia or developmental hypoplasia of the sacral bone."" [HPO:probinson]"
HP:0008518,Aplasia/Hypoplasia involving the vertebral column
HP:0008519,"""Any structural abnormality of the coccyx."" [HPO:probinson]"
HP:0008523,"""Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated."" [PMID:19152421]"
HP:0008527,"""A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset."" [HPO:probinson]"
HP:0008528,Long hairs growing from helix of pinna
HP:0008529,"""Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli."" [HPO:probinson]"
HP:0008537,Cleft at the superior portion of the pinna
HP:0008541,Superiorly displaced ears
HP:0008542,"""A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz)."" [HPO:probinson]"
HP:0008544,"""Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape."" [PMID:19152421]"
HP:0008551,"""Underdevelopment of the external ear."" [HPO:probinson, PMID:19152421, PMID:3270622]"
HP:0008554,"""The presence of a malformed cochlea."" [HPO:probinson]"
HP:0008555,"""Complete lack of functioning of the vestibular apparatus."" [HPO:probinson]"
HP:0008559,Hypoplastic superior helix
HP:0008568,"""Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography."" [HPO:probinson, PMID:26918204]"
HP:0008569,"""Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear."" [eom:ae27d9699faef13a, PMID:19152421]"
HP:0008572,"""A malformation of the auricle of the ear."" [HPO:probinson]"
HP:0008573,"""A form of sensorineural hearing impairment that affects primarily the lower frequencies."" [HPO:probinson]"
HP:0008577,"""Underdevelopment of the helix that either affects the entire helix, or is localized."" [PMID:19152421]"
HP:0008583,"""A condition in which the superior portion of the helix is folded over to a lesser degree than normal."" [HPO:probinson]"
HP:0008586,"""Developmental hypoplasia of the cochlea."" [HPO:probinson]"
HP:0008587,"""The presence of a mild form of sensorineural hearing impairment."" [HPO:probinson]"
HP:0008588,"""A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit."" [PMID:12843316]"
HP:0008589,"""Underdevelopment of the helix, i.e., of the outer rim of the pinna."" [HPO:curators]"
HP:0008591,"""A type of conductive deafness with congenital onset."" [HPO:probinson]"
HP:0008593,"""Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix."" [HPO:curators, PMID:19152421]"
HP:0008596,"""A form of sensorineural hearing impairment with onset after the acquisition of speech."" [HPO:probinson]"
HP:0008598,"""A mild form of conductive hearing impairment."" [HPO:probinson]"
HP:0008605,Unilateral external ear deformity
HP:0008606,"""Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit."" [HPO:sdoelken]"
HP:0008607,"""A progressive type of conductive deafness."" [HPO:probinson]"
HP:0008608,Hypertrophic auricular cartilage
HP:0008609,"""An abnormality of the morphology or structure of the middle ear."" [DDD:mbitner-glidicz]"
HP:0008610,"""A form of sensorineural hearing impairment with infantile onset."" [HPO:probinson]"
HP:0008615,"""The presence of sensorineural deafness with late onset."" [HPO:probinson]"
HP:0008619,"""A bilateral form of sensorineural hearing impairment."" [HPO:probinson]"
HP:0008625,"""A severe form of sensorineural hearing impairment."" [HPO:probinson]"
HP:0008628,"""An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear."" [HPO:probinson]"
HP:0008629,"""Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation."" [PMID:23885280]"
HP:0008631,"""A developmental anomaly of the ureter."" [HPO:probinson]"
HP:0008633,"""Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females)."" []"
HP:0008635,"""Abnormal enlargement of the urinary bladder."" [HPO:probinson]"
HP:0008636,Lobular glomerulopathy
HP:0008639,Gonadal hypoplasia
HP:0008640,Congenital macroorchidism
HP:0008643,"""Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood."" [HPO:probinson, PMID:10707720]"
HP:0008647,Pubertal developmental failure in females
HP:0008648,Anteriorly displaced urethral meatus
HP:0008651,Uric acid urolithiasis independent of gout
HP:0008652,"""Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system."" [HPO:probinson]"
HP:0008653,"""A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation."" [Eurenomics:ewuehl]"
HP:0008655,"""Aplasia or developmental hypoplasia of the fallopian tube."" [HPO:probinson]"
HP:0008656,Incomplete male pseudohermaphroditism
HP:0008659,"""The presence of many cysts in the medulla of the kidney."" [Eurenomics:ewuehl]"
HP:0008660,"""A developmental defect characterized by absence or poor development of proximal renal tubules."" [HPO:probinson]"
HP:0008661,"""Abnormal narrowing of the urethra."" [HPO:probinson]"
HP:0008663,"""A sarcoma of the kidney."" [HPO:probinson]"
HP:0008664,Urethral sphincter sclerosis
HP:0008665,"""Hypertrophy of the clitoris."" [HPO:probinson]"
HP:0008666,Impaired histidine renal tubular absorption
HP:0008668,"""Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation."" [HPO:sdoelken]"
HP:0008669,"""Incomplete maturation or aberrant formation of the male gametes."" [HPO:probinson, MP:0001156]"
HP:0008670,Partial vaginal septum
HP:0008672,"""The presence of calcium- and oxalate-containing calculi (stones) in the kidneys."" [HPO:probinson]"
HP:0008675,Enlarged polycystic ovaries
HP:0008676,"""A developmental disturbance with extreme ureteral dilatation."" [HPO:probinson]"
HP:0008677,"""Nephrotic syndrome with onset within the first three months of life."" [Eurenomics:fschaefer]"
HP:0008678,"""Absence or underdevelopment of the kidney."" [HPO:probinson]"
HP:0008682,"""Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%)."" [HPO:probinson]"
HP:0008683,"""Increase in size of the folds of skin between the outer labia."" [HPO:probinson]"
HP:0008684,"""Absence or developmental hypoplasia of the uterus."" [HPO:probinson]"
HP:0008687,Hypoplasia of the prostate
HP:0008689,"""Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum."" [HPO:probinson]"
HP:0008691,"""Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder."" [Eurenomics:fschaefer]"
HP:0008695,Transient nephrotic syndrome
HP:0008696,"""A disordered proliferation of mature tissues that are native to the kidneys."" [DDD:rscott, HPO:probinson]"
HP:0008697,"""Developmental hypoplasia of the fallopian tube."" [HPO:probinson]"
HP:0008702,Absent internal genitalia
HP:0008703,"""Deposition of calcium salts in gonadal tissue."" [HPO:probinson]"
HP:0008705,Ureteral triplication
HP:0008706,Distal urethral duplication
HP:0008707,"""Congenital absence of the scrotum."" [HPO:probinson]"
HP:0008708,Partial development of the penile shaft
HP:0008711,"""The presence of non-malignant hyperplasia of the prostate."" [HPO:probinson]"
HP:0008714,Ureterovesical stenosis
HP:0008715,Testicular dysgenesis
HP:0008716,"""The presence of a fistula between the vagina and the urethra."" [HPO:probinson]"
HP:0008717,"""A unilateral form of atrophy of the kidney."" [HPO:probinson]"
HP:0008718,"""A unilateral form of developmental dysplasia of the kidney."" [HPO:probinson]"
HP:0008720,Primary testicular failure
HP:0008722,"""The presence of a diverticulum (sac or pouch) in the wall of the urethra."" [HPO:curators]"
HP:0008723,"""Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation."" [HPO:sdoelken]"
HP:0008724,"""Developmental hypoplasia of the ovary."" [HPO:probinson]"
HP:0008726,"""Developmental hypoplasia of the vagina."" [HPO:probinson]"
HP:0008729,Absence of labia majora
HP:0008730,"""The presence of female external genitalia in a person with a male karyotype."" [HPO:probinson]"
HP:0008732,"""Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion."" [PMID:22392950, PMID:30180816]"
HP:0008733,Dysplastic testes
HP:0008734,"""Reduced volume of the testicle (the male gonad)."" [HPO:probinson]"
HP:0008736,Hypoplasia of penis
HP:0008738,"""The presence of a partially duplicated kidney."" [HPO:probinson]"
HP:0008739,Labial pseudohypertrophy
HP:0008740,"""The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication."" [HPO:curators]"
HP:0008742,Prominent prostate median bar
HP:0008743,"""A mild form of hypospadias in which the urethra opens just under the corona glandis."" [HPO:probinson]"
HP:0008744,"""An abnormality of the aryepiglottic fold."" [HPO:probinson]"
HP:0008747,"""Ossification affecting the set of cartilages of larynx."" [HPO:probinson]"
HP:0008749,"""Underdevelopment of the larynx."" [HPO:probinson]"
HP:0008750,"""Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present."" [HPO:probinson, PMID:10517457, PMID:17715321]"
HP:0008751,"""Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus."" [HPO:probinson, PMID:17178945]"
HP:0008752,"""A malformation of the laryngeal cartilage."" [HPO:probinson]"
HP:0008753,"""Absence of the epiglottis."" [HPO:probinson]"
HP:0008754,"""Calcification (abnormal deposits of calcium) in the laryngeal tissues."" [HPO:probinson]"
HP:0008755,Laryngotracheomalacia
HP:0008756,"""Bowing (abnormal curvature) of the vocal folds."" [HPO:probinson]"
HP:0008757,"""A loss of the ability to move the vocal fold on one side."" [HPO:probinson]"
HP:0008760,Violent behavior
HP:0008762,Repetitive compulsive behavior
HP:0008763,No social interaction
HP:0008765,"""The false perception of sound."" []"
HP:0008767,Self-mutilation of tongue and lips due to involuntary movements
HP:0008768,Inappropriate sexual behavior
HP:0008770,"""The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant."" [HPO:curators]"
HP:0008771,"""The presence of aplasia or developmental hypoplasia of the ear."" [HPO:probinson]"
HP:0008772,"""The presence of aplasia or developmental hypoplasia of all or part of the external ear."" [HPO:probinson]"
HP:0008773,"""Aplasia or developmental hypoplasia of all or part of the middle ear."" [HPO:probinson]"
HP:0008774,"""Aplasia or developmental hypoplasia of the inner ear."" [HPO:probinson]"
HP:0008775,"""An abnormality of the prostate."" [HPO:probinson]"
HP:0008776,"""Any structural abnormality of the renal artery."" [HPO:probinson]"
HP:0008777,"""An abnormality of the vocal cord."" [HPO:probinson]"
HP:0008780,Congenital bilateral hip dislocation
HP:0008783,"""Increased width of the proximal part of the shaft (metaphysis) of the femur."" [HPO:probinson]"
HP:0008784,"""Abnormally wide morphology of the proximal epiphysis of the femur."" [HPO:probinson]"
HP:0008785,"""Delayed maturation and calcification of the rami (branches) of the pubic bone."" [HPO:probinson]"
HP:0008786,"""Irregularities of the iliac crest that produce the appearance of a lace border around it."" [HPO:probinson]"
HP:0008788,"""Delayed maturation and calcification of the pubic bone."" [HPO:probinson]"
HP:0008789,"""A cone-shaped deformity of the proximal epiphysis of the femur."" [HPO:probinson]"
HP:0008794,"""A general term that describes a congenital defect in the iliac wing resulting from abnormal development."" []"
HP:0008796,"""An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing)."" []"
HP:0008797,"""Developmental acceleration of ossification of the proximal epiphysis of the femur."" [HPO:probinson]"
HP:0008798,"""The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch."" [HPO:probinson]"
HP:0008800,"""A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip."" [HPO:probinson]"
HP:0008801,"""Underdevelopment of the lesser trochanter."" [HPO:probinson]"
HP:0008802,"""Underdevelopment of the femoral head."" [HPO:probinson]"
HP:0008804,"""Increased width of the femoral head."" [HPO:probinson]"
HP:0008807,"""A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain."" [HPO:probinson, ORCID:0000-0002-6670-9157, PMID:23764788, PMID:34377520]"
HP:0008808,"""Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)."" [HPO:probinson]"
HP:0008812,"""An abnormally flattened femoral head."" [HPO:probinson]"
HP:0008817,Aplastic pubic bones
HP:0008818,"""Increased size of the ilium ala."" [HPO:probinson]"
HP:0008819,"""An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)."" [HPO:probinson]"
HP:0008820,"""Lack of ossification of the proximal epiphysis of the femur."" [HPO:probinson]"
HP:0008821,Hypoplastic inferior ilia
HP:0008822,"""Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium."" [HPO:probinson]"
HP:0008823,Hypoplastic inferior pubic rami
HP:0008824,"""Underdevelopment of the body of ilium."" [HPO:probinson]"
HP:0008826,"""Joint dislocation of the femoral head."" [HPO:probinson]"
HP:0008828,"""Developmental delay of ossification of the proximal epiphysis of the femur."" [HPO:probinson]"
HP:0008829,"""Delayed ossification of the femoral head."" [HPO:probinson]"
HP:0008830,Hypoplastic pubic rami
HP:0008833,Irregular acetabular roof
HP:0008835,"""There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers."" [HPO:probinson]"
HP:0008838,Stippled calcification proximal humeral epiphyses
HP:0008839,"""Underdevelopment of the bony pelvis."" [HPO:probinson]"
HP:0008843,Hip osteoarthritis
HP:0008845,"""A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg)."" [HPO:probinson]"
HP:0008846,"""Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age."" [HPO:probinson]"
HP:0008848,"""A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex."" [DDD:hfirth]"
HP:0008850,"""Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms."" [DDD:hfirth]"
HP:0008855,"""A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms."" [DDD:hfirth]"
HP:0008857,"""A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth."" [HPO:probinson]"
HP:0008866,"""Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections."" [https://en.wikipedia.org/wiki/Failure_to_thrive]"
HP:0008872,"""Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention."" [HPO:probinson]"
HP:0008873,"""A type of disproportionate short stature characterized by a short limbs but an average-sized trunk."" [HPO:probinson]"
HP:0008883,"""Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age."" [DDD:hfirth]"
HP:0008887,"""A loss of adipose tissue."" [HPO:probinson]"
HP:0008890,Severe short-limb dwarfism
HP:0008897,"""Slow or limited growth after birth."" [DDD:hfirth]"
HP:0008905,"""Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)."" [HPO:probinson]"
HP:0008909,Lethal short-limbed short stature
HP:0008915,"""Truncal obesity with onset during childhood, defined as between 2 and 10 years of age."" [HPO:probinson]"
HP:0008921,"""A type of short-limbed dwarfism that is manifest beginning in the neonatal period."" [HPO:probinson]"
HP:0008922,"""A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood."" [HPO:probinson]"
HP:0008929,Asymmetric short stature
HP:0008935,"""Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature."" [HPO:probinson]"
HP:0008936,"""Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk."" [HPO:curators]"
HP:0008940,"""A generalized form of lymphadenopathy."" [HPO:probinson]"
HP:0008942,"""An acute form of rhabdomyolysis."" [HPO:probinson]"
HP:0008944,"""Muscular atrophy of distal leg muscles."" [HPO:probinson]"
HP:0008945,Loss of ability to walk in early childhood
HP:0008946,"""Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle."" [HPO:probinson]"
HP:0008947,"""Muscular hypotonia (abnormally low muscle tone) manifesting in infancy."" [HPO:curators]"
HP:0008948,"""Muscular atrophy affecting proximally located muscles of the arms."" [HPO:curators]"
HP:0008952,"""Underdevelopment of muscles of the shoulder."" [HPO:probinson]"
HP:0008953,"""Underdevelopment of the pectoralis major."" [HPO:probinson]"
HP:0008954,"""Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles."" [HPO:probinson]"
HP:0008955,"""Progressive muscular atrophy affecting muscles in the distal portions of the extremities."" [HPO:curators]"
HP:0008956,"""Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh."" [HPO:probinson]"
HP:0008959,"""Reduced strength of the distal musculature of the arms."" [HPO:probinson]"
HP:0008962,"""Underdevelopment of the muscuklature of the calf."" [HPO:probinson]"
HP:0008963,"""Muscle weakness affecting the tibialis anterior muscle."" [HPO:probinson]"
HP:0008964,"""Muscular atrophy that does not display a progression in severity with time."" [HPO:curators]"
HP:0008967,"""A type of muscle stiffness that occurs following physical exertion."" [HPO:probinson]"
HP:0008968,"""Muscle hypertrophy primarily affecting the legs."" [HPO:curators]"
HP:0008969,Leg muscle stiffness
HP:0008970,Scapulohumeral muscular dystrophy
HP:0008972,"""Decreased activity of the mitochondrial respiratory chain."" [HPO:probinson]"
HP:0008978,Necrotizing myopathy
HP:0008981,"""Muscle hypertrophy affecting the calf muscles."" [HPO:curators]"
HP:0008984,"""Underdevelopment of muscles of the neck."" [HPO:curators]"
HP:0008985,"""An abnormal increase in the amount of intramuscular fat tissue."" [HPO:curators]"
HP:0008986,"""Congenital lack, i.e., aplasia of the diaphragm."" [HPO:probinson]"
HP:0008988,"""Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles)."" [HPO:curators]"
HP:0008991,"""Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion."" [HPO:probinson]"
HP:0008993,"""An abnormal increase in the amount of intraabdominal fat tissue."" [HPO:curators]"
HP:0008994,"""A lack of strength of the proximal muscles of the legs."" [HPO:probinson]"
HP:0008997,"""A lack of strength of the proximal muscles of the arms."" [HPO:probinson]"
HP:0008998,"""Underdevelopment of the pectoral muscle."" [HPO:probinson]"
HP:0009002,"""Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk."" [HPO:probinson]"
HP:0009003,"""The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body."" [HPO:curators]"
HP:0009004,"""Underdevelopment of the musculature."" [HPO:sdoelken]"
HP:0009005,Weakness of the intrinsic hand muscles
HP:0009007,"""Underdevelopment of the biceps muscle."" [HPO:curators]"
HP:0009011,"""Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula."" [HPO:curators]"
HP:0009013,Congenital absence of gluteal muscles
HP:0009016,"""Underdevelopment of muscles of the arm."" [HPO:curators]"
HP:0009017,"""Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region."" [HPO:probinson]"
HP:0009019,Progressive loss of facial adipose tissue
HP:0009020,"""An abnormally increased tendency towards muscle fatigue induced by physical exercise."" [HPO:curators]"
HP:0009023,"""Decreased strength of the abdominal musculature."" [HPO:probinson]"
HP:0009025,"""The presence of an abnormally increased amount of connective tissue."" [HPO:curators]"
HP:0009026,"""Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula."" [HPO:curators]"
HP:0009027,"""Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles."" [HPO:probinson]"
HP:0009028,"""Generalized weakness of the muscles of the arms and legs."" [HPO:curators]"
HP:0009031,"""Atrophy of the muscles of the ankle."" [HPO:probinson]"
HP:0009037,Segmental spinal muscular atrophy
HP:0009045,"""Rhabdomyolysis induced by exercise."" [HPO:probinson]"
HP:0009046,"""Reduced ability to run."" [HPO:probinson]"
HP:0009049,"""Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius)."" [HPO:probinson]"
HP:0009050,"""Muscular atrophy involving the quadriceps muscle."" [HPO:curators]"
HP:0009051,"""An increased amount of glycogen in muscle tissue."" [HPO:probinson]"
HP:0009053,"""Reduced strength of the distal musculature of the legs."" [HPO:probinson]"
HP:0009054,Scapuloperoneal myopathy
HP:0009055,"""Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations."" [HPO:probinson]"
HP:0009056,Loss of subcutaneous adipose tissue from upper limbs
HP:0009058,"""An abnormal accumulation of lipids in skeletal muscle."" [HPO:probinson, PMID:20691590]"
HP:0009059,Congenital generalized lipodystrophy
HP:0009060,"""Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle."" [HPO:curators]"
HP:0009062,"""Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy."" [HPO:curators]"
HP:0009063,"""Progressively reduced strength of the distal musculature."" [HPO:curators]"
HP:0009064,"""Generalized degenerative changes of the fat tissue."" [HPO:curators]"
HP:0009067,"""Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem."" [HPO:curators]"
HP:0009069,Lethal infantile mitochondrial myopathy
HP:0009071,"""Chronic muscle inflammation accompanied by muscle weakness."" [PMID:19349710]"
HP:0009072,"""Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed."" [HPO:probinson]"
HP:0009073,"""Lack of strength of the proximal muscles that becomes progressively more severe."" [HPO:probinson]"
HP:0009077,Weakness of long finger extensor muscles
HP:0009084,Midline notch of upper alveolar ridge
HP:0009085,"""Increased width of the alveolar ridges."" [PMID:19125428]"
HP:0009087,Posteriorly placed tongue
HP:0009088,"""Impairment in the physical production of speech sounds."" [HPO:probinson]"
HP:0009092,Progressive alveolar ridge hypertropy
HP:0009094,Cleft lower alveolar ridge
HP:0009098,"""Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx."" []"
HP:0009099,"""Cleft palate of the midline of the palate."" [HPO:probinson]"
HP:0009100,Thick anterior alveolar ridges
HP:0009101,"""A cleft of the lip with overlying mucous membrane."" [HPO:probinson]"
HP:0009102,"""Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion."" [HPO:ibailleulforestier, PMID:27615261]"
HP:0009103,Aplasia/Hypoplasia involving the pelvis
HP:0009104,"""Absence or underdevelopment of the pubic bone."" [HPO:probinson]"
HP:0009105,"""Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis."" [HPO:probinson]"
HP:0009106,"""An abnormality of the formation and mineralization of any bone of the bony pelvis."" [HPO:probinson]"
HP:0009107,Abnormal ossification involving the femoral head and neck
HP:0009108,Aplasia/Hypoplasia involving the femoral head and neck
HP:0009109,"""Interruption of the innervation of the diaphragm."" [HPO:probinson]"
HP:0009110,"""A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development."" [HPO:curators]"
HP:0009112,"""Congenital absence of the left half of the diaphragm."" [HPO:probinson]"
HP:0009113,"""A decrease in the strength of the diaphragm."" [HPO:probinson, PMID:2509822]"
HP:0009115,"""Absence (due to failure to form) or underdevelopment of one or more components of the skeleton."" [HPO:probinson]"
HP:0009116,Aplasia/Hypoplasia involving bones of the skull
HP:0009117,"""Absence or underdevelopment of the maxilla."" [HPO:probinson]"
HP:0009118,"""Absence or underdevelopment of the mandible."" [HPO:probinson]"
HP:0009119,"""Absence or underdevelopment of frontal sinus."" [HPO:probinson]"
HP:0009120,"""Absence or underdevelopment of a cranial sinus or sinuses."" [HPO:curators]"
HP:0009121,"""An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum."" [HPO:probinson]"
HP:0009122,"""Absence (due to failure to form) or underdevelopment of bones of the axial skeleton."" [HPO:probinson]"
HP:0009123,Mixed hypo- and hyperpigmentation of the skin
HP:0009124,"""An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes."" [HPO:curators]"
HP:0009125,"""Degenerative changes of the fat tissue."" [HPO:curators]"
HP:0009126,"""An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)."" [HPO:curators]"
HP:0009127,Abnormality of the musculature of the limbs
HP:0009128,Aplasia/Hypoplasia involving the musculature of the extremities
HP:0009129,"""Muscular atrophy involving the muscles of the upper limbs."" [HPO:probinson]"
HP:0009130,"""Muscular atrophy involving the muscles of the hand."" [HPO:curators]"
HP:0009131,"""A disease or lesion affecting the muscles of the thorax."" [HPO:curators]"
HP:0009132,"""This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone."" [HPO:probinson]"
HP:0009134,Osteolysis involving bones of the feet
HP:0009136,Duplication involving bones of the feet
HP:0009138,"""An abnormal union between bones or parts of bones lower limbs."" [HPO:sdoelken]"
HP:0009139,Osteolysis involving bones of the lower limbs
HP:0009140,Synostosis involving bones of the feet
HP:0009141,Depletion of mitochondrial DNA in muscle tissue
HP:0009142,Duplication of bones involving the upper extremities
HP:0009144,Supernumerary bones of the axial skeleton
HP:0009145,"""Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery."" [HPO:probinson]"
HP:0009147,"""Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009148,"""Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009149,"""A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009150,"""Abnormality of the proximal phalanx of the little (5th) finger."" [HPO:curators]"
HP:0009152,"""Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger."" [HPO:sdoelken]"
HP:0009153,"""Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx."" [HPO:curator]"
HP:0009154,"""A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009155,"""A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:curators]"
HP:0009157,"""Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009158,"""Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009159,"""Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009160,"""Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger."" [HPO:curators]"
HP:0009161,"""Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger."" [HPO:curators]"
HP:0009162,"""Absence of the middle phalanx of the little (5th) finger."" [HPO:curators]"
HP:0009164,Abnormal calcification of the carpal bones
HP:0009165,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger."" [HPO:curators]"
HP:0009166,"""Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger."" [HPO:curators]"
HP:0009167,"""Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger."" [HPO:curators]"
HP:0009168,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected."" [HPO:curators]"
HP:0009169,"""Increased width of the middle phalanx of the 5th finger."" [HPO:curators]"
HP:0009170,"""Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger."" [HPO:curators]"
HP:0009171,"""A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals."" [HPO:curators]"
HP:0009172,"""Abnormality of the phalanges of the 4th (ring) finger."" [HPO:curators]"
HP:0009173,"""Curved appearance of the middle phalanx of the 5th finger."" [HPO:curators]"
HP:0009174,"""Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger."" [HPO:curators]"
HP:0009175,"""Patchy increase in bone density of the middle phalanx of the 5th finger."" [HPO:curators]"
HP:0009177,"""Fusion of the proximal and middle phalanges of the 5th finger."" [HPO:curators]"
HP:0009178,"""Fusion of the middle phalanx of the 5th finger with another bone."" [HPO:curator]"
HP:0009179,"""Displacement of the 5th finger from its normal position."" [HPO:sdoelken]"
HP:0009180,"""Displacement of the 5th finger towards the ulnar side."" [HPO:sdoelken]"
HP:0009182,"""Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009183,"""Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected."" [HPO:sdoelken]"
HP:0009184,"""Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue."" [HPO:probinson]"
HP:0009185,"""Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement."" [HPO:probinson]"
HP:0009186,"""Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue."" [HPO:curator]"
HP:0009187,"""An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009188,"""A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009189,"""Fragmented appearance of the epiphyses of the metacarpals."" [HPO:curators]"
HP:0009190,"""Irregular radiographic opacity of the epiphyses of the metacarpals."" [HPO:curators]"
HP:0009191,"""Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009192,"""Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger."" [HPO:curators]"
HP:0009193,"""A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone."" [HPO:doelkens]"
HP:0009194,"""Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms."" [HPO:curators]"
HP:0009195,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals."" [HPO:probinson]"
HP:0009196,"""Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals."" [HPO:curators]"
HP:0009197,"""An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009198,"""Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx."" [HPO:curators]"
HP:0009199,"""Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger."" [HPO:curators]"
HP:0009200,"""A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009201,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger."" [HPO:curators]"
HP:0009202,"""Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger."" [HPO:curators]"
HP:0009203,"""Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger."" [HPO:curators]"
HP:0009204,"""An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009205,"""A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:curators]"
HP:0009206,"""Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009207,"""Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger."" [HPO:curators]"
HP:0009208,"""Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger."" [HPO:curators]"
HP:0009209,"""Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009210,"""A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009211,"""Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009212,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger."" [HPO:curators]"
HP:0009213,"""A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009214,"""Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger."" [HPO:curators]"
HP:0009215,"""An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009216,"""A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:curators]"
HP:0009217,"""Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009218,"""Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger."" [HPO:curators]"
HP:0009219,"""Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger."" [HPO:curators]"
HP:0009220,"""Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009221,"""A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009222,"""Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009223,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger."" [HPO:curators]"
HP:0009224,"""A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009225,"""Absence of the proximal phalanx of the little (5th) finger."" [HPO:curators]"
HP:0009226,"""Hypoplastic/small proximal phalanx of the fifth finger."" [HPO:skoehler]"
HP:0009227,"""Increased width of the proximal phalanx of the 5th finger."" [HPO:curators]"
HP:0009228,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected."" [HPO:curators]"
HP:0009229,"""Curved appearance of the proximal phalanx of the 5th finger."" [HPO:curators]"
HP:0009230,"""Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger."" [HPO:curators]"
HP:0009231,"""Patchy increase in bone density of the proximal phalanx of the 5th finger."" [HPO:curators]"
HP:0009232,"""Fusion of the proximal phalanx of the 5th finger with another bone."" [HPO:curators]"
HP:0009233,"""Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [PMID:24432108]"
HP:0009234,"""Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal."" [HPO:curators]"
HP:0009236,"""Rhomboid or triangular shaped 5th (little) finger proximal phalanx."" [HPO:curators]"
HP:0009237,"""Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger."" [HPO:sdoelken]"
HP:0009238,"""Absent 5th (little) finger."" [HPO:curators]"
HP:0009239,Aplasia/Hypoplasia of the distal phalanx of the 5th finger
HP:0009240,"""Increased width of the distal phalanx of the 5th finger."" [HPO:curators]"
HP:0009241,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected."" [HPO:curators]"
HP:0009242,"""Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger."" [HPO:curators]"
HP:0009243,"""Patchy increase in bone density of the distal phalanx of the 5th finger."" [HPO:curators]"
HP:0009244,"""Fusion of the terminal/distal and middle phalanges of the 5th finger."" [HPO:curators]"
HP:0009245,"""Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009246,"""Absence of the distal phalanx of the little (5th) finger."" [HPO:curators]"
HP:0009247,Abnormality of the epiphysis of the middle phalanx of the 4th finger
HP:0009248,Abnormality of the epiphysis of the proximal phalanx of the 4th finger
HP:0009249,Abnormality of the epiphysis of the distal phalanx of the 4th finger
HP:0009250,"""Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger."" [HPO:curators]"
HP:0009251,"""An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009252,"""A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:curators]"
HP:0009253,"""Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009254,"""Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger."" [HPO:curators]"
HP:0009255,"""Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger."" [HPO:curators]"
HP:0009256,"""Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009257,"""A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009258,"""Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009259,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger."" [HPO:curators]"
HP:0009260,"""A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009261,"""Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger."" [HPO:curators]"
HP:0009262,"""An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009263,"""A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:curators]"
HP:0009264,"""Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009265,"""Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger."" [HPO:curators]"
HP:0009266,"""Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger."" [HPO:curators]"
HP:0009267,"""Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009268,"""A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009269,"""Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009270,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger."" [HPO:curators]"
HP:0009271,"""A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009272,"""A small/hypoplastic or absent/aplastic 4th (ring) finger."" [HPO:curators]"
HP:0009273,"""Displacement of the 4th finger from its normal position."" [HPO:curators]"
HP:0009274,"""Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected."" [HPO:probinson]"
HP:0009275,"""Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue."" [HPO:probinson]"
HP:0009276,"""Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement."" [HPO:probinson]"
HP:0009277,"""Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue."" [HPO:curators]"
HP:0009278,"""Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger)."" [HPO:sdoelken]"
HP:0009279,"""Displacement of the 4th finger towards the radial side (i.e., towards the thumb)."" [HPO:sdoelken]"
HP:0009280,"""Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger."" [HPO:sdoelken]"
HP:0009281,"""Absent 4th finger."" [HPO:curators]"
HP:0009282,Abnormality of the distal phalanx of the 4th finger
HP:0009283,Abnormality of the middle phalanx of the 4th finger
HP:0009284,Abnormality of the proximal phalanx of the 4th finger
HP:0009285,"""Curved appearance of the phalanges of the 4th (ring) finger."" [HPO:curators]"
HP:0009286,"""Curved appearance of the distal phalanx of the 4th (ring) finger."" [HPO:curators]"
HP:0009287,"""Curved appearance of the middle phalanx of the 4th (ring) finger."" [HPO:curators]"
HP:0009288,Curved proximal phalanx of the 4th finger
HP:0009289,Aplasia/Hypoplasia of the distal phalanx of the 4th finger
HP:0009290,"""Hypoplastic/small distal phalanx of the fourth finger."" [HPO:sdoelken]"
HP:0009291,"""Absence of the distal phalanx of the ring (4th) finger."" [HPO:curators]"
HP:0009292,"""Increased width of the distal phalanx of the 4th finger."" [HPO:curators]"
HP:0009293,"""Increased width of the middle phalanx of the 4th finger."" [HPO:curators]"
HP:0009294,"""Absence of the middle phalanx of the ring (4th) finger."" [HPO:curators]"
HP:0009295,"""Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger."" [HPO:sdoelken]"
HP:0009296,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected."" [HPO:curators]"
HP:0009297,"""Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger."" [HPO:curators]"
HP:0009298,"""Absence of the proximal phalanx of the ring (4th) finger."" [HPO:curators]"
HP:0009299,Aplasia/Hypoplasia of the middle phalanx of the 4th finger
HP:0009300,Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
HP:0009301,"""Hypoplastic/small proximal phalanx of the fourth finger."" [HPO:sdoelken]"
HP:0009302,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected."" [HPO:curators]"
HP:0009303,"""Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger."" [HPO:curators]"
HP:0009304,"""Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger."" [HPO:probinson]"
HP:0009305,"""Fusion of the terminal/distal and middle phalanges of the 4th finger."" [HPO:curators]"
HP:0009306,"""Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009307,"""Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger."" [HPO:probinson]"
HP:0009308,"""Fusion of the middle phalanx of the 4th finger with another bone."" [HPO:sdoelken]"
HP:0009309,"""Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009310,"""Increased width of the proximal phalanx of the 4th finger."" [HPO:curators]"
HP:0009311,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected."" [HPO:curators]"
HP:0009312,"""Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger."" [HPO:curators]"
HP:0009313,"""Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger."" [HPO:probinson]"
HP:0009314,"""Fusion of the proximal phalanx of the 4th finger with another bone."" [HPO:curators]"
HP:0009315,"""Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009316,"""Abnormality of the phalanges of the 3rd (middle) finger."" [HPO:curators]"
HP:0009317,"""Displacement of the 3rd finger from its normal position."" [HPO:curators]"
HP:0009318,"""A small/hypoplastic or absent/aplastic 3rd (middle) finger."" [HPO:curators]"
HP:0009319,"""Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected."" [HPO:probinson]"
HP:0009320,"""Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger."" [HPO:curators]"
HP:0009321,"""Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger."" [HPO:curators]"
HP:0009322,"""An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009323,"""A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:curators]"
HP:0009324,"""Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009325,"""Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger."" [HPO:curators]"
HP:0009326,"""Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger."" [HPO:curators]"
HP:0009327,"""Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009328,"""A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009329,"""Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009330,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger."" [HPO:curators]"
HP:0009331,"""A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009332,Abnormality of the epiphysis of the distal phalanx of the 3rd finger
HP:0009333,Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
HP:0009334,Abnormality of the epiphysis of the middle phalanx of the 3rd finger
HP:0009335,"""Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009336,"""An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009337,"""A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:curators]"
HP:0009338,"""Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009339,"""Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009340,"""Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009341,"""Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009342,"""A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009343,"""Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009344,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009345,"""A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009346,"""Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009347,"""An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009348,"""A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:curators]"
HP:0009349,"""Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009350,"""Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009351,"""Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009352,"""Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009353,"""A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009354,"""Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009355,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009356,"""A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009357,Abnormality of the distal phalanx of the 3rd finger
HP:0009358,Abnormality of the proximal phalanx of the 3rd finger
HP:0009370,Type A brachydactyly
HP:0009371,Type A1 brachydactyly
HP:0009372,Type A2 brachydactyly
HP:0009373,Type C brachydactyly
HP:0009374,"""Increased width of the phalanges of the 5th finger."" [HPO:curators]"
HP:0009375,"""A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:curators]"
HP:0009376,"""Aplasia/Hypoplasia of the phalanges of the 5th finger."" [HPO:curators]"
HP:0009377,"""Uneven increase in bone density of one or more of the phalanges of the 5th finger."" [HPO:probinson]"
HP:0009378,"""Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009379,"""Rhomboid or triangular shaped 5th (little) finger distal phalanx."" [HPO:curators]"
HP:0009380,"""Aplasia of one or more fingers."" [HPO:curators]"
HP:0009381,"""Abnormally short finger associated with developmental hypoplasia."" [HPO:probinson]"
HP:0009382,"""Absence of one or more epiphyses of the 5th finger."" [HPO:curators]"
HP:0009383,"""An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [PMID:24432108]"
HP:0009384,"""A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx."" [HPO:curators]"
HP:0009385,"""Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009386,"""Fragmented appearance of the epiphyses of the 5th finger."" [HPO:curators]"
HP:0009387,"""Irregular radiographic opacity of the epiphyses of the 5th finger."" [HPO:curators]"
HP:0009388,"""Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009389,"""A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009390,"""Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009391,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger."" [HPO:curators]"
HP:0009392,"""A triangular appearance of the epiphyses of the 5th finger of the hand."" [HPO:curators]"
HP:0009393,"""Absence of one or more epiphyses of the 4th finger."" [HPO:curators]"
HP:0009394,"""An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [PMID:24432108]"
HP:0009395,"""A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx."" [HPO:curators]"
HP:0009396,"""Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009397,"""Fragmented appearance of the epiphyses of the 4th finger."" [HPO:curators]"
HP:0009398,"""Irregular radiographic opacity of the epiphyses of the 4th finger."" [HPO:curators]"
HP:0009399,"""Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009400,"""A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009401,"""Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009402,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger."" [HPO:curators]"
HP:0009403,"""A triangular appearance of the epiphyses of the 4th finger of the hand."" [HPO:curators]"
HP:0009404,"""Increased width of the phalanges of the 4th finger."" [HPO:curators]"
HP:0009405,"""A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:curators]"
HP:0009406,"""Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger."" [HPO:probinson]"
HP:0009407,"""Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009408,Aplasia/Hypoplasia of the phalanges of the 4th finger
HP:0009410,"""Absence of the epiphyses of the 3rd finger."" [HPO:curators]"
HP:0009411,"""An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [PMID:24432108]"
HP:0009412,"""A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx."" [HPO:curators]"
HP:0009413,"""Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009414,"""Fragmented appearance of the epiphyses of the 3rd finger."" [HPO:curators]"
HP:0009415,"""Irregular radiographic opacity of the epiphyses of the 3rd finger."" [HPO:curators]"
HP:0009416,"""Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009417,"""A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009418,"""Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009419,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger."" [HPO:curators]"
HP:0009420,"""A triangular appearance of the epiphyses of the 3rd finger of the hand."" [HPO:curators]"
HP:0009421,Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
HP:0009422,"""Increased width of the distal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009423,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected."" [HPO:curators]"
HP:0009424,"""Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009425,"""Uneven (irregular) increase in bone density of the distal phalanx of the third finger."" [HPO:probinson]"
HP:0009426,"""Fusion of the terminal/distal and middle phalanges of the 3rd finger."" [HPO:curators]"
HP:0009427,"""Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009428,"""Curved appearance of the distal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009429,"""Absence of the distal phalanx of the middle (3rd) finger."" [HPO:curators]"
HP:0009430,"""Increased width of the middle phalanx of the 3rd finger."" [HPO:curators]"
HP:0009431,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected."" [HPO:curators]"
HP:0009432,"""Curved appearance of the middle phalanx of the 3rd (middle) finger."" [HPO:curators]"
HP:0009433,"""Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger."" [HPO:curators]"
HP:0009434,"""Uneven (irregular) increase in bone density of the middle phalanx of the third finger."" [HPO:probinson]"
HP:0009435,"""Fusion of the middle phalanx of the 3rd finger with another bone."" [HPO:curators]"
HP:0009436,"""Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009437,Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
HP:0009438,"""Absence of the middle phalanx of the middle (3rd) finger."" [HPO:sdoelken]"
HP:0009439,"""Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger."" [HPO:sdoelken]"
HP:0009440,"""Increased width of the phalanges of the 3rd finger."" [HPO:curators]"
HP:0009441,"""A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:curators]"
HP:0009442,"""Curved appearance of the phalanges of the 3rd finger."" [HPO:curators]"
HP:0009443,"""Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger."" [HPO:curators]"
HP:0009444,"""Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger."" [HPO:probinson]"
HP:0009445,"""Fusion of two or more bones of the 3rd finger."" [HPO:curators]"
HP:0009446,"""Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009447,Aplasia/Hypoplasia of the phalanges of the 3rd finger
HP:0009450,"""Increased width of the proximal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009451,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected."" [HPO:curators]"
HP:0009452,"""Curved appearance of the proximal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009453,"""Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009454,"""Uneven (irregular) increase in bone density of the proximal phalanx of the third finger."" [HPO:probinson]"
HP:0009455,"""Fusion of the proximal phalanx of the 3rd finger with another bone."" [HPO:curators]"
HP:0009456,"""Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009457,Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
HP:0009458,"""Absence of the proximal phalanx of the 3rd finger."" [HPO:curators]"
HP:0009459,"""Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger."" [HPO:sdoelken]"
HP:0009460,"""Absent 3rd finger."" [HPO:curators]"
HP:0009461,"""Hypoplastic/small 3rd (middle) finger."" [HPO:sdoelken]"
HP:0009462,"""Displacement of the 3rd finger towards the radial side (i.e., towards the thumb)."" [HPO:sdoelken]"
HP:0009463,"""Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger)."" [HPO:sdoelken]"
HP:0009464,"""Displacement of the 2nd (index) finger towards the ulnar side."" [HPO:curators]"
HP:0009465,"""Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly."" [HPO:probinson, PMID:19125433]"
HP:0009466,"""Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly."" [HPO:probinson, PMID:19125433]"
HP:0009467,"""Displacement of the 2nd finger towards the radial side."" [HPO:curators]"
HP:0009468,"""Displacement of the 2nd finger from its normal position."" [HPO:curators]"
HP:0009469,"""Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue."" [HPO:probinson]"
HP:0009470,"""Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue."" [HPO:curators]"
HP:0009471,"""Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue."" [HPO:curators]"
HP:0009473,"""Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue."" [HPO:sdoelken]"
HP:0009477,"""Fusion of the proximal and middle phalanges of the 4th finger."" [HPO:sdoelken]"
HP:0009478,"""Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal."" [HPO:curators]"
HP:0009482,"""Fusion of the proximal and middle phalanges of the 3rd finger."" [HPO:curators]"
HP:0009483,"""Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal."" [HPO:curators]"
HP:0009484,"""Displacement of the hand or of fingers of the hand from their normal position."" [HPO:curators]"
HP:0009485,Radial deviation of the hand or of fingers of the hand
HP:0009486,"""An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)."" [HPO:probinson]"
HP:0009487,"""Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger)."" [HPO:probinson, PMID:19125433]"
HP:0009488,"""Absence of the epiphyses of the 2nd finger."" [HPO:curators]"
HP:0009489,"""An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [PMID:24432108]"
HP:0009490,"""A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx."" [HPO:curators]"
HP:0009491,"""Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009492,"""Fragmented appearance of the epiphyses of the 2nd finger."" [HPO:curators]"
HP:0009493,"""Irregular radiographic opacity of the epiphyses of the 2nd finger."" [HPO:curators]"
HP:0009494,"""Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009495,"""A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009496,"""Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009497,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger."" [HPO:curators]"
HP:0009498,"""A triangular appearance of the epiphyses of the 2nd finger of the hand."" [HPO:curators]"
HP:0009499,Abnormality of the epiphysis of the distal phalanx of the 2nd finger
HP:0009500,Abnormality of the epiphysis of the middle phalanx of the 2nd finger
HP:0009501,Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
HP:0009502,"""Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009503,"""An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009504,"""A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:curators]"
HP:0009505,"""Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009506,"""Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009507,"""Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009508,"""Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0009509,"""A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009510,"""Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms."" [HPO:curators]"
HP:0009511,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009512,"""A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009513,Absent epiphysis of the middle phalanx of the 2nd finger
HP:0009514,"""An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009515,Cone-shaped epiphysis of the middle phalanx of the 2nd finger
HP:0009516,Enlarged epiphysis of the middle phalanx of the 2nd finger
HP:0009517,Fragmentation of the epiphysis of the middle phalanx of the 2nd finger
HP:0009518,Irregular epiphysis of the middle phalanx of the 2nd finger
HP:0009519,Ivory epiphysis of the middle phalanx of the 2nd finger
HP:0009520,"""A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009521,Small epiphysis of the middle phalanx of the 2nd finger
HP:0009522,Stippling of the epiphysis of the middle phalanx of the 2nd finger
HP:0009523,Triangular epiphysis of the middle phalanx of the 2nd finger
HP:0009524,Absent epiphysis of the proximal phalanx of the 2nd finger
HP:0009525,"""An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:curators]"
HP:0009526,Cone-shaped epiphysis of the proximal phalanx of the 2nd finger
HP:0009527,Enlarged epiphysis of the proximal phalanx of the 2nd finger
HP:0009528,Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
HP:0009529,Irregular epiphysis of the proximal phalanx of the 2nd finger
HP:0009530,Ivory epiphysis of the proximal phalanx of the 2nd finger
HP:0009531,"""A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0009532,Small epiphysis of the proximal phalanx of the 2nd finger
HP:0009533,Stippling of the epiphysis of the proximal phalanx of the 2nd finger
HP:0009534,Triangular epiphysis of the proximal phalanx of the 2nd finger
HP:0009535,"""Absent 2nd (index) finger."" [HPO:curators]"
HP:0009536,"""Hypoplasia of the second finger, also known as the index finger."" [HPO:sdoelken]"
HP:0009537,"""Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected."" [HPO:curators]"
HP:0009538,"""Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue."" [HPO:probinson]"
HP:0009539,"""Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue."" [HPO:curators]"
HP:0009540,"""Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue."" [HPO:probinson]"
HP:0009541,"""Abnormality of the phalanges of the 2nd (index) finger."" [HPO:curators]"
HP:0009542,Abnormality of the distal phalanx of the 2nd finger
HP:0009543,Abnormality of the middle phalanx of the 2nd finger
HP:0009544,Abnormality of the proximal phalanx of the 2nd finger
HP:0009545,Symphalangism of the 2nd finger
HP:0009546,"""Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009547,Broad phalanges of the 2nd finger
HP:0009548,"""A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0009549,Curved phalanges of the 2nd finger
HP:0009550,Osteolytic defects of the phalanges of the 2nd finger
HP:0009551,"""Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger."" [HPO:probinson]"
HP:0009552,Aplasia/Hypoplasia of the phalanges of the 2nd finger
HP:0009553,"""The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair."" [HPO:probinson]"
HP:0009554,"""An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones."" [HPO:probinson]"
HP:0009555,"""Underdevelopment of the pharynx."" [HPO:curators]"
HP:0009556,"""Absence of the tibia."" [HPO:probinson]"
HP:0009557,Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
HP:0009558,"""Increased width of the distal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009559,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected."" [HPO:curators]"
HP:0009560,"""Curved appearance of the distal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009561,"""Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009562,"""Uneven (irregular) increase in bone density of the distal phalanx of the second finger."" [HPO:probinson]"
HP:0009563,"""Fusion of the terminal/distal and middle phalanges of the 2nd finger."" [HPO:curators]"
HP:0009564,"""Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009565,Aplasia of the distal phalanx of the 2nd finger
HP:0009566,"""Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger."" [HPO:probinson]"
HP:0009568,Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
HP:0009569,"""Increased width of the middle phalanx of the second finger."" [HPO:sdoelken]"
HP:0009570,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected."" [HPO:curators]"
HP:0009571,"""Curved appearance of the middle phalanx of the 2nd finger."" [HPO:curators]"
HP:0009572,"""Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger."" [HPO:curators]"
HP:0009573,"""Uneven (irregular) increase in bone density of the middle phalanx of the second finger."" [HPO:probinson]"
HP:0009574,"""Fusion of the middle phalanx of the 2nd finger with another bone."" [HPO:curators]"
HP:0009575,"""Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009576,"""Absence of the middle phalanx of the index (2nd) finger."" [HPO:curators]"
HP:0009577,"""Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger."" [HPO:sdoelken]"
HP:0009579,"""Fusion of the proximal and middle phalanges of the 2nd finger."" [HPO:curators]"
HP:0009580,Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
HP:0009581,"""Increased width of the proximal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009582,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected."" [HPO:curators]"
HP:0009583,"""Curved appearance of the proximal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009584,"""Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009585,"""Uneven (irregular) increase in bone density of the proximal phalanx of the second finger."" [HPO:probinson]"
HP:0009586,"""Fusion of the proximal phalanx of the 2nd finger with another bone."" [HPO:curators]"
HP:0009587,"""Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:curators]"
HP:0009588,"""A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear."" [HPO:probinson]"
HP:0009589,"""A bilateral vestibular Schwannoma (acoustic neurinoma)."" [HPO:curators]"
HP:0009590,"""A unilateral vestibular Schwannoma (acoustic neurinoma)."" [HPO:curators]"
HP:0009591,"""Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain."" [HPO:probinson]"
HP:0009592,"""Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma."" [HPO:curators]"
HP:0009593,"""The presence of a peripheral schwannoma."" [HPO:probinson]"
HP:0009594,"""A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina."" [HPO:probinson]"
HP:0009595,"""Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1."" [HPO:curators]"
HP:0009596,"""Absence of the proximal phalanx of the 2nd finger."" [HPO:curators]"
HP:0009597,"""Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger."" [HPO:sdoelken]"
HP:0009598,"""Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal."" [HPO:curators]"
HP:0009599,"""Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal."" [HPO:probinson]"
HP:0009600,"""Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected."" [HPO:probinson]"
HP:0009601,"""Hypoplastic/small or absent thumb."" [HPO:probinson]"
HP:0009602,"""A structural anomaly of one or more phalanges of the thumb."" [HPO:probinson]"
HP:0009603,"""Displacement of the thumb from its normal position."" [HPO:curators]"
HP:0009606,"""Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side."" [HPO:curators]"
HP:0009608,"""Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:probinson]"
HP:0009609,"""Partail or complete duplication of the first metacarpal bone."" [HPO:probinson]"
HP:0009611,"""Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones."" [HPO:sdoelken]"
HP:0009612,"""Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side."" [HPO:sdoelken]"
HP:0009613,"""Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:sdoelken]"
HP:0009614,"""This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:probinson]"
HP:0009615,"""Complete duplication of the first metacarpal bone."" [HPO:probinson]"
HP:0009616,"""Partial duplication of the first metacarpal bone."" [HPO:probinson]"
HP:0009617,"""Any anomaly of the distal phalanx of thumb."" [HPO:probinson]"
HP:0009618,"""An anomaly of the shape or form of the proximal phalanx of the thumb."" [HPO:curators]"
HP:0009622,"""Insertion of thumb at a more distal location than normal."" [HPO:probinson]"
HP:0009623,"""Proximal mislocalization of the thumb."" [HPO:probinson, PMID:19125433]"
HP:0009624,"""Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint."" [HPO:probinson]"
HP:0009625,"""Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis."" [HPO:probinson]"
HP:0009626,"""Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis."" [HPO:probinson]"
HP:0009629,"""This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:curators]"
HP:0009630,"""Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:curators]"
HP:0009631,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected."" [HPO:probinson]"
HP:0009632,"""A deviation from the normal straight shape of the proximal phalanx of the thumb."" [HPO:probinson]"
HP:0009633,"""Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb."" [HPO:probinson]"
HP:0009634,"""An uneven increase in bone density of the proximal phalanx of the thumb."" [HPO:probinson]"
HP:0009635,"""Fusion of a phalanx of the thumb with another bone."" [HPO:probinson]"
HP:0009636,"""Triangular shaped proximal phalanx of the thumb."" [HPO:probinson]"
HP:0009637,"""Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:probinson]"
HP:0009638,"""Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:probinson]"
HP:0009640,"""Fusion of the proximal phalanx of the thumb with the 1st metacarpal."" [HPO:probinson, PMID:26571461]"
HP:0009641,Aplasia/Hypoplasia of the distal phalanx of the thumb
HP:0009642,"""Increased width of the distal phalanx of thumb."" [HPO:sdoelken]"
HP:0009643,"""Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected."" [HPO:probinson]"
HP:0009644,"""A deviation from the normal straight shape of the distal phalanx of the thumb."" [HPO:probinson]"
HP:0009645,"""Dissolution or degeneration of bone tissue of the distal phalanx of the thumb."" [HPO:probinson]"
HP:0009646,"""An uneven increase in bone density of the distal phalanx of the thumb."" [HPO:probinson]"
HP:0009648,"""Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."" [HPO:probinson]"
HP:0009649,"""Absence of the distal/terminal phalanx of the thumb."" [HPO:curators]"
HP:0009650,"""Hypoplastic (short) distal phalanx of the thumb."" [HPO:sdoelken]"
HP:0009652,"""An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0009653,"""A deviation from the normal straight shape of a thumb phalanx."" [HPO:probinson]"
HP:0009654,"""Dissolution or degeneration of bone tissue of one or more phalanges of the thumb."" [HPO:probinson]"
HP:0009655,"""An uneven increase in bone density of one or more of the phalanges of the thumb."" [HPO:probinson]"
HP:0009656,"""Congenital fusion (ankylosis) of the interphalangeal joint of the thumb."" [HPO:probinson, PMID:22379556]"
HP:0009657,"""Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle."" [HPO:probinson]"
HP:0009658,Aplasia/Hypoplasia of the phalanges of the thumb
HP:0009659,"""The absence of a phalangeal segment of a thumb."" [PMID:probinson]"
HP:0009660,"""Hypoplastic (short) thumb phalanx."" [HPO:probinson]"
HP:0009662,"""Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx."" [HPO:curators]"
HP:0009663,"""This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:curators]"
HP:0009664,"""Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:curators]"
HP:0009665,"""An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:probinson]"
HP:0009666,"""A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:probinson]"
HP:0009667,"""Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:curators]"
HP:0009668,"""Epiphysis of the proximal phalanx of the thumb having multiple bony fragments."" [HPO:probinson]"
HP:0009669,"""Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:curators]"
HP:0009670,"""Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:probinson]"
HP:0009671,"""A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb."" [HPO:probinson]"
HP:0009672,"""Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms."" [HPO:probinson]"
HP:0009673,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:probinson]"
HP:0009674,"""A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:curators]"
HP:0009675,"""Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb."" [HPO:curators]"
HP:0009676,"""An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:probinson]"
HP:0009677,"""A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."" [HPO:probinson]"
HP:0009678,"""Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms."" [HPO:curators]"
HP:0009679,"""Epiphysis of the distal phalanx of the thumb having multiple bony fragments."" [HPO:probinson]"
HP:0009680,"""Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb."" [HPO:probinson]"
HP:0009681,"""Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:probinson]"
HP:0009682,"""A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb."" [HPO:probinson]"
HP:0009683,"""Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms."" [HPO:probinson]"
HP:0009684,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb."" [HPO:probinson]"
HP:0009685,"""A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."" [HPO:curators]"
HP:0009686,"""Absence of one or more epiphyses of the thumb."" [HPO:curators]"
HP:0009687,"""An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [PMID:24432108]"
HP:0009688,"""A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx."" [HPO:probinson]"
HP:0009689,"""Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms."" [HPO:probinson]"
HP:0009690,"""Epiphysis of the thumb having multiple bony fragments."" [HPO:probinson]"
HP:0009691,"""Uneven radiographic opacity of the one or more epiphyses of the thumb."" [HPO:probinson]"
HP:0009692,"""Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:probinson]"
HP:0009693,"""A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb."" [HPO:probinson]"
HP:0009694,"""Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms."" [HPO:probinson]"
HP:0009695,"""The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb."" [HPO:probinson]"
HP:0009696,Triangular epiphyses of the thumb
HP:0009697,"""Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers."" [HPO:probinson]"
HP:0009699,Osteolytic defects of the hand bones
HP:0009700,"""An abnormal union between bones or parts of bones of the fingers. The synonymous term \""symphalangism of the hand\"" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \""Symphalangism\"" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \""bony\"" Syndactyly."" [HPO:sdoelken]"
HP:0009701,"""Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)."" [HPO:probinson]"
HP:0009702,"""Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform)."" [HPO:probinson]"
HP:0009703,"""Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:curators]"
HP:0009704,"""Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter."" [HPO:probinson]"
HP:0009705,Synostosis involving the 2nd metacarpal
HP:0009706,Synostosis involving the 3rd metacarpal
HP:0009707,Synostosis involving the 4th metacarpal
HP:0009708,Synostosis involving the 5th metacarpal
HP:0009709,"""Increased concentration of interferon alpha in the cerebrospinal fluid (CSF)."" [HPO:curators]"
HP:0009710,"""Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks."" [HPO:probinson, PMID:1832531, PMID:22025653]"
HP:0009711,"""A benign vascular tumor of the retina without any neoplastic characteristics."" [HPO:probinson]"
HP:0009713,"""A hemangioblastoma of the spinal cord."" [HPO:curators]"
HP:0009714,"""An abnormality of the epididymis."" [HPO:probinson]"
HP:0009715,"""A cystadenoma, an epithelial tumor, that originates within the head of the epididymis."" [HPO:probinson, PMID:24441657]"
HP:0009716,"""Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis."" [HPO:probinson, ORCID:0000-0002-1735-8178]"
HP:0009717,"""Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients."" [HPO:curators]"
HP:0009718,"""A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis."" [HPO:curators]"
HP:0009719,"""Hypomelanotic macules (\""ash leaf spots\"") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis."" [HPO:probinson, PMID:10695583]"
HP:0009720,"""The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin."" [HPO:probinson]"
HP:0009721,"""A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather."" [HPO:curators, PMID:10695583]"
HP:0009722,"""The presence of small depressions in the dental enamel."" [HPO:curators]"
HP:0009723,"""A lesion located beneath a fingernail or toenail."" [HPO:curators]"
HP:0009724,"""The presence of fibromata beneath finger or toenails."" [HPO:curators]"
HP:0009725,"""The presence of a neoplasm of the urinary bladder."" [HPO:probinson]"
HP:0009726,"""The presence of a neoplasm of the kidney."" [HPO:probinson]"
HP:0009727,"""Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina."" [HPO:probinson, PMID:11264130]"
HP:0009728,"""A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle."" [HPO:sdoelken]"
HP:0009729,"""A benign tumor of cardiac striated muscle."" [HPO:curators]"
HP:0009730,"""A benign tumor of striated muscle."" [HPO:probinson]"
HP:0009731,"""The presence of a hamartoma of the cerebrum."" [HPO:probinson]"
HP:0009732,"""A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure."" [HPO:curators]"
HP:0009733,"""The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes)."" [HPO:probinson]"
HP:0009734,"""A glioma originating in the optic nerve or optic chiasm."" [HPO:curators]"
HP:0009735,"""Neurofibromas originating in the spine."" [HPO:probinson]"
HP:0009736,"""Pseudarthrosis, or \""false joint\"" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life."" [HPO:probinson, PMID:30996736]"
HP:0009737,"""The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.."" [HPO:probinson]"
HP:0009738,"""An abnormality of the antihelix."" [HPO:probinson]"
HP:0009739,"""Developmental hypoplasia of the antihelix."" [HPO:probinson]"
HP:0009740,"""Absence of the parotid gland."" [HPO:curators]"
HP:0009741,"""Nephrosclerosis refers to thickening or scarring (\""sclerosis\"") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries."" [HPO:curators]"
HP:0009742,"""Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity."" [HPO:probinson]"
HP:0009743,"""Double rows of eyelashes."" [HPO:probinson]"
HP:0009744,"""An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord."" [HPO:curators]"
HP:0009745,"""Presence of arachnoid cysts of the spinal canal extradurally in the epidural space."" [HPO:probinson]"
HP:0009746,"""Abnormally increased thickness of the nasal septum."" [HPO:curators]"
HP:0009747,"""Abnormally increased hair growth in the lumbosacral region."" [HPO:curators]"
HP:0009748,"""Increased volume of the earlobe, that is, abnormally prominent ear lobules."" [HPO:probinson, PMID:19152421]"
HP:0009751,"""Absence of the pectoralis major muscle."" [HPO:curators]"
HP:0009752,"""A bony defect in the skull base."" [HPO:curators]"
HP:0009754,"""Complete or nearly complete soft tissue fusion of the alveolar ridges."" [PMID:19125428]"
HP:0009755,"""Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue."" [PMID:18125427]"
HP:0009756,"""A pterygium (or pterygia) occurring in the popliteal region (the back of the knee)."" [HPO:probinson]"
HP:0009757,"""A pterygium (or pterygia) in the intercrural (groin) region."" [HPO:curators]"
HP:0009758,"""Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome."" [HPO:curators]"
HP:0009759,"""Pterygia affecting the neck."" [HPO:curators]"
HP:0009760,"""Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric."" [HPO:probinson]"
HP:0009761,"""Anterior schisis (cleft or cleavage) of vertebral bodies."" [HPO:probinson]"
HP:0009762,"""Excessive wrinkling of the skin of the face."" [HPO:curators]"
HP:0009763,"""Chronic pain in the limbs with no clear focal etiology."" [HPO:probinson]"
HP:0009765,"""Columella extending inferior to the level of the nasal base, when viewed from the side."" [PMID:19152422]"
HP:0009767,"""Small or missing phalangeal bones of the fingers of the hand."" [HPO:probinson]"
HP:0009768,"""Increased width of the phalanges of the hand."" [HPO:curators]"
HP:0009769,"""The presence of short and wide phalanges which taper distally (\""bullet shaped\"")."" [HPO:curators]"
HP:0009770,Curved phalanges of the hand
HP:0009771,"""Dissolution or degeneration of bone tissue of the phalanges of the hand."" [HPO:curators]"
HP:0009772,"""Uneven (irregular) increase in bone density of one or more of the phalanges of the hand."" [HPO:probinson]"
HP:0009773,"""Fusion of two or more phalangeal bones of the hand."" [HPO:curators]"
HP:0009774,Triangular shaped phalanges of the hand
HP:0009775,"""Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands."" [HPO:probinson]"
HP:0009776,"""The absence of all phalanges of all the digits of a limb and the associated soft tissues."" [PMID:19125433]"
HP:0009777,"""Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues."" [HPO:probinson, PMID:19125433]"
HP:0009778,"""Hypoplasia (congenital reduction in size) of the thumb."" [HPO:probinson]"
HP:0009779,"""Syndactyly with fusion of toes three and four."" [HPO:sdoelken]"
HP:0009780,"""Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic."" [HPO:curators]"
HP:0009781,"""A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape."" [HPO:probinson]"
HP:0009782,"""Absence or underdevelopment of the biceps muscle."" [HPO:curators]"
HP:0009783,"""Absence of the biceps muscle."" [HPO:curators]"
HP:0009784,"""Absence or underdevelopment of the triceps muscle."" [HPO:curators]"
HP:0009785,"""Absence of the triceps muscle."" [HPO:curators]"
HP:0009786,"""Absence or underdevelopment involving the musculature of the thigh."" [HPO:curators]"
HP:0009787,"""Absence or underdevelopment of the quadriceps muscle."" [HPO:curators]"
HP:0009788,"""Absence of the quadriceps muscle."" [HPO:curators]"
HP:0009789,"""The presence of an abscess located around the anus."" [HPO:curators]"
HP:0009790,"""A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5."" [HPO:probinson]"
HP:0009791,"""Presence of a bifid sacral bone."" [HPO:probinson]"
HP:0009792,"""The presence of a teratoma."" [HPO:probinson]"
HP:0009793,"""A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV)."" [HPO:probinson]"
HP:0009794,"""Congenital developmental defect arising from the primitive branchial apparatus."" [HPO:sdoelken]"
HP:0009795,"""A congenital fistula in the neck resulting from incomplete closure of a branchial cleft."" [HPO:sdoelken]"
HP:0009796,"""A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region."" [HPO:sdoelken]"
HP:0009797,"""Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear."" [HPO:curators]"
HP:0009798,"""A goiter that is not associated with functional thyroid abnormalities."" [HPO:probinson]"
HP:0009799,"""The presence of two or more accessory spleens."" [HPO:curators]"
HP:0009800,"""Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes."" [HPO:probinson]"
HP:0009802,"""Absence of one or more of the phalanges of the hand."" [HPO:curators]"
HP:0009803,"""Short (hypoplastic) phalanx of finger, affecting one or more phalanges."" [HPO:sdoelken]"
HP:0009804,"""The absence of one or more teeth from the normal series by a failure\nto develop"" [HPO:sdoelken, PMID:31468724]"
HP:0009805,"""A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes."" [HPO:curators]"
HP:0009806,"""A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP)."" [HPO:curators]"
HP:0009808,"""A structural abnormality of a diaphysis of the arm."" [UToronto:htrang]"
HP:0009809,"""An anomaly of one or more metaphyses of the arms."" [HPO:probinson]"
HP:0009810,Abnormality of upper limb joint
HP:0009811,"""An anomaly of the joint that connects the upper and the lower arm."" [HPO:probinson]"
HP:0009812,"""Amelia of one or both upper limbs."" [HPO:curators]"
HP:0009813,"""Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)."" [HPO:probinson]"
HP:0009814,"""Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation."" [HPO:sdoelken]"
HP:0009815,"""Absence (due to failure to form) or underdevelopment of the extremities."" [HPO:probinson]"
HP:0009816,"""Leg shortening because of underdevelopment of one or more bones of the lower extremity."" [HPO:probinson]"
HP:0009817,Aplasia involving bones of the lower limbs
HP:0009818,"""Amelia of one or both legs."" [HPO:curators]"
HP:0009819,"""Phocomelia affecting only the lower limbs."" [HPO:sdoelken]"
HP:0009820,"""Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation."" [HPO:sdoelken]"
HP:0009821,"""Forearm shortening because of underdevelopment of one or more bones of the forearm."" [HPO:probinson]"
HP:0009822,Aplasia involving forearm bones
HP:0009823,Aplasia involving bones of the upper limbs
HP:0009824,"""Arm shortening because of underdevelopment of one or more bones of the upper extremity."" [HPO:probinson]"
HP:0009825,Aplasia involving bones of the extremities
HP:0009826,"""Limb shortening because of underdevelopment of one or more bones of the extremities."" [HPO:probinson]"
HP:0009827,"""Congenital absence (aplasia) of one or more limbs."" [HPO:sdoelken]"
HP:0009828,"""The distal parts of the limbs are missing leading to a stump formation."" [HPO:probinson]"
HP:0009829,"""Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)."" [HPO:probinson]"
HP:0009830,"""Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course."" [HPO:sdoelken]"
HP:0009831,"""A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution."" [HPO:probinson]"
HP:0009832,"""Any anomaly of distal phalanx of finger."" [HPO:probinson]"
HP:0009833,"""An anomaly of middle phalanx of finger."" [HPO:probinson]"
HP:0009834,Abnormal proximal phalanx morphology of the hand
HP:0009835,"""Absence or underdevelopment of the distal phalanges."" [HPO:curators]"
HP:0009836,"""Abnormally wide (broad) distal phalanx of finger."" [HPO:sdoelken]"
HP:0009837,"""Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" []"
HP:0009838,Curved distal phalanges of the hand
HP:0009839,Osteolytic defects of the distal phalanges of the hand
HP:0009840,"""Uneven (irregular) increase in bone density of the distal phalanges of the hand."" [HPO:probinson]"
HP:0009843,Aplasia/Hypoplasia of the middle phalanges of the hand
HP:0009844,"""Increased width of the middle phalanx of finger."" [HPO:probinson]"
HP:0009845,"""Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0009846,Curved middle phalanges of the hand
HP:0009847,Osteolytic defects of the middle phalanges of the hand
HP:0009848,"""Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand."" [HPO:probinson]"
HP:0009849,"""Fusion of a middle phalanx of a finger with another bone."" [HPO:probinson]"
HP:0009850,Triangular shaped middle phalanges of the hand
HP:0009851,Aplasia/Hypoplasia of the proximal phalanges of the hand
HP:0009852,"""Increased width of the proximal phalanges of the finger."" [HPO:probinson]"
HP:0009853,"""Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:curators]"
HP:0009854,Curved proximal phalanges of the hand
HP:0009855,Osteolytic defects of the proximal phalanges of the hand
HP:0009856,"""Uneven increase in bone density of the proximal phalanges of the hand."" [HPO:probinson]"
HP:0009857,Symphalangism affecting the proximal phalanges of the hand
HP:0009858,Triangular shaped proximal phalanges of the hand
HP:0009875,Triangular shaped distal phalanges of the hand
HP:0009878,"""The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight)."" [HPO:curators]"
HP:0009879,"""An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly."" [COST:neuromig, HPO:probinson, PMID:22427329]"
HP:0009880,"""Abnormally wide (broad) distal phalanx of finger of all fingers."" [HPO:probinson]"
HP:0009881,Aplasia of the distal phalanges of the hand
HP:0009882,"""Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger."" [HPO:probinson, PMID:19125433]"
HP:0009883,"""This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."" [HPO:sdoelken]"
HP:0009884,"""A reduction in diameter of the distal phalanx of finger towards the distal end."" [HPO:probinson]"
HP:0009886,"""Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair."" [HPO:curators]"
HP:0009887,"""An abnormality of hair pigmentation (color)."" [HPO:curators]"
HP:0009888,"""Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair."" [HPO:curators]"
HP:0009889,"""Abnormally increased hair growth with a localized distribution."" [HPO:curators]"
HP:0009890,"""Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella."" [PMID:19125436]"
HP:0009891,"""Flatness of the supraorbital portion of the frontal bones."" [HPO:curators, PMID:19125436]"
HP:0009892,"""Complete absence of any auricular structures."" [HPO:probinson, PMID:19125421]"
HP:0009893,"""The presence of telangiectasia of the ear."" [HPO:probinson]"
HP:0009894,"""Increased thickness of the external ear."" []"
HP:0009895,"""An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear."" [HPO:probinson]"
HP:0009896,"""An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch."" [HPO:probinson]"
HP:0009897,"""An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly."" [HPO:probinson, PMID:19152421]"
HP:0009898,"""Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average."" [HPO:probinson, PMID:19152421]"
HP:0009899,"""The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix."" [HPO:probinson, PMID:19152421]"
HP:0009900,"""A unilateral absence of sensory perception of sound."" [HPO:probinson]"
HP:0009901,"""Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds."" [PMID:19152421]"
HP:0009902,"""A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length."" [HPO:probinson, PMID:19152421]"
HP:0009903,"""Presence of nodules in the conjunctiva of the eye."" [HPO:probinson]"
HP:0009904,"""Abnormally prominent ear helix."" [HPO:probinson]"
HP:0009905,"""Decreased thickness of the helix of the ear."" [HPO:probinson]"
HP:0009906,"""Absence or underdevelopment of the ear lobes."" [HPO:curators]"
HP:0009907,"""Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward."" [PMID:19152421]"
HP:0009908,"""Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe."" [PMID:19152421]"
HP:0009909,"""An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly."" [HPO:probinson, PMID:19152421]"
HP:0009910,"""Absence of the middle ear ossicles, malleus, incus, and stapes."" [HPO:probinson]"
HP:0009911,"""Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple."" [HPO:probinson]"
HP:0009912,"""An abnormality of the tragus."" [HPO:probinson]"
HP:0009913,"""Aplasia or developmental hypoplasia of the tragus."" [HPO:probinson]"
HP:0009914,"""Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose."" [DDD:ncarter]"
HP:0009915,"""The presence of a size difference between the left and right cornea."" [HPO:probinson]"
HP:0009916,"""Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease."" [HPO:probinson]"
HP:0009917,"""The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil."" [HPO:probinson]"
HP:0009918,"""A malposition of the pupil owing to a developmental defect of the iris."" [DDD:gblack, HPO:probinson]"
HP:0009919,"""A tumor of the eye originating from cells of the retina."" [HPO:curators]"
HP:0009920,"""A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera."" [PMID:14673306]"
HP:0009921,"""A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction"" [HPO:probinson]"
HP:0009922,"""Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth."" [HPO:probinson, PMID:23772130]"
HP:0009924,"""Underdevelopment or absence of the nose or parts thereof."" [HPO:curators]"
HP:0009926,"""Abnormally increased lacrimation, that is, excessive tearing (watering eye)."" [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123, PMID:28003974]"
HP:0009927,"""Complete absence of all nasal structures."" [HPO:probinson]"
HP:0009928,"""Increase in bulk of the ala nasi."" [PMID:19152422]"
HP:0009929,"""A structural abnormality of the columella."" [HPO:probinson]"
HP:0009930,"""Asymmetry or size difference between the left and right nostril."" [HPO:probinson]"
HP:0009931,"""Increased aperture of the nostril."" [PMID:19152422]"
HP:0009932,"""The presence of only a single nostril."" [PMID:19152422]"
HP:0009933,"""Slender, slit-like aperture of the nostril."" [HPO:probinson]"
HP:0009934,"""The presence of more than two nostrils."" [PMID:19152422]"
HP:0009935,"""Absence or underdevelopment of the nasal septum."" [HPO:curators]"
HP:0009936,"""Abnormally narrow nasal septum."" [HPO:probinson]"
HP:0009937,"""Excess facial hair."" [HPO:curators]"
HP:0009938,"""Lack or loss of the soft tissues between the zygomata and mandible."" [PMID:19125436]"
HP:0009939,"""Absence of the mandible."" [HPO:curators]"
HP:0009940,"""Lack of symmetry between the left and right mandible."" [HPO:probinson]"
HP:0009941,"""The presence of an asymmetric mouth."" [HPO:probinson]"
HP:0009942,"""Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:sdoelken]"
HP:0009943,"""A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism."" [HPO:probinson]"
HP:0009944,"""A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."" [HPO:probinson]"
HP:0009945,"""This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."" [HPO:curators]"
HP:0009946,Polydactyly affecting the 2nd finger
HP:0009947,"""Partial or complete duplication of the second proximal phalanx of hand."" [HPO:probinson]"
HP:0009948,"""Partial or complete duplication of the distal phalanx of index finger."" [HPO:probinson]"
HP:0009949,"""Partial or complete duplication of the middle phalanx of index finger."" [HPO:probinson]"
HP:0009950,"""Complete duplication of the distal phalanx of index finger."" [HPO:probinson]"
HP:0009951,"""Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken, PMID:29864040]"
HP:0009952,"""Complete duplication of the middle phalanx of index finger."" [HPO:probinson]"
HP:0009953,"""Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009954,"""Complete duplication of the second proximal phalanx of hand."" [HPO:probinson]"
HP:0009955,"""Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009956,"""A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."" [HPO:curators]"
HP:0009957,"""A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism."" [HPO:curators]"
HP:0009958,Polydactyly affecting the 3rd finger
HP:0009959,"""This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."" [HPO:sdoelken]"
HP:0009960,"""A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism."" [HPO:curators]"
HP:0009961,"""A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."" [HPO:curators]"
HP:0009962,"""Partial or complete duplication of the distal phalanx of middle finger."" [HPO:probinson]"
HP:0009963,"""Partial or complete duplication of the middle phalanx of middle finger."" [HPO:probinson]"
HP:0009964,"""Partial or complete duplication of the third proximal phalanx of hand."" [HPO:probinson]"
HP:0009965,"""Complete duplication of the distal phalanx of middle finger"" [HPO:probinson]"
HP:0009966,"""Complete duplication of the middle phalanx of middle finger."" [HPO:probinson]"
HP:0009967,"""Complete duplication of the third proximal phalanx of hand."" [HPO:probinson]"
HP:0009968,"""Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009969,"""Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009970,"""Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009971,Polydactyly affecting the 4th finger
HP:0009972,"""This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."" [HPO:sdoelken]"
HP:0009973,"""A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism."" [HPO:curators]"
HP:0009974,"""A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."" [HPO:curators]"
HP:0009975,"""Partial or complete duplication of the distal phalanx of ring finger."" [HPO:probinson]"
HP:0009976,"""Partial or complete duplication of the middle phalanx of ring finger."" [HPO:probinson]"
HP:0009977,"""Partial or complete duplication of the fourth proximal phalanx of hand."" [HPO:probinson]"
HP:0009978,"""Complete duplication of the distal phalanx of ring finger."" [HPO:probinson]"
HP:0009979,"""Complete duplication of the middle phalanx of ring finger."" [HPO:probinson]"
HP:0009980,"""Complete duplication of the fourth proximal phalanx of hand."" [HPO:probinson]"
HP:0009981,"""Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009982,"""Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009983,"""Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009985,"""This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."" [HPO:sdoelken]"
HP:0009986,"""A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism."" [HPO:curators]"
HP:0009987,"""A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."" [HPO:curators]"
HP:0009988,"""Partial or complete duplication of the distal phalanx of little finger."" [HPO:probinson]"
HP:0009989,"""Partial or complete duplication of the fifth middle phalanx of hand."" [HPO:probinson]"
HP:0009990,"""Partial or complete duplication of the fifth proximal phalanx of hand."" [HPO:probinson]"
HP:0009991,"""Complete duplication of the distal phalanx of little finger."" [HPO:probinson]"
HP:0009992,"""Complete duplication of the fifth middle phalanx of hand."" [HPO:probinson]"
HP:0009993,"""Complete duplication of the fifth proximal phalanx of hand."" [HPO:probinson]"
HP:0009994,"""Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009995,"""Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009996,"""Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx."" [HPO:sdoelken]"
HP:0009997,"""This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."" [HPO:sdoelken]"
HP:0009998,"""A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism."" [HPO:curators]"
HP:0009999,"""A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."" [HPO:curators]"
HP:0010000,"""A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism."" [HPO:curators]"
HP:0010001,"""A complete duplication affecting one or more of the distal phalanges of the hand."" [HPO:sdoelken]"
HP:0010002,"""A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism."" [HPO:sdoelken]"
HP:0010003,"""A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."" [HPO:curators]"
HP:0010004,"""A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."" [HPO:curators]"
HP:0010005,"""A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."" [HPO:curators]"
HP:0010006,"""This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."" [HPO:sdoelken]"
HP:0010008,"""This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."" [HPO:sdoelken]"
HP:0010009,"""A structural anomaly of the first metacarpal."" [HPO:probinson]"
HP:0010010,"""Any abnormality of the second metacarpal bone."" [HPO:curators]"
HP:0010011,"""Any abnormality of the third metacarpal bone."" [HPO:curators]"
HP:0010012,"""Any abnormality of the fourth metacarpal bone."" [HPO:curators]"
HP:0010013,"""Any abnormality of the fifth metacarpal bone."" [HPO:curators]"
HP:0010014,"""In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays."" [HPO:curators]"
HP:0010015,Absent epiphysis of the 1st metacarpal
HP:0010016,"""An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate."" [HPO:probinson, PMID:24432108]"
HP:0010017,"""A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance."" [HPO:probinson]"
HP:0010018,"""Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms."" [HPO:probinson]"
HP:0010019,"""Epiphysis of the 1st metacarpal having multiple bony fragments."" [HPO:probinson]"
HP:0010020,"""Uneven radiographic opacity of the epiphysis of the 1st metacarpal."" [HPO:probinson]"
HP:0010021,"""The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs."" [HPO:probinson]"
HP:0010022,"""The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal."" [HPO:probinson]"
HP:0010023,"""Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms."" [HPO:probinson]"
HP:0010024,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone."" [HPO:probinson]"
HP:0010025,Triangular epiphysis of the 1st metacarpal
HP:0010026,"""Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)."" [HPO:curators]"
HP:0010027,"""Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."" [HPO:curators]"
HP:0010028,"""The presence of short and wide 1st metacarpal which tapers distally (\""bullet shaped\"")."" [HPO:probinson]"
HP:0010029,"""A deviation from the normal straight shape of the first metacarpal."" [HPO:probinson]"
HP:0010030,"""Dissolution or degeneration of bone tissue of the 1st metacarpal."" [HPO:probinson]"
HP:0010031,"""Uneven increase in bone density within the 1st metacarpal."" [HPO:probinson]"
HP:0010033,"""This term applies to a triangular shaped 1st metacarpal."" [HPO:probinson]"
HP:0010034,"""A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand."" [HPO:probinson]"
HP:0010035,"""Absent first metacarpal (long bone) of the hand."" [HPO:probinson]"
HP:0010036,"""Aplasia or Hypoplasia affecting the 2nd metacarpal."" [HPO:curators]"
HP:0010037,"""Absence of the second long bone of the hand."" [HPO:curators]"
HP:0010038,"""Short second metacarpal bone because of developmental hypoplasia."" [HPO:probinson]"
HP:0010039,"""Aplasia or Hypoplasia affecting the 3rd metacarpal."" [HPO:curators]"
HP:0010040,"""Absence of the third long bone of the hand."" [HPO:curators]"
HP:0010041,"""Short third metacarpal bone."" [HPO:probinson]"
HP:0010042,"""Aplasia or Hypoplasia affecting the 4th metacarpal."" [HPO:curators]"
HP:0010043,"""Absence of the fourth long bone of the hand."" [HPO:curator]"
HP:0010044,"""Short fourth metacarpal bone."" [HPO:probinson]"
HP:0010045,"""Aplasia or Hypoplasia affecting the 5th metacarpal."" [HPO:curators]"
HP:0010046,"""Absence of the fifth long bone of the hand."" [HPO:curators]"
HP:0010047,"""Short fifth metacarpal bone."" [HPO:probinson]"
HP:0010048,"""Developmental defect associated with absence of one or more metacarpal bones."" [HPO:probinson]"
HP:0010049,"""Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal."" [PMID:19125433]"
HP:0010051,"""Displacement of the big toe from its normal position."" [HPO:curators]"
HP:0010052,"""An abnormal shape or form of the proximal phalanx of the big toe."" [HPO:probinson]"
HP:0010053,Abnormality of the distal phalanx of the hallux
HP:0010054,"""An anomaly of the first metatarsal bone."" [HPO:probinson]"
HP:0010055,"""Visible increase in width of the hallux without an increase in the dorso-ventral dimension."" [PMID:19125433]"
HP:0010056,Abnormality of the epiphyses of the hallux
HP:0010057,Abnormal hallux phalanx morphology
HP:0010058,Aplasia/Hypoplasia of the phalanges of the hallux
HP:0010059,"""An increase in width in one or more phalanges of the big toe."" [HPO:probinson]"
HP:0010060,"""An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010061,"""A deviation from the normal straight form of one or more phalanges of the big toe."" [HPO:probinson]"
HP:0010062,Osteolytic defects of the phalanges of the hallux
HP:0010063,"""Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0010064,Symphalangism affecting the phalanges of the hallux
HP:0010065,Triangular shaped phalanges of the hallux
HP:0010066,"""Partial or complete duplication of one or more phalanx of big toe."" [HPO:probinson]"
HP:0010067,"""Absence or underdevelopment of the first metatarsal bone."" [HPO:probinson]"
HP:0010068,"""Increased side-to-side width of the first metatarsal bone."" [HPO:probinson]"
HP:0010069,"""An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010070,"""A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone."" [HPO:probinson]"
HP:0010071,"""Dissolution or degeneration of bone tissue of the first metatarsal."" [HPO:probinson]"
HP:0010072,Patchy sclerosis of the 1st metatarsal
HP:0010073,Synostosis involving the 1st metatarsal
HP:0010074,Triangular shaped 1st metatarsal
HP:0010075,"""A developmental defect consisting in the duplication of the first metatarsal bone."" [HPO:probinson]"
HP:0010076,Aplasia/Hypoplasia of the distal phalanx of the hallux
HP:0010077,"""An increase in width of the distal phalanx of the big toe."" [HPO:probinson]"
HP:0010078,"""An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010079,"""A deviation from the normal straight form of the distal phalanx of the big toe."" [HPO:probinson]"
HP:0010080,Osteolytic defects of the distal phalanx of the hallux
HP:0010081,Patchy sclerosis of the distal phalanx of the hallux
HP:0010082,Symphalangism affecting the distal phalanx of the hallux
HP:0010083,Triangular shaped distal phalanx of the hallux
HP:0010084,Duplication of the distal phalanx of the hallux
HP:0010085,Aplasia/Hypoplasia of the proximal phalanx of the hallux
HP:0010086,"""Increased width of proximal phalanx of big toe."" [HPO:probinson]"
HP:0010087,"""An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010088,"""A deviation from the normal straight form of the proximal phalanx of the big toe."" [HPO:probinson]"
HP:0010089,Osteolytic defects of the proximal phalanx of the hallux
HP:0010090,Patchy sclerosis of the proximal phalanx of the hallux
HP:0010091,Symphalangism affecting the proximal phalanx of the hallux
HP:0010092,Triangular shaped proximal phalanx of the hallux
HP:0010093,"""Partial or complete duplication of the proximal phalanx of big toe."" [HPO:sdoelken]"
HP:0010094,"""Complete duplication of the proximal phalanx of big toe."" [HPO:sdoelken]"
HP:0010095,"""Partial duplication of the proximal phalanx of big toe."" [HPO:sdoelken]"
HP:0010096,Complete duplication of the distal phalanx of the hallux
HP:0010097,Partial duplication of the distal phalanx of the hallux
HP:0010098,"""A developmental defect consisting in the complete duplication of the first metatarsal bone."" [HPO:probinson]"
HP:0010099,"""A developmental defect consisting in the duplication of part of the first metatarsal bone."" [HPO:probinson]"
HP:0010100,"""Complete duplication of one or more phalanx of big toe."" [HPO:probinson]"
HP:0010101,Partial duplication of the phalanges of the hallux
HP:0010102,Aplasia of the distal phalanx of the hallux
HP:0010103,"""Underdevelopment (hypoplasia) of the distal phalanx of big toe."" [HPO:probinson]"
HP:0010104,"""A developmental defect characterized by the absence of the first metatarsal bone."" [HPO:probinson]"
HP:0010105,"""Short first metatarsal bone."" [HPO:probinson]"
HP:0010106,Aplasia of the proximal phalanx of the hallux
HP:0010107,"""Underdevelopment (hypoplasia) of the proximal phalanx of big toe."" [HPO:probinson]"
HP:0010109,"""Underdevelopment (hypoplasia) of the big toe."" [HPO:probinson]"
HP:0010110,Aplasia of the phalanges of the hallux
HP:0010111,"""Underdevelopment (hypoplasia) of a phalanx of big toe."" [HPO:probinson]"
HP:0010112,"""The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly."" [HPO:probinson]"
HP:0010113,"""Failure to form (agenesis) of one or more epiphyses of the big toe."" [HPO:probinson]"
HP:0010114,Bracket epiphyses of the hallux
HP:0010115,Cone-shaped epiphyses of the hallux
HP:0010116,Enlarged epiphyses of the hallux
HP:0010117,Fragmentation of the epiphyses of the hallux
HP:0010118,Irregular epiphyses of the hallux
HP:0010119,Ivory epiphyses of the hallux
HP:0010120,Pseudoepiphyses of the hallux
HP:0010121,Small epiphyses of the hallux
HP:0010122,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux."" [HPO:curators]"
HP:0010123,Triangular epiphyses of the hallux
HP:0010124,Abnormality of the epiphysis of the distal phalanx of the hallux
HP:0010125,"""In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone."" [HPO:curators]"
HP:0010126,"""In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux."" [HPO:curators]"
HP:0010127,"""Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux."" [HPO:probinson]"
HP:0010128,"""The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form."" [HPO:probinson]"
HP:0010129,Cone-shaped epiphysis of the proximal phalanx of the hallux
HP:0010130,Enlarged epiphysis of the proximal phalanx of the hallux
HP:0010131,Fragmentation of the epiphysis of the proximal phalanx of the hallux
HP:0010132,Irregular epiphysis of the proximal phalanx of the hallux
HP:0010133,Ivory epiphysis of the proximal phalanx of the hallux
HP:0010134,"""A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe."" []"
HP:0010135,Small epiphysis of the proximal phalanx of the hallux
HP:0010136,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux."" [HPO:curators]"
HP:0010137,Triangular epiphysis of the proximal phalanx of the hallux
HP:0010138,"""Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux."" [HPO:probinson]"
HP:0010139,"""The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form."" [HPO:probinson]"
HP:0010140,Cone-shaped epiphysis of the distal phalanx of the hallux
HP:0010141,Enlarged epiphysis of the distal phalanx of the hallux
HP:0010142,Fragmentation of the epiphysis of the distal phalanx of the hallux
HP:0010143,Irregular epiphysis of the distal phalanx of the hallux
HP:0010144,Ivory epiphysis of the distal phalanx of the hallux
HP:0010145,Pseudoepiphysis of the distal phalanx of the hallux
HP:0010146,Small epiphysis of the distal phalanx of the hallux
HP:0010147,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux."" [HPO:curators]"
HP:0010148,Triangular epiphysis of the distal phalanx of the hallux
HP:0010149,"""Failure to form (agenesis) of the epiphysis of the 1st metatarsal."" [HPO:probinson]"
HP:0010150,"""The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form."" [HPO:probinson]"
HP:0010151,"""A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot."" [HPO:curators]"
HP:0010152,Enlarged epiphysis of the 1st metatarsal
HP:0010153,Fragmentation of the epiphysis of the 1st metatarsal
HP:0010154,Irregular epiphysis of the 1st metatarsal
HP:0010155,"""The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs."" [HPO:probinson]"
HP:0010156,Pseudoepiphysis of the 1st metatarsal
HP:0010157,Small epiphysis of the 1st metatarsal
HP:0010158,Stippling of the epiphysis of the 1st metatarsal
HP:0010159,Triangular epiphysis of the 1st metatarsal
HP:0010160,Abnormality of the epiphyses of the toes
HP:0010161,Abnormality of the phalanges of the toes
HP:0010162,"""Absence of the epiphyses of the phalanges of the toes."" [HPO:sdoelken]"
HP:0010163,Bracket epiphyses of the toes
HP:0010164,Cone-shaped epiphyses of the toes
HP:0010165,Enlarged epiphyses of the toes
HP:0010166,Fragmentation of the epiphyses of the toes
HP:0010167,Irregular epiphyses of the toes
HP:0010168,Ivory epiphyses of the toes
HP:0010169,Pseudoepiphyses of the toes
HP:0010170,Small epiphyses of the toes
HP:0010171,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes."" [HPO:probinson]"
HP:0010172,Triangular epiphyses of the toes
HP:0010173,Aplasia/Hypoplasia of the phalanges of the toes
HP:0010174,"""Increased width of phalanx of one or more toes."" [HPO:probinson]"
HP:0010175,"""An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010176,"""A deviation from the normal straight form of one or more toe phalanges."" [HPO:probinson]"
HP:0010177,Osteolytic defects of the phalanges of the toes
HP:0010178,"""Uneven (irregular) increase in bone density of one or more of the phalanges of the foot."" [HPO:probinson]"
HP:0010179,Symphalangism affecting the phalanges of the toes
HP:0010180,Triangular shaped phalanges of the toes
HP:0010181,"""Partial/complete duplication of one or more phalanx of toe."" [HPO:probinson]"
HP:0010182,Abnormality of the distal phalanges of the toes
HP:0010183,Abnormality of the middle phalanges of the toes
HP:0010184,"""A morphological anomaly of one or more proximal phalanges of one or more toes."" [HPO:probinson]"
HP:0010185,"""Absence or underdevelopment of the distal phalanges of the toes."" [HPO:probinson]"
HP:0010186,"""Increased width of the distal phalanx of toe of one or more toes."" [HPO:probinson]"
HP:0010187,"""An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010188,"""A deviation from the normal straight form of one or more distal toe phalanges."" [HPO:probinson]"
HP:0010189,Osteolytic defects of the distal phalanges of the toes
HP:0010190,"""Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0010191,Symphalangism affecting the distal phalanges of the toes
HP:0010192,Triangular shaped distal phalanges of the toes
HP:0010193,"""A partial or complete duplication of one or more distal phalanx of toe."" [HPO:sdoelken]"
HP:0010194,Aplasia/Hypoplasia of the middle phalanges of the toes
HP:0010195,Broad middle phalanges of the toes
HP:0010196,"""An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010197,"""A deviation from the normal straight form of one or more middle toe phalanges."" [HPO:probinson]"
HP:0010198,Osteolytic defects of the middle phalanges of the toes
HP:0010199,"""Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0010200,Symphalangism affecting the middle phalanges of the toes
HP:0010201,Triangular shaped middle phalanges of the toes
HP:0010202,"""Partial or complete duplication of a middle phalanx of toe."" [HPO:probinson]"
HP:0010203,"""Absence (agenesis) or underdevelopment of the proximal phalanx of the toe."" [HPO:probinson]"
HP:0010204,"""An increase in width of one ore more proximal toe phalanges."" [HPO:probinson]"
HP:0010205,"""An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010206,"""A deviation from the normal straight shape of a proximal phalanx of one or more toes."" [HPO:probinson]"
HP:0010207,"""Dissolution or degeneration of bone tissue of the proximal toe phalanx."" [HPO:probinson]"
HP:0010208,"""Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0010209,Symphalangism affecting the proximal phalanges of the toes
HP:0010210,Triangular shaped proximal phalanges of the toes
HP:0010211,"""Partial/complete duplication of a proximal phalanx of toe."" [HPO:sdoelken]"
HP:0010212,"""One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively."" [HPO:probinson]"
HP:0010213,"""Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints."" [HPO:probinson]"
HP:0010214,"""The interphalangeal joint of the big toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0010215,"""The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0010219,"""A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies."" [HPO:curators]"
HP:0010220,"""Any abnormality of the epiphysis of the second metacarpal bone."" [HPO:curators]"
HP:0010222,"""Any abnormality of the epiphysis of the third metacarpal bone."" [HPO:curators]"
HP:0010223,"""The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present."" [HPO:curators]"
HP:0010224,"""Any abnormality of the epiphysis of the 4th metacarpal bone."" [HPO:curators]"
HP:0010225,"""The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present."" [HPO:curators]"
HP:0010226,"""Any abnormality of the epiphysis of the fifth metacarpal bone."" [HPO:curators]"
HP:0010227,"""The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present."" [HPO:curators]"
HP:0010228,"""Absence of one or more epiphyses of the phalanges of the fingers."" [HPO:skoehler]"
HP:0010229,"""Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [HPO:probinson, PMID:24432108]"
HP:0010230,"""A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx."" [HPO:curators]"
HP:0010231,"""Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms."" [HPO:curators]"
HP:0010232,"""Fragmented appearance of the epiphyses of the phalanges of the fingers."" [HPO:curators]"
HP:0010233,"""Irregular radiographic opacity of the epiphyses of the phalanges of the fingers."" [HPO:curators]"
HP:0010234,"""Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:curators]"
HP:0010235,"""A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0010236,"""Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms."" [HPO:curators]"
HP:0010237,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers."" [HPO:probinson]"
HP:0010238,"""A triangular appearance of the epiphyses of the phalanges of the fingers of the hand."" [HPO:curators]"
HP:0010239,"""Absence of one or more middle phalanx of a finger."" [HPO:probinson]"
HP:0010241,"""Congenital hypoplasia of one or more proximal phalanx of finger."" [HPO:probinson]"
HP:0010242,Aplasia of the proximal phalanges of the hand
HP:0010243,"""Any anomaly of distal epiphysis of phalanx of finger."" [HPO:probinson]"
HP:0010244,Abnormality of the epiphyses of the middle phalanges of the hand
HP:0010245,Abnormality of the epiphyses of the proximal phalanges of the hand
HP:0010246,Absent epiphyses of the distal phalanges of the hand
HP:0010247,"""An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [PMID:24432108]"
HP:0010248,Cone-shaped epiphyses of the distal phalanges of the hand
HP:0010249,Enlarged epiphyses of the distal phalanges of the hand
HP:0010250,Fragmentation of the epiphyses of the distal phalanges of the hand
HP:0010251,Irregular epiphyses of the distal phalanges of the hand
HP:0010252,"""Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."" [HPO:probinson]"
HP:0010253,"""A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" []"
HP:0010254,Small epiphyses of the distal phalanges of the hand
HP:0010255,Stippling of the epiphyses of the distal phalanges of the hand
HP:0010256,Triangular epiphyses of the distal phalanges of the hand
HP:0010257,Absent epiphyses of the middle phalanges of the hand
HP:0010258,"""An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [PMID:24432108]"
HP:0010259,Cone-shaped epiphyses of the middle phalanges of the hand
HP:0010260,Enlarged epiphyses of the middle phalanges of the hand
HP:0010261,"""Fragmented appearance of the epiphyses of the middle phalanges of the hand."" [HPO:curators]"
HP:0010262,Irregular epiphyses of the middle phalanges of the hand
HP:0010263,"""Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."" [HPO:probinson]"
HP:0010264,"""A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" []"
HP:0010265,Small epiphyses of the middle phalanges of the hand
HP:0010266,Stippling of the epiphyses of the middle phalanges of the hand
HP:0010267,Triangular epiphyses of the middle phalanges of the hand
HP:0010268,Absent epiphyses of the proximal phalanges of the hand
HP:0010269,"""An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."" [ORCID:0000-0001-7941-2961, PMID:24432108]"
HP:0010270,Cone-shaped epiphyses of the proximal phalanges of the hand
HP:0010271,Enlarged epiphyses of the proximal phalanges of the hand
HP:0010272,Fragmentation of the epiphyses of the proximal phalanges of the hand
HP:0010273,Irregular epiphyses of the proximal phalanges of the hand
HP:0010274,"""Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."" [HPO:probinson]"
HP:0010275,"""A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone."" [HPO:curators]"
HP:0010276,Small epiphyses of the proximal phalanges of the hand
HP:0010277,Stippling of the epiphyses of the proximal phalanges of the hand
HP:0010278,Triangular epiphyses of the proximal phalanges of the hand
HP:0010280,"""Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth."" [HPO:probinson]"
HP:0010281,"""A gap in the lower lip."" [HPO:probinson]"
HP:0010282,"""Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective)."" [PMID:19125428]"
HP:0010284,"""Increased pigmentation, either focal or generalized, of the mucosa of the mouth."" [PMID:19125428]"
HP:0010285,"""Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges."" [PMID:19125428]"
HP:0010286,"""Any abnormality of the salivary glands, the exocrine glands that produce saliva."" [HPO:probinson]"
HP:0010287,"""Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles."" [HPO:curators]"
HP:0010288,"""Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands."" [HPO:curators]"
HP:0010289,"""A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth."" [HPO:mengelstad, HPO:probinson]"
HP:0010290,"""Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective)."" [PMID:19125428]"
HP:0010291,"""Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge."" [PMID:19125428]"
HP:0010292,"""Lack of the uvula."" [PMID:19125428]"
HP:0010293,"""Underdevelopment or absence of the uvula."" [HPO:curators]"
HP:0010294,"""A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate."" [HPO:probinson]"
HP:0010295,"""Absence or underdevelopment of the tongue."" [HPO:curators]"
HP:0010296,"""Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue."" [PMID:19125428]"
HP:0010297,"""Tongue with a median apical indentation or fork."" [PMID:19125428]"
HP:0010298,"""Glossy appearance of the entire tongue surface."" [PMID:19125428]"
HP:0010299,"""Any abnormality of dentin."" [HPO:probinson]"
HP:0010300,"""An abnormally low-pitched voice."" [HPO:curators]"
HP:0010301,"""A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life."" [HPO:probinson]"
HP:0010302,"""A neoplasm affecting the spinal cord."" [HPO:probinson]"
HP:0010303,"""Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord."" [HPO:probinson]"
HP:0010304,"""An outpouching of the spinal meninges."" [HPO:curators]"
HP:0010305,"""Absence (aplasia) of the sacrum."" [HPO:probinson]"
HP:0010306,"""Reduced inferior to superior extent of the thorax."" [HPO:curators]"
HP:0010307,"""Stridor is a high pitched sound resulting from turbulent air flow in the upper airway."" [HPO:probinson, PMID:26229557]"
HP:0010308,"""The congenital absence of the sternum."" [HPO:probinson, PMID:3424262]"
HP:0010309,"""The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum."" [HPO:probinson]"
HP:0010310,"""Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity."" [HPO:curators]"
HP:0010311,"""Absence or underdevelopment of the breasts."" [HPO:curators]"
HP:0010312,"""The presence of asymmetrical breasts."" [HPO:probinson]"
HP:0010313,"""The presence of hypertrophy of the breast."" [HPO:probinson]"
HP:0010314,"""Premature development of the breasts."" [HPO:probinson]"
HP:0010315,"""Absence or underdevelopment of the diaphragm."" [HPO:curators]"
HP:0010316,"""Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet."" [DDD:dbrown, HPO:probinson]"
HP:0010317,"""Absence of the scapulae."" [HPO:probinson]"
HP:0010318,"""Absence or underdevelopment of the abdominal musculature."" [HPO:curators]"
HP:0010319,"""An anomaly of the second toe."" [HPO:probinson]"
HP:0010320,"""An anomaly of the third toe."" [HPO:probinson]"
HP:0010321,"""An anomaly of the fourth toe."" [HPO:probinson]"
HP:0010322,"""An anomaly of the little toe."" [HPO:probinson]"
HP:0010323,Abnormality of the epiphyses of the 2nd toe
HP:0010324,"""An anomaly of a phalanx of second toe."" [HPO:sdoelken]"
HP:0010325,Aplasia/Hypoplasia of the 2nd toe
HP:0010326,Deviation of the 2nd toe
HP:0010327,"""One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively."" [HPO:probinson]"
HP:0010328,Polydactyly affecting the 2nd toe
HP:0010329,Abnormality of the epiphyses of the 3rd toe
HP:0010330,Abnormality of the phalanges of the 3rd toe
HP:0010331,Aplasia/Hypoplasia of the 3rd toe
HP:0010332,Deviation of the 3rd toe
HP:0010333,"""One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively."" [HPO:probinson]"
HP:0010334,Polydactyly affecting the 3rd toe
HP:0010335,Abnormality of the epiphyses of the 4th toe
HP:0010336,Abnormality of the phalanges of the 4th toe
HP:0010337,Aplasia/Hypoplasia of the 4th toe
HP:0010338,Deviation of the 4th toe
HP:0010339,"""One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively."" [HPO:probinson]"
HP:0010340,Polydactyly affecting the 4th toe
HP:0010341,Abnormality of the epiphyses of the 5th toe
HP:0010342,Abnormality of the phalanges of the 5th toe
HP:0010343,Aplasia/Hypoplasia of the 5th toe
HP:0010344,Deviation of the 5th toe
HP:0010345,"""One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively."" [HPO:probinson]"
HP:0010347,Aplasia/Hypoplasia of the phalanges of the 2nd toe
HP:0010348,Broad phalanges of the 2nd toe
HP:0010349,"""An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010350,"""A deviation from the normal straight form of one or more phalanges of the second toe."" [HPO:probinson]"
HP:0010351,Osteolytic defects of the phalanges of the 2nd toe
HP:0010352,"""Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0010353,"""Fusion of the interphalangeal joints of the 2nd toe."" [HPO:probinson]"
HP:0010354,Triangular shaped phalanges of the 2nd toe
HP:0010355,"""Partial or complete duplication of a phalanx of second toe."" [HPO:sdoelken]"
HP:0010356,Abnormality of the distal phalanx of the 2nd toe
HP:0010357,Abnormality of the middle phalanx of the 2nd toe
HP:0010358,Abnormal morphology of the proximal phalanx of the 2nd toe
HP:0010359,Aplasia/Hypoplasia of the phalanges of the 3rd toe
HP:0010360,Broad phalanges of the 3rd toe
HP:0010361,"""An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010362,"""A deviation from the normal straight form of one or more phalanges of the third toe."" [HPO:probinson]"
HP:0010363,Osteolytic defects of the phalanges of the 3rd toe
HP:0010364,"""Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0010365,Symphalangism affecting the phalanges of the 3rd toe
HP:0010366,Triangular shaped phalanges of the 3rd toe
HP:0010367,"""Partial or complete duplication of phalanx of third toe."" [HPO:sdoelken]"
HP:0010368,Abnormality of the distal phalanx of the 3rd toe
HP:0010369,Abnormality of the middle phalanx of the 3rd toe
HP:0010370,"""An anomaly of the proximal phalanx of third toe."" [HPO:probinson]"
HP:0010371,Aplasia/Hypoplasia of the phalanges of the 4th toe
HP:0010372,Broad phalanges of the 4th toe
HP:0010373,"""An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010374,"""A deviation from the normal straight form of one or more phalanges of the fourth toe."" [HPO:probinson]"
HP:0010375,Osteolytic defects of the phalanges of the 4th toe
HP:0010376,"""Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0010377,Symphalangism affecting the phalanges of the 4th toe
HP:0010378,Triangular shaped phalanges of the 4th toe
HP:0010379,"""Partial or complete duplication of phalanx of fourth toe."" [HPO:probinson]"
HP:0010380,Abnormality of the distal phalanx of the 4th toe
HP:0010381,Abnormality of the middle phalanx of the 4th toe
HP:0010382,Abnormal morphology of the proximal phalanx of the 4th toe
HP:0010383,Aplasia/Hypoplasia of the phalanges of the 5th toe
HP:0010384,Broad phalanges of the 5th toe
HP:0010385,"""An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010386,"""A deviation from the normal straight form of one or more phalanges of the fifth toe."" [HPO:probinson]"
HP:0010387,Osteolytic defects of the phalanges of the 5th toe
HP:0010388,"""Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0010389,Symphalangism affecting the phalanges of the 5th toe
HP:0010390,Triangular shaped phalanges of the 5th toe
HP:0010391,"""Partial or complete duplication of one or more phalanx of little toe."" [HPO:probinson]"
HP:0010392,Abnormality of the distal phalanx of the 5th toe
HP:0010393,Abnormality of the middle phalanx of the 5th toe
HP:0010394,Abnormal morphology of the proximal phalanx of the 5th toe
HP:0010395,"""Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe."" [HPO:probinson]"
HP:0010396,Broad proximal phalanx of the 2nd toe
HP:0010397,"""An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010398,"""A deviation from the normal straight form of the proximal phalanx of the 2nd toe."" [HPO:probinson]"
HP:0010399,Osteolytic defects of the proximal phalanx of the 2nd toe
HP:0010400,Patchy sclerosis of the proximal phalanx of the 2nd toe
HP:0010401,Symphalangism affecting the proximal phalanx of the 2nd toe
HP:0010402,Triangular shaped proximal phalanx of the 2nd toe
HP:0010403,"""Partial or complete duplication of proximal phalanx of second toe."" [HPO:sdoelken]"
HP:0010404,Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
HP:0010405,Broad middle phalanx of the 2nd toe
HP:0010406,"""An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010407,"""A deviation from the normal straight form of the middle phalanx of the 2nd toe."" [HPO:probinson]"
HP:0010408,Osteolytic defects of the middle phalanx of the 2nd toe
HP:0010409,Patchy sclerosis of the middle phalanx of the 2nd toe
HP:0010410,Symphalangism affecting the middle phalanx of the 2nd toe
HP:0010411,Triangular shaped middle phalanx of the 2nd toe
HP:0010412,"""Partial or complete duplication of middle phalanx of second toe."" [HPO:sdoelken]"
HP:0010413,Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
HP:0010414,Broad distal phalanx of the 2nd toe
HP:0010415,"""An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0010416,"""A deviation from the normal straight form of the distal phalanx of the 2nd toe."" [HPO:probinson]"
HP:0010417,Osteolytic defects of the distal phalanx of the 2nd toe
HP:0010418,Patchy sclerosis of the distal phalanx of the 2nd toe
HP:0010419,Symphalangism affecting the distal phalanx of the 2nd toe
HP:0010420,Triangular shaped distal phalanx of the 2nd toe
HP:0010421,"""Partial or complete duplication of the distal phalanx of second toe."" [HPO:sdoelken]"
HP:0010422,"""Complete duplication of proximal phalanx of second toe."" [HPO:sdoelken]"
HP:0010423,"""Partial duplication of proximal phalanx of second toe."" [HPO:probinson]"
HP:0010424,"""Complete duplication of the distal phalanx of second toe."" [HPO:probinson]"
HP:0010425,"""Partial duplication of the distal phalanx of second toe."" [HPO:probinson]"
HP:0010426,"""Complete duplication of middle phalanx of second toe."" [HPO:sdoelken]"
HP:0010427,"""Partial duplication of middle phalanx of second toe."" [HPO:sdoelken]"
HP:0010428,"""Partial duplication of a phalanx of second toe."" [HPO:sdoelken]"
HP:0010429,"""Complete duplication of a phalanx of second toe."" [HPO:sdoelken]"
HP:0010430,Aplasia of the phalanges of the 2nd toe
HP:0010431,"""Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia."" [HPO:probinson]"
HP:0010432,"""Absence of distal phalanx of the second toe as a result of developmental aplasia."" [HPO:probinson]"
HP:0010433,"""Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia."" [HPO:probinson]"
HP:0010434,Aplasia of the middle phalanx of the 2nd toe
HP:0010435,"""Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia."" [HPO:probinson]"
HP:0010436,Aplasia of the proximal phalanx of the 2nd toe
HP:0010437,"""Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia."" [HPO:sdoelken]"
HP:0010438,"""A structural abnormality of the interventricular septum."" [HPO:probinson]"
HP:0010440,"""In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200)."" [HPO:curators]"
HP:0010441,"""In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200)."" [HPO:probinson]"
HP:0010442,"""A congenital anomaly characterized by the presence of supernumerary fingers or toes."" [HPO:probinson]"
HP:0010443,"""A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side."" [HPO:probinson]"
HP:0010444,"""The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole."" [HPO:probinson, ORCID:0000-0002-3302-4610, PMID:32491496]"
HP:0010445,"""An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum."" [DDD:dbrown, HPO:probinson]"
HP:0010446,"""A narrowing of the orifice of the tricuspid valve of the heart."" [HPO:probinson, PMID:18222317]"
HP:0010447,"""An abnormal connection between the epithelialised surface of the anal canal and the perianal skin."" [HPO:probinson]"
HP:0010448,"""A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon."" [HPO:probinson]"
HP:0010450,"""An abnormal narrowing of the lumen of the esophagus."" [HPO:probinson]"
HP:0010451,"""Absence or underdevelopment of the spleen."" [HPO:curators]"
HP:0010452,"""An abnormal (non-anatomic) location of the spleen."" [HPO:curators]"
HP:0010453,"""Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology."" [HPO:probinson]"
HP:0010454,"""The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum."" [HPO:probinson]"
HP:0010455,"""An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance."" [HPO:probinson]"
HP:0010456,"""An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium."" [HPO:curators]"
HP:0010458,"""Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized."" [HPO:curators]"
HP:0010459,"""The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism."" [HPO:probinson, PMID:11327376]"
HP:0010460,"""Abnormality of the female genital system."" [HPO:probinson]"
HP:0010461,"""Abnormality of the male genital system."" [HPO:probinson]"
HP:0010462,"""Aplasia or developmental hypoplasia of the ovary."" [HPO:probinson]"
HP:0010463,"""Aplasia, that is failure to develop, of the ovary."" [HPO:probinson]"
HP:0010464,"""A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells."" [HPO:probinson]"
HP:0010465,"""The onset of puberty before the age of 8 years in girls."" [HPO:probinson]"
HP:0010468,"""Absence or underdevelopment of the testes."" [HPO:curators]"
HP:0010469,"""Testis not palpable in the scrotum or inguinal canal."" [HPO:probinson, PMID:23650202]"
HP:0010470,"""The presence of more than two testes."" [HPO:probinson]"
HP:0010471,"""Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins."" [HPO:probinson]"
HP:0010472,"""An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes."" [HPO:curators]"
HP:0010473,"""Abnormally increased excretion of porphyrins in the urine."" [HPO:probinson]"
HP:0010474,"""Buildups of minerals that form in the urinary bladder."" [HPO:probinson]"
HP:0010475,"""Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus."" [HPO:probinson]"
HP:0010476,"""Absence or underdevelopment of the urinary bladder."" [HPO:probinson]"
HP:0010477,"""Aplasia (absence) of the urinary bladder."" [HPO:probinson]"
HP:0010478,"""Abnormality of the urachus."" [HPO:probinson]"
HP:0010479,"""Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus."" [HPO:probinson]"
HP:0010480,"""The presence of an abnormal connection between the urethra and another organ or the skin."" [HPO:curators]"
HP:0010481,"""The presence of an abnormal membrane obstructing the urethra."" [HPO:probinson]"
HP:0010482,"""Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments."" [HPO:curators]"
HP:0010483,"""Amniotic constriction rings affecting the arms."" [HPO:curators]"
HP:0010484,"""Abnormal increase in size of the upper limbs (due to an increase of the size of cells)."" [HPO:curators]"
HP:0010485,"""The ability of the elbow joint to move beyond its normal range of motion."" [HPO:curators]"
HP:0010486,"""An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger)."" [HPO:probinson]"
HP:0010487,"""Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence."" [HPO:probinson, PMID:19125433]"
HP:0010488,"""Absence or underdevelopment of the palmar creases."" [HPO:curators]"
HP:0010489,"""The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease)."" [HPO:probinson, PMID:19125433]"
HP:0010490,"""An abnormality of the creases of the skin of palm of hand."" [HPO:probinson]"
HP:0010491,"""A narrow segment of significantly reduced circumference of a digit."" [PMID:19125433]"
HP:0010492,"""Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as \""bony\"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \""Symphalangism\""."" [HPO:sdoelken]"
HP:0010493,"""An abnormally increased length of the metacarpal bones."" [HPO:probinson]"
HP:0010494,"""Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments."" [HPO:probinson]"
HP:0010495,"""Amniotic constriction rings affecting the legs."" [HPO:probinson]"
HP:0010496,"""Abnormal increase in size of the lower limbs (due to an increase of the size of cells)."" [HPO:curators]"
HP:0010497,"""A developmental defect in which the legs are fused together."" [HPO:probinson]"
HP:0010498,"""A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood."" [HPO:probinson]"
HP:0010499,"""The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella."" [HPO:curators]"
HP:0010500,"""The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh)."" [HPO:probinson]"
HP:0010501,"""An abnormal limitation of knee joint mobility."" [HPO:curators]"
HP:0010502,"""A bending or abnormal curvature of the fibula."" [HPO:probinson]"
HP:0010503,"""Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition."" [HPO:probinson]"
HP:0010504,"""An abnormal increase in the length of the tibia."" [HPO:curators]"
HP:0010505,"""An abnormal limitation of the mobility of the ankle joint."" [HPO:curators]"
HP:0010506,"""An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot."" [HPO:probinson]"
HP:0010507,"""A difference in size or shape between the left and right foot."" [HPO:curators]"
HP:0010508,"""A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight."" [HPO:curators]"
HP:0010509,"""Absence of the tarsal bones."" [HPO:curators]"
HP:0010510,"""An ability of the toe joints to move beyond their normal range of motion."" [HPO:curators]"
HP:0010511,"""Toes that appear disproportionately long compared to the foot."" [HPO:probinson, PMID:19125433]"
HP:0010512,"""Calcification within the adrenal glands."" [HPO:probinson]"
HP:0010513,"""Deposition of calcium salts in the pituitary gland."" [HPO:probinson]"
HP:0010514,"""Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma."" [HPO:probinson]"
HP:0010515,"""Absence or underdevelopment of the thymus."" [HPO:probinson]"
HP:0010516,"""Enlargement of the thymus."" [HPO:curators]"
HP:0010517,"""The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend."" [HPO:curators]"
HP:0010518,"""An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct."" [HPO:probinson]"
HP:0010519,"""An abnormal increase in quantity or strength of fetal movements."" [HPO:curators]"
HP:0010521,"""Gait apraxia affecting the ability to make walking movements with the legs."" [HPO:curators]"
HP:0010522,"""A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)."" [HPO:probinson]"
HP:0010523,"""An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read."" [HPO:probinson]"
HP:0010524,"""Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions."" [HPO:probinson]"
HP:0010525,"""An inability or difficulty differentiating among the fingers of either hand as well as the hands of others."" [HPO:curators]"
HP:0010526,"""A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment."" [HPO:curators]"
HP:0010527,"""Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit."" [HPO:probinson]"
HP:0010528,"""Inability to recognize faces of familiar persons."" [HPO:probinson]"
HP:0010529,"""The tendency to repeat vocalizations made by another person."" [HPO:curators]"
HP:0010530,"""Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral."" [HPO:probinson, PMID:33101766]"
HP:0010531,"""Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia."" [HPO:curators]"
HP:0010532,"""Paroxysmal episodes of vertigo."" [HPO:curators]"
HP:0010533,"""The combination of pendular nystagmus, head nodding, and torticollis."" [HPO:probinson, PMID:7499100]"
HP:0010534,"""A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information."" [HPO:probinson]"
HP:0010535,"""An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep."" [HPO:curators]"
HP:0010536,"""Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles."" [HPO:probinson]"
HP:0010537,"""An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure)."" [HPO:probinson]"
HP:0010538,"""An abnormally small sella turcica."" [HPO:curators]"
HP:0010539,"""The presence of an abnormally thin calvarium."" [HPO:probinson]"
HP:0010540,"""A degree of pneumatization that is increased compared to age-related norms."" [HPO:probinson]"
HP:0010541,"""The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction."" [HPO:probinson]"
HP:0010542,"""Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components."" [HPO:curators]"
HP:0010543,"""Bursts of large-amplitude multidirectional saccades without intersaccadic interval"" [HPO:probinson, UManchester:psergouniotis]"
HP:0010544,"""Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus."" [HPO:probinson]"
HP:0010545,"""Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone."" [HPO:probinson, PMID:21505601]"
HP:0010546,"""Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG."" [HPO:probinson]"
HP:0010547,"""A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation."" [HPO:curators]"
HP:0010548,"""A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object)."" [HPO:curators]"
HP:0010549,"""Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons."" [HPO:probinson]"
HP:0010550,"""Severe or complete weakness of both lower extremities with sparing of the upper extremities."" [HPO:probinson]"
HP:0010551,"""Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength."" [HPO:curators]"
HP:0010553,"""An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications."" [HPO:curators]"
HP:0010554,"""A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers."" [PMID:19125433]"
HP:0010557,"""A finger resting on the dorsal surface of an adjacent digit when the hand is at rest."" [HPO:probinson, PMID:19125433]"
HP:0010558,"""An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum."" [HPO:curators]"
HP:0010559,"""An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)."" [HPO:curators]"
HP:0010560,"""An abnormally wavy surface or edge of the clavicles."" [HPO:curators]"
HP:0010561,"""An abnormally wavy surface or edge of the ribs."" [HPO:probinson]"
HP:0010562,Keloids
HP:0010564,"""A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation."" [HPO:curators]"
HP:0010565,"""This term applies if the Epiglottis is absent or hypoplastic."" [HPO:curators]"
HP:0010566,"""A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma."" [HPO:curators]"
HP:0010567,"""Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly."" [HPO:curators]"
HP:0010568,"""A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye."" [HPO:probinson]"
HP:0010569,"""Elevated 7-dehydrocholesterol levels."" [HPO:probinson]"
HP:0010570,"""An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age."" [HPO:probinson]"
HP:0010571,"""An abnormal elevation of phytanic acid."" [HPO:curators]"
HP:0010574,"""Any abnormality of the proximal epiphysis of the femur."" [HPO:sdoelken]"
HP:0010575,"""The presence of developmental dysplasia of the femoral head."" [HPO:probinson]"
HP:0010576,"""A cystic lesion originating within the brain."" [HPO:probinson]"
HP:0010577,Absent epiphyses
HP:0010578,Bracket epiphyses
HP:0010579,"""Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery."" [HPO:probinson]"
HP:0010580,"""Increased size of epiphyses."" [HPO:probinson]"
HP:0010582,"""An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance."" [HPO:probinson]"
HP:0010583,"""Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."" [HPO:sdoelken]"
HP:0010584,Pseudoepiphyses
HP:0010585,"""Reduction in the size or volume of epiphyses."" [HPO:probinson]"
HP:0010587,Triangular epiphyses
HP:0010588,"""Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."" [HPO:probinson, PMID:12624140]"
HP:0010590,"""Any abnormality of the distal epiphysis of the femur."" [HPO:probinson]"
HP:0010591,"""Any abnormality of the proximal epiphysis of the tibia."" [HPO:curators]"
HP:0010592,Abnormality of the distal tibial epiphysis
HP:0010593,Abnormality of fibular epiphyses
HP:0010594,"""Any abnormality of the proximal epiphysis of the fibula."" [HPO:curators]"
HP:0010595,"""Any abnormality of the distal epiphysis of the fibula."" [HPO:curators]"
HP:0010596,"""Any abnormality of the proximal epiphysis of the radius."" [HPO:curators]"
HP:0010597,"""Any abnormality of the distal epiphysis of the radius."" [HPO:curators]"
HP:0010598,"""Any abnormality of the proximal epiphysis of the humerus."" [HPO:curators]"
HP:0010599,"""Any abnormality of the distal epiphysis of the humerus."" [HPO:curators]"
HP:0010600,"""Any abnormality of the distal epiphysis of the ulna."" [HPO:curators]"
HP:0010601,"""Any abnormality of the proximal epiphysis of the ulna."" [HPO:curators]"
HP:0010602,"""An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy)."" [HPO:probinson]"
HP:0010603,"""A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour."" [HPO:curators, PMID:18353202]"
HP:0010604,Cyst of the eyelid
HP:0010605,"""A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes."" [HPO:probinson]"
HP:0010606,"""An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling."" [HPO:sdoelken]"
HP:0010607,"""Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling."" [HPO:curators]"
HP:0010608,"""Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling."" [HPO:curators]"
HP:0010609,"""Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region."" [HPO:sdoelken]"
HP:0010610,Palmar pits
HP:0010612,"""The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot."" [HPO:probinson]"
HP:0010614,"""Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \""fibroblastic\"" or \""fibromatous\"" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors."" [HPO:curators]"
HP:0010615,"""Angiofibroma consist of many often dilated vessels."" [HPO:curators]"
HP:0010616,"""The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule."" [HPO:curators]"
HP:0010617,"""A fibroma of the heart."" [HPO:probinson]"
HP:0010618,"""The presence of a fibroma of the ovary."" [HPO:probinson]"
HP:0010619,"""A benign biphasic tumor of the breast with epithelial and stromal components."" [HPO:probinson, PMID:23396888]"
HP:0010620,"""Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face."" [DDD:jclayton-smith]"
HP:0010621,"""A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria."" [HPO:probinson, PMID:19125433]"
HP:0010622,"""A tumor (abnormal growth of tissue) of the skeleton."" [HPO:probinson]"
HP:0010624,"""Absence or underdevelopment of the toenail."" [HPO:probinson]"
HP:0010625,"""Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis."" [DDD:spark, HPO:probinson]"
HP:0010626,"""Absence of the anterior pituitary gland resulting from a developmental defect."" [DDD:spark, HPO:probinson, HPO:skoehler]"
HP:0010627,"""Underdevelopment of the anterior pituitary gland."" [DDD:spark, HPO:probinson]"
HP:0010628,"""Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form."" [HPO:sdoelken]"
HP:0010629,"""Any abnormality affecting the cortex of the humerus."" [HPO:curators]"
HP:0010630,"""Any abnormality of a metatarsal bone epiphysis."" [HPO:curators]"
HP:0010631,"""Any abnormality of the epiphyses of the feet."" [HPO:curators]"
HP:0010632,"""Inability to detect any qualitative olfactory sensation."" [HPO:curators]"
HP:0010633,"""Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)."" [HPO:curators]"
HP:0010634,"""Reduced ability to detect any qualitative olfactory sensation."" [HPO:curators]"
HP:0010635,"""Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)."" [HPO:probinson]"
HP:0010636,"""The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area."" [HPO:curators]"
HP:0010637,"""A form of amyloidosis that affects the conjunctiva."" [HPO:probinson]"
HP:0010638,"""An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood."" [HPO:probinson]"
HP:0010639,"""An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood."" [HPO:probinson]"
HP:0010640,"""Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures)."" [HPO:curators]"
HP:0010641,"""Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae."" [HPO:curators]"
HP:0010643,"""Absence or abnormal closure of the midnasal cavity."" [HPO:curators]"
HP:0010644,"""Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress."" [HPO:probinson]"
HP:0010645,"""Absence of the distal phalanges of the toes."" [HPO:curators]"
HP:0010646,"""An abnormal lack of stability of the cervical spine."" [HPO:curators]"
HP:0010647,"""Any abnormal increase or reduction in skin elasticity."" [DDD:cmoss]"
HP:0010648,"""An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility."" [HPO:probinson]"
HP:0010649,"""An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae)."" [HPO:probinson]"
HP:0010650,"""An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures."" [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]"
HP:0010651,"""An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater."" [HPO:probinson]"
HP:0010652,"""An abnormality of the Dura mater."" [HPO:probinson]"
HP:0010653,"""An abnormality of the Falx cerebri."" [HPO:probinson]"
HP:0010654,"""A developmental defect characterized by aplasia of the Falx cerebri."" [HPO:probinson]"
HP:0010655,"""The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses."" [HPO:probinson]"
HP:0010656,"""An abnormality of the formation and mineralization of an epiphysis."" [HPO:probinson]"
HP:0010657,"""Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:curators]"
HP:0010658,"""Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density)."" [HPO:curators]"
HP:0010659,"""Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays."" [HPO:probinson]"
HP:0010660,"""An abnormality of the formation and mineralization of any bone of the skeleton of hand."" [HPO:probinson]"
HP:0010661,"""A developmental defect characterized by the absence of the third ventricle."" [HPO:probinson]"
HP:0010662,"""An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain."" [HPO:probinson]"
HP:0010663,"""An abnormality of the thalamus."" [HPO:probinson]"
HP:0010664,"""A developmental defect characterized by fusion of the left and right halves of the thalamus."" [HPO:probinson]"
HP:0010665,"""The presence of bilateral coxa valga."" [HPO:probinson]"
HP:0010666,"""Underdevelopment of the anterior nasal spine of maxilla."" [HPO:probinson]"
HP:0010667,"""A congenital defect characterized by absence of the Maxilla."" [HPO:probinson]"
HP:0010668,"""An abnormality of the zygomatic bone."" [HPO:curators]"
HP:0010669,"""Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch."" [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]"
HP:0010672,"""An abnormality of the third metatarsal bone."" [HPO:probinson]"
HP:0010674,"""The presence of an abnormal curvature of the vertebral column."" [HPO:probinson]"
HP:0010675,"""An abnormality of the formation and mineralization of any bone of the skeleton of foot."" [HPO:probinson]"
HP:0010676,Mechanical ileus
HP:0010677,"""Enuresis occurring during sleeping hours."" [HPO:sdoelken]"
HP:0010678,"""Enuresis occurring during waking hours of the day."" [HPO:sdoelken]"
HP:0010679,"""An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood."" [HPO:probinson]"
HP:0010680,"""An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood."" [HPO:probinson]"
HP:0010681,"""An abnormally increased level of alkaline phosphatase, intestinal type in the blood."" [HPO:probinson]"
HP:0010682,"""An abnormally increased level of alkaline phosphatase, placental type in the blood."" [HPO:probinson]"
HP:0010683,"""An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood."" [HPO:probinson]"
HP:0010684,"""An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood."" [HPO:probinson]"
HP:0010685,"""An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood."" [HPO:probinson]"
HP:0010686,"""An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood."" [HPO:probinson]"
HP:0010687,"""An abnormally reduced level of alkaline phosphatase, intestinal type in the blood."" [HPO:probinson]"
HP:0010688,"""An abnormally reduced level of alkaline phosphatase, placental type in the blood."" [HPO:probinson]"
HP:0010689,"""A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes."" [HPO:sdoelken, PMID:19125433]"
HP:0010690,"""Mirror image duplication of digits affecting the hands only."" [HPO:sdoelken]"
HP:0010691,"""Mirror image duplication of digits affecting the feet."" [HPO:sdoelken]"
HP:0010692,"""Syndactyly with fusion of fingers two to five."" [HPO:sdoelken]"
HP:0010693,"""A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally."" [HPO:probinson, HPO:vkumar]"
HP:0010694,"""A Lamellar cataract with a pulverulent (punctate, \""dust-like\"" opacities) appearance."" [HPO:probinson]"
HP:0010695,"""A type of congenital cataract in which the opacity follows the anterior or posterior Y suture."" [HPO:probinson]"
HP:0010696,"""A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens."" [HPO:probinson]"
HP:0010697,"""A type of anterior polar cataract which projects as a conical opacity into the anterior chamber."" [HPO:probinson]"
HP:0010698,"""A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus."" [HPO:probinson, PMID:10634616, PMID:14059288]"
HP:0010699,"""A nuclear cataract with a triangular form."" [HPO:probinson, PMID:18483562]"
HP:0010701,"""An abnormal deviation from normal levels of immunoglobulins in blood."" [HPO:probinson]"
HP:0010702,"""An increased level of gamma globulin (immunoglobulin) in the blood."" [HPO:probinson]"
HP:0010704,"""Syndactyly with fusion of fingers one and two."" [HPO:sdoelken]"
HP:0010705,"""Syndactyly with fusion of fingers four and five."" [HPO:sdoelken]"
HP:0010706,"""Syndactyly with fusion of fingers one to three."" [HPO:sdoelken]"
HP:0010707,"""Syndactyly with fusion of fingers one to four."" [HPO:sdoelken]"
HP:0010708,"""Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand)."" [HPO:sdoelken]"
HP:0010709,"""Syndactyly with fusion of the fingers two to four."" [HPO:sdoelken]"
HP:0010710,"""Syndactyly with fusion of fingers three to five."" [HPO:sdoelken]"
HP:0010711,"""Syndactyly with fusion of toes one and two."" [HPO:sdoelken]"
HP:0010712,"""Syndactyly with fusion of toes one to four."" [HPO:sdoelken]"
HP:0010713,"""Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot)."" [HPO:sdoelken]"
HP:0010714,"""Syndactyly with fusion of toes two to four."" [HPO:sdoelken]"
HP:0010715,"""Syndactyly with fusion of toes two to five."" [HPO:sdoelken]"
HP:0010716,"""Syndactyly with fusion of toes three to five."" [HPO:sdoelken]"
HP:0010717,"""Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as \""bony\"" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \""Symphalangism\""."" [HPO:sdoelken]"
HP:0010719,"""An abnormality of the texture of the hair."" [HPO:probinson]"
HP:0010720,"""An abnormality of the distribution of hair growth."" [HPO:probinson]"
HP:0010721,"""An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)."" [HPO:probinson]"
HP:0010722,"""An asymmetriy, i.e., difference in size, shape or position between the left and right ear."" [HPO:probinson]"
HP:0010723,Cystic lesions of the pinnae
HP:0010724,"""An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms."" [HPO:probinson]"
HP:0010726,"""Abnormal prominence of the corneal nerve fibers."" [DDD:ncarter, HPO:probinson]"
HP:0010727,"""Rupture of the eyeball not due to trauma."" [HPO:probinson]"
HP:0010728,"""A developmental defect characterized by absence of the retina."" [HPO:probinson]"
HP:0010729,"""Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula."" [HPO:probinson]"
HP:0010730,"""This may present as a partial or complete duplication of the eyebrows."" [HPO:sdoelken]"
HP:0010731,"""The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid."" [HPO:sdoelken]"
HP:0010732,"""Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more."" [HPO:sdoelken]"
HP:0010733,"""Naevus flammeus localised in the skin of the eyelid."" [HPO:sdoelken]"
HP:0010734,"""Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia)."" [HPO:sdoelken]"
HP:0010735,"""Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome."" [HPO:sdoelken]"
HP:0010736,"""Fibrous dysplasia of the bones were lesions are localized in only one bone."" [HPO:sdoelken]"
HP:0010739,"""Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake."" [HPO:sdoelken]"
HP:0010740,"""A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance."" [HPO:sdoelken]"
HP:0010741,"""An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg."" [HPO:probinson]"
HP:0010742,"""An abnormal accumulation of fluid beneath the skin of the arms."" [HPO:probinson]"
HP:0010743,"""Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe."" [HPO:probinson, PMID:19125433]"
HP:0010744,"""A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone."" [HPO:probinson]"
HP:0010745,"""Absence of a digit or of one or more phalanges of a toe."" [HPO:probinson]"
HP:0010746,Hypoplasia of the phalanges of the toes
HP:0010747,"""An abnormal distribution of eyebrow hair growth in the medial direction."" [HPO:probinson]"
HP:0010748,"""Positioning of a lacrimal punctum other than at the medial margins of the eyelid."" [PMID:19125427]"
HP:0010749,"""Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads."" [PMID:3207663]"
HP:0010750,"""Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge."" [HPO:probinson]"
HP:0010751,"""A persistent midline depression of the skin over the fat pad of the chin."" [PMID:19125436]"
HP:0010752,"""Midline deficiency of the mandible and some or all overlying tissues."" [PMID:19125436]"
HP:0010753,Midline defect of mandible
HP:0010754,"""An anomaly of the temporomandibular joint."" [HPO:probinson]"
HP:0010755,"""Asymmetry between the left and right sides of the maxilla."" [ORCID:0000-0001-5889-4463]"
HP:0010756,"""Absence or underdevelopment of the premaxilla."" [HPO:probinson]"
HP:0010757,"""Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla."" [HPO:probinson]"
HP:0010758,"""An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate."" [HPO:sdoelken, ORCID:0000-0001-5889-4463]"
HP:0010759,"""Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla."" [HPO:sdoelken, ORCID:0000-0001-5889-4463, PMID:19125436]"
HP:0010760,"""Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues."" [HPO:probinson]"
HP:0010761,"""Increased width of the columella."" [PMID:19152422]"
HP:0010762,"""A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis."" [HPO:probinson]"
HP:0010763,"""Insertion of the posterior columella below the nasal base."" [PMID:19152422]"
HP:0010764,"""Decreased length of the eyelashes (subjective)."" [HPO:probinson]"
HP:0010765,"""Abnormal thickening of the skin localized to the palm of the hand."" [HPO:probinson]"
HP:0010766,"""Deposition of calcium salts in a tissue or location in which calcification does not normally occur."" [HPO:probinson]"
HP:0010767,"""The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds."" [HPO:probinson]"
HP:0010769,"""A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris."" [HPO:probinson]"
HP:0010770,Pilonidal fistula
HP:0010771,"""A hair-containing cyst or sinus usually in the coccygeal region."" [HPO:probinson]"
HP:0010772,"""A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood."" [HPO:probinson]"
HP:0010773,"""A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung."" [HPO:probinson]"
HP:0010774,"""The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name)."" [DDD:dbrown, HPO:probinson]"
HP:0010775,"""A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails."" [HPO:probinson]"
HP:0010776,"""Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection."" [HPO:probinson]"
HP:0010777,"""Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection."" [HPO:probinson]"
HP:0010778,"""Marked widening of the trachea."" [HPO:probinson]"
HP:0010779,"""The presence of an abnormally large pelvis."" [HPO:probinson]"
HP:0010780,"""Over-sensitivity to certain frequency ranges of sound."" [HPO:probinson, PMID:14645606, PMID:14647932, PMID:31669363]"
HP:0010781,"""Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation."" [HPO:probinson]"
HP:0010782,"""A subtype of skin dimples occurring in the shoulder region."" [HPO:probinson, PMID:22679172]"
HP:0010783,"""Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin."" [HPO:probinson, ORCID:0000-0002-6548-5200]"
HP:0010784,"""A tumor (abnormal growth of tissue) of the uterus."" [HPO:probinson]"
HP:0010785,"""A tumor (abnormal growth of tissue) of a gonad."" [HPO:probinson]"
HP:0010786,"""The presence of a neoplasm of the urinary system."" [HPO:probinson]"
HP:0010787,"""A tumor (abnormal growth of tissue) of the genital system."" [HPO:probinson]"
HP:0010788,"""The presence of a neoplasm of the testis."" [HPO:probinson]"
HP:0010789,Abnormality of the Leydig cells
HP:0010790,"""Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone."" [HPO:probinson]"
HP:0010791,"""Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone."" [HPO:probinson]"
HP:0010793,"""A digit with two nails, with at least some soft tissue between them."" [PMID:19125433]"
HP:0010794,"""Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities)."" [HPO:sdoelken, PMID:10521286]"
HP:0010795,"""A glioma affecting the cerebellum."" [HPO:probinson]"
HP:0010796,"""A glioma affecting the brainstem."" [HPO:probinson]"
HP:0010797,"""A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter."" [HPO:probinson]"
HP:0010798,"""Increased focal pigmentation of the vermilion of the lips."" [PMID:19125428]"
HP:0010799,"""A neoplasm of the pineal gland."" [HPO:probinson]"
HP:0010800,"""Lack of paramedian peaks and median notch of the upper lip vermilion."" [PMID:19125428]"
HP:0010801,"""Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure)."" [PMID:19125428]"
HP:0010802,"""Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips."" [PMID:19125428]"
HP:0010803,"""Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip."" [HPO:probinson, PMID:19125428]"
HP:0010804,"""Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base."" [PMID:19125428]"
HP:0010805,"""Oral commissures positioned superior to the midline labial fissure."" [PMID:19125428]"
HP:0010806,"""Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures."" [PMID:19125428]"
HP:0010807,"""Visible space between the dental arches in occlusion."" [PMID:19125428]"
HP:0010808,"""Tongue extending beyond the alveolar ridges or teeth at rest."" [PMID:19125428]"
HP:0010809,"""Increased width of the uvula (subjective finding)."" [PMID:19125428]"
HP:0010810,"""Increased length of the uvula."" [PMID:19125428]"
HP:0010811,"""Decreased width of the uvula."" [PMID:19125428]"
HP:0010812,"""Decreased length of the uvula."" [PMID:19125428]"
HP:0010813,"""More than two clockwise hair whorls."" [PMID:19125436]"
HP:0010814,"""Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull."" [PMID:19125436]"
HP:0010815,"""A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly."" [HPO:probinson]"
HP:0010816,"""Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood."" [HPO:probinson, PMID:20542174]"
HP:0010817,"""A type of nevus sebaceous with a linear form, raised borders and yellowish color."" [HPO:probinson]"
HP:0010818,"""A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities."" [HPO:jalbers, HPO:probinson, PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0010819,"""Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature."" [HPO:jalbers, HPO:probinson, ORCID:0000-0002-1735-8178, PMID:11580774]"
HP:0010820,"""Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present."" [HPO:probinson, PMID:28276060, PMID:993803]"
HP:0010821,"""Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'."" [HPO:probinson, PMID:28276060, PMID:28276064]"
HP:0010822,"""A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights."" [HPO:probinson]"
HP:0010823,"""An overlap of the bony plates of the skull in an infant, with or without early closure."" [HPO:probinson]"
HP:0010824,"""Any structural abormality of the fifth cranial nerve."" [HPO:probinson]"
HP:0010825,"""Abnormality of the eleventh cranial nerve."" [HPO:probinson]"
HP:0010826,"""Abnormality of the twelfth cranial nerve."" [HPO:probinson]"
HP:0010827,"""Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve."" [HPO:probinson]"
HP:0010828,"""Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions."" [HPO:probinson, PMID:12145388]"
HP:0010829,"""A reduced ability to discriminate between different temperatures."" [HPO:probinson]"
HP:0010830,"""A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus."" [HPO:probinson]"
HP:0010831,"""A loss or impairment of the sensation of the relative position of parts of the body and joint position."" [HPO:probinson]"
HP:0010832,"""Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain."" [HPO:probinson]"
HP:0010833,"""Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger."" [HPO:probinson]"
HP:0010834,"""Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails."" [HPO:probinson]"
HP:0010835,"""A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa."" [HPO:probinson]"
HP:0010836,"""An abnormal concentration of copper."" [HPO:probinson]"
HP:0010837,"""Decreased concentration of ceruloplasmin in the blood."" [HPO:probinson, PMID:32119309]"
HP:0010838,"""An increased concentration of non ceruloplasmin bound copper in the blood."" [HPO:probinson]"
HP:0010839,"""An increased concentration of copper in the urine."" [HPO:probinson]"
HP:0010841,"""An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)."" [HPO:probinson]"
HP:0010843,"""Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy)."" [HPO:probinson]"
HP:0010844,"""Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."" [HPO:jalbers]"
HP:0010845,"""Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."" [HPO:probinson]"
HP:0010846,EEG with persistent abnormal rhythmic activity
HP:0010847,"""The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG)."" [HPO:probinson]"
HP:0010848,"""The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG)."" [HPO:probinson]"
HP:0010849,"""The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG)."" [HPO:probinson]"
HP:0010850,"""Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."" [HPO:probinson]"
HP:0010851,"""The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes."" [HPO:probinson, PMID:22323592]"
HP:0010852,"""EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns."" [HPO:probinson]"
HP:0010853,"""Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds)."" [HPO:probinson]"
HP:0010854,"""An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."" [HPO:probinson]"
HP:0010855,"""An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."" [HPO:probinson]"
HP:0010856,"""Periodically occurring generalized periodic complexes."" [HPO:jalbers]"
HP:0010857,"""Periodically recurring abnormalities in the EEG."" [HPO:probinson]"
HP:0010858,"""Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."" [HPO:probinson]"
HP:0010859,"""A kind of breech presentation in which the hips are flexed and the knees are extended."" [HPO:curators]"
HP:0010860,"""A kind of breech presentation in which the hips are flexed and the knees are flexed."" [HPO:probinson]"
HP:0010861,"""A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal."" [HPO:probinson]"
HP:0010862,"""A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands."" [HPO:probinson]"
HP:0010863,"""A delay in the acquisition of the ability to understand the speech of others."" [HPO:probinson]"
HP:0010864,"""Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34."" [HPO:probinson]"
HP:0010865,"""An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents."" [DSM:313.81, HPO:probinson]"
HP:0010866,"""An incomplete closure of the abdominal wall."" [HPO:probinson]"
HP:0010867,"""A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts."" [HPO:probinson]"
HP:0010868,"""A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field."" [HPO:probinson]"
HP:0010869,"""A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed."" [HPO:probinson]"
HP:0010871,"""Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms."" [HPO:probinson]"
HP:0010872,"""An inversion of the T-wave (which is normally positive)."" [HPO:probinson]"
HP:0010873,"""Atrophy of the cervical segment of the spinal cord."" [HPO:probinson]"
HP:0010874,"""The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows)."" [HPO:probinson]"
HP:0010875,"""A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract."" [HPO:probinson]"
HP:0010876,"""An abnormal level of a circulating protein in the blood."" [HPO:probinson]"
HP:0010877,"""A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times."" [HPO:probinson]"
HP:0010878,"""The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas."" [emedicine:402757, HPO:probinson]"
HP:0010879,Postnatal cystic hygroma
HP:0010880,"""Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy)."" [HPO:probinson, PMID:12751779, PMID:15846173, PMID:28511453]"
HP:0010881,"""An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta."" [HPO:probinson]"
HP:0010882,"""A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop."" [HPO:probinson]"
HP:0010883,"""A congenital disorder of the aortic valve in which the orifice of the valve fails to develop."" [HPO:probinson]"
HP:0010884,"""Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs."" [HPO:probinson]"
HP:0010885,"""A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply."" [HPO:sdoelken]"
HP:0010886,"""A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage."" [HPO:sdoelken]"
HP:0010888,"""Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis."" [HPO:sdoelken]"
HP:0010889,"""Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum."" [HPO:sdoelken]"
HP:0010890,"""Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae."" [HPO:sdoelken]"
HP:0010891,"""A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays)."" [HPO:sdoelken]"
HP:0010892,"""Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation."" [HPO:probinson]"
HP:0010893,"""Any deviation from the normal concentration of phenylalanine in the blood circulation."" [HPO:probinson]"
HP:0010894,"""Any deviation from the normal concentration of a serine family amino acid in the blood circulation."" [HPO:probinson]"
HP:0010895,"""Any deviation from the normal concentration of glycine in the blood circulation."" [HPO:gcarletti]"
HP:0010896,"""An elevated plasma concentration of sarcosine."" [HPO:gcarletti]"
HP:0010897,"""An elevated urinary concentration of sarcosine."" [HPO:gcarletti]"
HP:0010898,"""An deviation from the normal concentration of sarcosine in the blood circulation."" [HPO:probinson]"
HP:0010899,"""Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation."" [HPO:probinson]"
HP:0010900,"""Any deviation from the normal concentration of threonine in the blood circulation."" [HPO:probinson]"
HP:0010901,"""Any deviation from the normal concentration of methionine in the blood circulation."" [HPO:probinson]"
HP:0010902,"""Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation."" [HPO:probinson]"
HP:0010903,"""Any deviation from the normal concentration of glutamine in the blood circulation."" [HPO:probinson]"
HP:0010904,"""An abnormality of a histidine metabolic process."" [HPO:probinson]"
HP:0010906,"""An increased concentration of histidine in the blood."" [HPO:gcarletti]"
HP:0010907,"""Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation."" [HPO:gcarletti]"
HP:0010908,"""Any deviation from the normal concentration of lysine in the blood circulation."" [HPO:gcarletti]"
HP:0010909,"""Any deviation from the normal concentration of arginine in the blood circulation."" [HPO:probinson]"
HP:0010910,"""An increased concentration of valine in the blood."" [HPO:gcarletti]"
HP:0010911,"""An increased concentration of leucine in the blood."" [HPO:gcarletti]"
HP:0010912,"""Any deviation from the normal concentration of isoleucine in the blood circulation."" [HPO:probinson]"
HP:0010913,"""An increased concentration of isoleucine in the blood."" [HPO:gcarletti]"
HP:0010914,"""Any deviation from the normal circulation of valine in the blood circulation."" [HPO:probinson]"
HP:0010915,"""An abnormality of a pyruvate family amino acid metabolic process."" [HPO:probinson]"
HP:0010916,"""An abnormality of an alanine metabolic process."" [HPO:gcarletti]"
HP:0010917,"""Any deviation from the normal concentration of tyrosine in the blood circulation."" [HPO:probinson]"
HP:0010918,"""An abnormality of a cysteine metabolic process."" [HPO:probinson]"
HP:0010919,"""An abnormality of a homocysteine metabolic process."" [HPO:probinson]"
HP:0010920,"""Zonular cataracts are defined to be cataracts that affect specific regions of the lens."" [HPO:probinson, HPO:vkumar, PMID:18035564]"
HP:0010921,"""A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form."" [HPO:probinson, HPO:vkumar]"
HP:0010922,"""A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens."" [HPO:probinson, PMID:17539799]"
HP:0010923,"""A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule."" [HPO:probinson]"
HP:0010924,"""A cataract that affects the posterior part of the cortex of the lens."" [HPO:probinson]"
HP:0010925,Nuclear punctate cataract
HP:0010926,"""A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens."" [HPO:probinson, PMID:10521291, PMID:9718335]"
HP:0010927,"""An abnormality of divalent inorganic cation homeostasis."" [HPO:probinson]"
HP:0010929,"""An abnormality of cation homeostasis."" [HPO:probinson]"
HP:0010930,"""An abnormality of monovalent inorganic cation homeostasis."" [HPO:probinson]"
HP:0010931,"""An abnormal concentration of sodium."" [HPO:probinson]"
HP:0010932,"""An abnormality of a nucleobase metabolic process."" [HPO:probinson]"
HP:0010933,"""An increased level of xanthine in the blood circulation."" [HPO:probinson, PMID:9153281]"
HP:0010934,"""An increased concentration of xanthine in the urine."" [HPO:gcarletti]"
HP:0010935,"""An abnormality of the upper urinary tract."" [HPO:probinson]"
HP:0010936,"""An abnormality of the lower urinary tract."" [HPO:probinson]"
HP:0010937,"""An abnormality of the nasal skeleton."" [HPO:probinson]"
HP:0010938,"""An abnormality of the external nose."" [HPO:probinson]"
HP:0010939,"""An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone."" [HPO:probinson]"
HP:0010940,"""Absence or underdevelopment of the nasal bone."" [HPO:probinson]"
HP:0010941,"""Absence of the nasal bone."" [HPO:probinson]"
HP:0010942,"""A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart."" [HPO:probinson, PMID:16100637, PMID:9527573]"
HP:0010943,"""Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone."" [HPO:probinson, PMID:16100637, PMID:20175047]"
HP:0010944,"""An abnormality of the renal pelvis."" [HPO:probinson]"
HP:0010945,"""Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement."" [HPO:probinson, PMID:16100637]"
HP:0010946,"""The presence of dilatation of the renal pelvis."" [HPO:probinson]"
HP:0010947,"""A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus."" [HPO:probinson, PMID:16449256, PMID:21048453]"
HP:0010948,"""A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."" [DDD:dbrown, HPO:probinson]"
HP:0010949,"""A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein."" [HPO:probinson]"
HP:0010950,"""An abnormality of the fourth ventricle."" [HPO:probinson]"
HP:0010951,"""An abnormality of the third ventricle."" [HPO:probinson]"
HP:0010952,"""A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637)."" [HPO:probinson, PMID:16100637]"
HP:0010953,"""A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed."" [eMedicine:1135286, HPO:probinson]"
HP:0010954,"""Underdevelopment of the right-sided structures of the heart."" [HPO:probinson]"
HP:0010955,"""The presence of a dilated urinary bladder."" [HPO:probinson]"
HP:0010956,"""Fetal megacystis is an abnormally enlarged bladder identified at any gestational age."" [HPO:probinson, PMID:20837325]"
HP:0010957,"""A developmental defect resulting in an obstructing membrane in the posterior male urethra."" [eMedicine:1016086, HPO:probinson]"
HP:0010958,"""A bilateral form of agenesis of the kidney."" [HPO:probinson]"
HP:0010959,"""Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles."" [HPO:probinson, PMID:28638495]"
HP:0010960,"""The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree."" [HPO:probinson, PMID:20610189]"
HP:0010961,"""A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung."" [HPO:probinson, PMID:20610189]"
HP:0010962,"""A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura."" [HPO:probinson, PMID:20610189]"
HP:0010963,"""By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation."" [HPO:probinson, PMID:20538709]"
HP:0010964,"""Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation."" [HPO:probinson]"
HP:0010965,"""Any deviation from the normal concentration of phytanic acid in the blood circulation."" [HPO:probinson]"
HP:0010966,"""Any deviation from the normal concentration of a fatty acid anion in the blood circulation."" [HPO:probinson]"
HP:0010967,"""Any deviation from the normal concentration of carnitine in the blood circulation."" [HPO:gcarletti]"
HP:0010968,"""An abnormality of liposaccharide metabolism."" [HPO:probinson]"
HP:0010969,"""An abnormality of glycolipid metabolism."" [HPO:probinson]"
HP:0010970,"""An abnormality of an erythrocyte cell surface molecule."" [HPO:probinson]"
HP:0010971,"""Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells."" [HPO:probinson]"
HP:0010972,"""A kind of anemia characterized by inadequate production of erythrocytes."" [HPO:probinson]"
HP:0010974,"""An abnormality of myeloid leukocytes."" [HPO:probinson]"
HP:0010975,"""A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells."" [HPO:probinson, MP:0002458]"
HP:0010976,"""An abnormal decrease from the normal count of B cells."" [HPO:probinson]"
HP:0010977,"""An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation."" [HPO:probinson, PMID:28691037]"
HP:0010978,"""A functional abnormality of the immune system."" [HPO:probinson, MP:0001790]"
HP:0010979,"""An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood."" [HPO:probinson]"
HP:0010980,"""An abnormal increase in the level of lipoprotein cholesterol in the blood."" [HPO:probinson]"
HP:0010981,"""An abnormal decrease in the level of lipoprotein cholesterol in the blood."" [HPO:proteinemia]"
HP:0010982,"""A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci."" [HPO:probinson, ISBN:978-0192628961]"
HP:0010983,"""A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform."" [HPO:probinson, ISBN:978-0192628961]"
HP:0010984,"""A type of multifactorial inheritance governed by the simultaneous action of two gene loci."" [HPO:probinson, ISBN:978-0192628961]"
HP:0010987,"""An abnormality of the morphology or counts of the cells that make up the immune system."" [HPO:probinson]"
HP:0010988,"""An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade."" [HPO:probinson]"
HP:0010989,"""An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade."" [HPO:probinson]"
HP:0010990,"""An abnormality of blood coagulation, common pathway."" [HPO:probinson]"
HP:0010991,"""An abnormality of the abdominal musculature."" [HPO:probinson]"
HP:0010992,"""Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing."" [HPO:probinson, PMID:12559262]"
HP:0010993,"""An abnormality of the cerebral subcortex."" [HPO:probinson]"
HP:0010994,"""Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens."" [HPO:probinson, PMID:21469956]"
HP:0010995,"""Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation."" [HPO:probinson]"
HP:0010996,"""Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation."" [HPO:gcarletti]"
HP:0010997,"""Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation."" [HPO:sdoelken, PMID:16814619]"
HP:0010998,"""An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells."" [HPO:sdoelken]"
HP:0010999,Aplasia of the optic tract
HP:0011000,Aplasia/Hypoplasia of the optic tract
HP:0011001,"""An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones."" [HPO:probinson]"
HP:0011002,"""Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal."" [HPO:probinson]"
HP:0011003,"""A severe form of myopia with greater than -6.00 diopters."" [DDD:ncarter]"
HP:0011004,"""An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries."" [HPO:probinson]"
HP:0011005,"""A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes."" [HPO:probinson]"
HP:0011006,"""An abnormality of the neck musculature."" [HPO:probinson]"
HP:0011008,"""The speed at which disease manifestations appear and develop."" [HPO:probinson]"
HP:0011009,"""Sudden appearance of disease manifestations over a short period of time."" [HPO:probinson]"
HP:0011010,"""Slow, creeping onset, slow progress and long continuance of disease manifestations."" [HPO:probinson]"
HP:0011011,"""Somewhat rapid onset and change of disease manifestations."" [HPO:probinson]"
HP:0011012,"""A deviation from the normal concentration of a polysaccharide in the blood circulation."" [HPO:probinson]"
HP:0011013,"""A deviation from the normal concentration of a carbohydrate in the blood circulation."" [HPO:probinson]"
HP:0011014,"""Abnormality of glucose homeostasis."" [HPO:probinson]"
HP:0011015,"""An abnormality of the concentration of glucose in the blood."" [HPO:probinson]"
HP:0011017,"""An abnormality in a cellular process."" [HPO:probinson]"
HP:0011018,"""An abnormality of the cell cycle."" [HPO:probinson]"
HP:0011019,"""An abnormality of chromosome condensation."" [HPO:probinson]"
HP:0011020,"""An abnormality of the metabolism of mucopolysaccharide."" [HPO:probinson]"
HP:0011021,Abnormality of circulating enzyme level
HP:0011022,"""A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation."" [HPO:probinson]"
HP:0011023,"""Any deviation from the normal concentration of a prostaglandin in the blood circulation."" [HPO:probinson]"
HP:0011024,"""An abnormality of the gastrointestinal tract."" [HPO:probinson]"
HP:0011025,"""Abnormal functionality of the cardiovascular system."" [HPO:probinson]"
HP:0011026,"""Aplasia or developmental hypoplasia of the vagina."" [HPO:probinson]"
HP:0011027,"""An abnormality of the fallopian tube."" [HPO:probinson]"
HP:0011028,"""An abnormality of blood circulation."" [HPO:probinson]"
HP:0011029,"""The presence of hemorrhage within the body."" [HPO:probinson]"
HP:0011030,"""An abnormality of the homeostasis (concentration) of transition element cation."" [HPO:probinson]"
HP:0011031,"""An abnormality of the homeostasis (concentration) of iron cation."" [HPO:probinson]"
HP:0011032,"""An abnormality of the regulation of body fluids."" [HPO:probinson]"
HP:0011033,"""An impairment of a fructose metabolic process."" [HPO:probinson]"
HP:0011034,"""The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body."" [HPO:probinson, PMID:21039326]"
HP:0011035,"""An abnormality of the cortex of the kidney."" [HPO:probinson]"
HP:0011036,"""An altered ability of the kidneys to void urine and/or specific substances."" [HPO:probinson]"
HP:0011037,"""A decreased rate of urine production."" [HPO:probinson]"
HP:0011038,"""An abnormality of renal absorption."" [HPO:probinson]"
HP:0011039,"""An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe."" [HPO:probinson]"
HP:0011040,"""An abnormality of the intrahepatic bile duct."" [HPO:probinson]"
HP:0011041,"""Aplasia or developmental hypoplasia of the cervical vertebral column."" [HPO:probinson]"
HP:0011042,"""An abnormal concentration of potassium."" [HPO:probinson]"
HP:0011043,"""An abnormal concentration of corticotropin in the blood."" [HPO:probinson]"
HP:0011044,"""The presence of an altered number of of permanent teeth."" [HPO:ibailleulforestier]"
HP:0011045,"""Agenesis of upper secondary incisor."" [HPO:ibailleulforestier]"
HP:0011046,"""Agenesis of upper central primary incisor."" [HPO:ibailleulforestier]"
HP:0011047,"""Agenesis of lower primary incisor."" [HPO:ibailleulforestier]"
HP:0011048,"""Agenesis of lower secondary incisor."" [HPO:ibailleulforestier]"
HP:0011049,"""Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor."" [HPO:ibailleulforestier]"
HP:0011050,"""Agenesis of one or more upper lateral secondary incisor."" [HPO:ibailleulforestier]"
HP:0011051,"""Agenesis of premolar tooth."" [HPO:ibailleulforestier]"
HP:0011052,"""Agenesis of maxillary premolar."" [HPO:ibailleulforestier]"
HP:0011053,"""Agenesis of mandibular premolar."" [HPO:ibailleulforestier]"
HP:0011054,"""Agenesis of molar tooth."" [HPO:ibailleulforestier]"
HP:0011055,"""Agenesis of secondary molar tooth."" [HPO:ibailleulforestier]"
HP:0011056,"""Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both."" [HPO:ibailleulforestier]"
HP:0011057,"""Agenesis of either mandibular second permanent molar or maxillary second permanent molar."" [HPO:ibailleulforestier]"
HP:0011058,"""A generalized form of periodontitis."" [HPO:ibailleulforestier]"
HP:0011059,"""A localized form of periodontitis."" [HPO:ibailleulforestier]"
HP:0011060,"""Developmental dysplasia of dentin affecting only the primary dentition."" [HPO:ibailleulforestier]"
HP:0011061,"""An abnormality of the structure or composition of the teeth."" [HPO:ibailleulforestier]"
HP:0011062,"""Misaligned incisor."" [HPO:ibailleulforestier]"
HP:0011063,"""An abnormality of morphology of the incisor tooth."" [HPO:ibailleulforestier]"
HP:0011064,"""The presence of an altered number of the incisor teeth."" [HPO:ibailleulforestier]"
HP:0011065,"""An abnormal conical morphology of the incisor tooth."" [HPO:ibailleulforestier]"
HP:0011067,"""A supernumerary tooth in the midline between the maxillary central incisors."" [HPO:ibailleulforestier, PMID:18262485, PMID:31468724]"
HP:0011068,"""The presence of an odontoma."" [HPO:ibailleulforestier]"
HP:0011069,"""The presence of one or more teeth additional to the normal number."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0011070,"""An abnormality of morphology of molar tooth."" [HPO:ibailleulforestier]"
HP:0011071,"""An abnormality of morphology of permanent molar."" [HPO:ibailleulforestier]"
HP:0011072,Rootless teeth
HP:0011073,"""A developmental defect of tooth color."" [HPO:ibailleulforestier]"
HP:0011074,"""A localized form of developmental hypoplasia of the dental enamel."" [HPO:ibailleulforestier]"
HP:0011075,"""A green staining of teeth."" [PMID:12686928]"
HP:0011076,"""An abnormality of premolar tooth."" [HPO:ibailleulforestier]"
HP:0011077,"""An abnormality of molar tooth."" [HPO:ibailleulforestier]"
HP:0011078,"""An abnormality of canine tooth."" [HPO:ibailleulforestier]"
HP:0011079,"""A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth)."" [HPO:ibailleulforestier]"
HP:0011080,"""An abnormality of morphology of premolar tooth."" [HPO:ibailleulforestier]"
HP:0011081,"""Increased size of the incisor tooth."" [HPO:ibailleulforestier]"
HP:0011082,"""An abnormal conical morphology of the primary incisor."" [HPO:ibailleulforestier]"
HP:0011083,"""An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both."" [HPO:ibailleulforestier]"
HP:0011084,"""A form of hypomineralization of enamel characterized by reduced calcification."" [PMID:18499550]"
HP:0011085,"""A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color."" [HPO:ibailleulforestier]"
HP:0011086,"""Developmental dysplasia of dentin or both the primary dentition and the permanent dentition."" [HPO:ibailleulforestier]"
HP:0011087,"""Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown)."" [HPO:ibailleulforestier]"
HP:0011088,"""An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0011089,"""Fusion of two adjacent teeth."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0011090,"""The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch."" [PMID:18167487]"
HP:0011091,"""The development of two teeth from a single tooth bud, leading to a larger fused tooth."" [PMID:18167487]"
HP:0011092,"""Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry."" [HPO:19179952]"
HP:0011093,"""Increased size and molar morphology of premolar tooth."" [HPO:ibailleulforestier, PMID:15587104]"
HP:0011094,"""Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm."" [HPO:ibailleulforestier, PMID:31468724]"
HP:0011095,"""An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure."" [HPO:ibailleulforestier]"
HP:0011096,"""A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system."" [HPO:probinson]"
HP:0011097,"""A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages"" [HPO:jalbers, PMID:28276060]"
HP:0011098,"""A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur."" [HPO:probinson]"
HP:0011099,"""Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes."" [HPO:probinson]"
HP:0011100,"""An abnormal closure, or atresia of the tubular structure of the intestine."" [HPO:probinson]"
HP:0011102,"""An abnormal closure, or atresia of the tubular structure of the ileum."" [HPO:probinson]"
HP:0011103,"""An abnormality of the outflow tract of the left ventricle."" [HPO:probinson]"
HP:0011104,"""An abnormality in the amount of volume occupied by intravascular blood."" [HPO:probinson]"
HP:0011105,"""An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood."" [HPO:probinson]"
HP:0011106,"""An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood."" [HPO:probinson]"
HP:0011107,"""Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border."" [HPO:probinson]"
HP:0011108,"""A recurrent form of sinusitis."" [HPO:probinson]"
HP:0011109,"""A chronic form of sinusitis."" [HPO:probinson]"
HP:0011110,"""Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis."" [HPO:probinson, PMID:15897415]"
HP:0011111,"""An abnormality of the concentration or function of circulating immune proteins."" [HPO:probinson]"
HP:0011112,"""Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells."" [HPO:probinson]"
HP:0011113,"""An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells)."" [HPO:probinson]"
HP:0011114,"""An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha."" [HPO:probinson]"
HP:0011115,"""An abnormality in the production or cellular release of a chemokine (a class of cytokines)."" []"
HP:0011116,"""An abnormality in the production or cellular release of interferons (a class of cytokines)."" []"
HP:0011117,"""An abnormality in the production or cellular release of interleukins (a class of cytokines)."" []"
HP:0011118,"""An abnormality in the production or cellular release of tumor necrosis factor."" []"
HP:0011119,"""An abnormality of the nasal dorsum, also known as the nasal ridge."" [HPO:probinson, PMID:19152422]"
HP:0011120,"""Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip."" [HPO:probinson, PMID:19152422]"
HP:0011121,"""Any morphological abnormality of the skin."" [HPO:probinson]"
HP:0011122,"""Any abnormality of the physiological function of the skin."" [HPO:probinson]"
HP:0011123,"""The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes."" [HPO:probinson]"
HP:0011124,"""An abnormality of the morphology of the epidermis."" [HPO:probinson]"
HP:0011125,"""An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis)."" [HPO:probinson]"
HP:0011126,"""A significant descent of the kidney as the patient moves from the supine to the erect position."" [HPO:probinson, PMID:18990154]"
HP:0011127,"""A type of eczema that occurs in the lips and perioral area."" [HPO:probinson]"
HP:0011128,"""A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction."" [HPO:probinson, PMID:17322991]"
HP:0011129,"""A bilateral form of fetal pyelectasis."" [HPO:probinson]"
HP:0011130,"""Any abnormality of the morphology of the major calices or minor calices of the kidney."" [HPO:probinson]"
HP:0011131,"""The presence of a rash (change of color and texture) of the perianal skin."" [HPO:probinson]"
HP:0011132,"""A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection."" [HPO:probinson]"
HP:0011133,"""An abnormally increased sensitivity to the effects of ionizing radiation."" [HPO:probinson]"
HP:0011134,"""Mild fever that does not exceed 38.5 degrees centigrade."" [HPO:probinson]"
HP:0011135,"""Absence or developmental hypoplasia of the sweat glands."" [HPO:probinson]"
HP:0011136,"""Absence of the sweat glands."" [HPO:probinson]"
HP:0011137,"""Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus."" [HPO:probinson]"
HP:0011138,"""An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands."" [HPO:probinson]"
HP:0011139,"""Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach."" [HPO:probinson]"
HP:0011140,"""A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus."" [HPO:probinson, PMID:21218094]"
HP:0011141,"""A type of cataract (opacification of the lens) that forms during the course of aging."" [HPO:probinson, PMID:15708105]"
HP:0011142,"""A type of age-related cataract that primarily affects the nucleus of the lens."" [HPO:probinson, PMID:15708105]"
HP:0011143,"""A type of age-related cataract that primarily affects the cortex of the lens."" [HPO:probinson, PMID:15708105]"
HP:0011144,"""A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule."" [HPO:probinson, PMID:15708105]"
HP:0011145,"""A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed."" [PMID:18184148]"
HP:0011146,"""A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event."" [PMID:9738682]"
HP:0011147,"""A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event."" [HPO:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275]"
HP:0011149,"""An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure."" [HPO:jalbers, PMID:19469840, PMID:28276060, PMID:28276062, PMID:28276064]"
HP:0011150,"""Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017."" [HPO:ihelbig, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609]"
HP:0011151,"""Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure."" [HPO:jalbers]"
HP:0011152,"""Typical absence seizures starting before the age of 4 years."" [HPO:ihelbig]"
HP:0011153,"""A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation."" [HPO:jalbers, ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0011154,"""An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature."" [HPO:jalbers, PMID:28276060, PMID:28276064]"
HP:0011157,"""A focal sensory seizure is a type seizure beginning with a subjective sensation."" [DDD:ssisodiya, HPO:jalbers, PMID:28276060, PMID:28276062, PMID:28276064]"
HP:0011158,"""A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation."" [HPO:jalbers, PMID:28276062, PMID:28276064]"
HP:0011159,"""A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature."" [HPO:jalbers, PMID:28276060]"
HP:0011160,"""A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation."" [HPO:jalbers, PMID:28276060]"
HP:0011161,"""Seizures characterized by olfactory phenomena as its first clinical manifestation."" [HPO:jalbers]"
HP:0011163,"""A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation."" [HPO:jalbers, PMID:28276060]"
HP:0011165,"""A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation."" [HPO:jalbers]"
HP:0011166,"""A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0011167,"""A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes."" [HPO:jalbers, PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0011168,"""Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures."" [HPO:ihelbig]"
HP:0011169,"""Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups."" [HPO:jalbers, PMID:28276060, PMID:28276064]"
HP:0011170,"""A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component."" [HPO:jalbers, PMID:28276060, PMID:28276064]"
HP:0011171,"""A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance."" [HPO:jalbers, PMID:19125841, PMID:6779259, PMID:972656]"
HP:0011172,"""A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period."" [HPO:jalbers, PMID:19125841, PMID:972656]"
HP:0011173,"""A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure."" [HPO:jalbers, PMID:28276060]"
HP:0011174,"""A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements."" [HPO:jalbers, PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0011175,"""A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation."" [HPO:jalbers]"
HP:0011176,"""An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic."" [HPO:jalbers]"
HP:0011177,"""EEG background activity at 4-5/second."" [HPO:jalbers]"
HP:0011178,"""EEG dominated by diffuse alpha-waves (8-13Hz)."" [HPO:jalbers]"
HP:0011179,"""EEG dominated by diffuse beta-waves (>13 Hz)."" [HPO:jalbers]"
HP:0011180,"""EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz)."" [HPO:jalbers]"
HP:0011181,"""EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz)."" [HPO:jalbers]"
HP:0011182,"""Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure."" [HPO:probinson]"
HP:0011183,"""Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."" [HPO:jalbers]"
HP:0011184,"""Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."" [HPO:jalbers]"
HP:0011185,"""EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."" [HPO:jalbers]"
HP:0011186,"""Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization."" [HPO:jalbers]"
HP:0011187,"""Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain."" [HPO:jalbers]"
HP:0011188,"""Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp."" [HPO:jalbers]"
HP:0011189,"""Epileptiform discharges being identified at multiple locations in both hemispheres."" [HPO:jalbers]"
HP:0011190,"""Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere."" [HPO:jalbers]"
HP:0011191,"""Epileptiform discharges being identified at multiple locations in one hemisphere."" [HPO:jalbers]"
HP:0011192,"""Focal epileptiform discharges of different shapes and frequencies."" [HPO:jalbers]"
HP:0011193,"""EEG with focal sharp transient waves of a duration less than 80 msec."" [HPO:jalbers]"
HP:0011194,"""Focal spikes occurring for several seconds."" [HPO:jalbers]"
HP:0011195,"""EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."" [HPO:jalbers]"
HP:0011196,"""EEG with focal sharp transient waves of a duration between 80 and 200 msec."" [HPO:jalbers]"
HP:0011197,"""EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave."" [HPO:jalbers]"
HP:0011198,"""EEG discharges recorded on the entire scalp typically seen in persons with epilepsy."" [HPO:jalbers]"
HP:0011199,"""EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."" [HPO:jalbers]"
HP:0011200,"""Generalized epileptiform discharges of different shapes and frequencies."" [HPO:jalbers]"
HP:0011201,"""EEG with abnormal amplitude."" [HPO:jalbers]"
HP:0011202,"""EEG frequency is abnormally increased."" [HPO:probinson]"
HP:0011203,"""EEG with abnormally slow frequencies."" [HPO:jalbers]"
HP:0011204,"""EEG showing diffuse slowing without interruption."" [HPO:jalbers]"
HP:0011205,"""Non-continuous diffuse slowing of electroencephalographic patterns."" [HPO:jalbers]"
HP:0011206,"""Slowing at frequencies between 7.5 and 8.5 Hz."" [HPO:jalbers]"
HP:0011207,"""Generalized slowing of EEG activity at frequencies between 4-7 Hz."" [HPO:jalbers]"
HP:0011208,"""Generalized slowing of EEG activity at frequencies between 0.5-3 Hz."" [HPO:jalbers]"
HP:0011209,"""EEG without electrical activity."" [HPO:jalbers]"
HP:0011210,"""Slowing in occipital areas of the scalp EEG."" [HPO:jalbers]"
HP:0011211,"""Occurrence of epileptiform discharges in occipital regions during photic stimulation."" [HPO:jalbers]"
HP:0011212,"""Occurence of epileptiform discharges in occipital and central regions during photic stimulation."" [HPO:jalbers]"
HP:0011213,"""Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation."" [HPO:jalbers]"
HP:0011214,"""Occurrence of generalized epileptiform discharges during photic stimulation."" [HPO:jalbers]"
HP:0011215,"""Hypsarrhythmia occurring in one hemisphere."" [HPO:jalbers]"
HP:0011217,"""An abnormal shape of occiput."" [HPO:probinson]"
HP:0011218,"""An abnormal shape of the frontal part of the head."" [HPO:probinson]"
HP:0011219,"""Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective)."" [PMID:19125436]"
HP:0011220,"""Forward prominence of the entire forehead, due to protrusion of the frontal bone."" [PMID:19125436]"
HP:0011221,"""Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest."" [PMID:19125436]"
HP:0011222,"""Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges."" [HPO:probinson, PMID:19125436]"
HP:0011223,"""Linear vertical groove in the midline of the forehead, extending from hairline to glabella."" [PMID:19125436]"
HP:0011224,"""Absent eyelids."" [PMID:19125427]"
HP:0011225,"""Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva."" [PMID:19125427]"
HP:0011226,"""Absence or underdevelopment of the eyelid."" [HPO:probinson]"
HP:0011227,"""An abnormal elevation of the C-reactive protein level in the blood circulation."" [HPO:probinson, PMID:28722873]"
HP:0011228,"""An eyebrow that extends straight across the brow, without curve."" [PMID:19125427]"
HP:0011229,"""Regional increase in the width (height) of the eyebrow."" [PMID:19125427]"
HP:0011230,"""An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location."" [PMID:19125427]"
HP:0011231,"""Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly."" [PMID:19125427]"
HP:0011232,"""Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge."" [PMID:19125427]"
HP:0011233,"""Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha."" [PMID:19152421]"
HP:0011234,"""No discernible ridge between concha and triangular fossa and helix."" [HPO:19152421]"
HP:0011235,"""Supernumerary ridge or crus of the ear arising from the antihelix."" [PMID:19152421]"
HP:0011236,"""Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc."" [PMID:19152421]"
HP:0011237,"""Increased width of the inferred cross-section of the inferior crus."" [PMID:19152421]"
HP:0011238,"""Increased protrusion of the inferior crus relative to the prominence of the antihelix stem."" [HPO:19152421]"
HP:0011239,"""Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem."" [PMID:19152421]"
HP:0011240,"""Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix."" [PMID:19152421]"
HP:0011241,"""Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha."" [PMID:19152421]"
HP:0011242,"""Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix."" [PMID:19152421]"
HP:0011243,"""An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa."" [HPO:probinson, PMID:19152421]"
HP:0011244,"""An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura."" [HPO:probinson]"
HP:0011245,"""An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa."" [HPO:probinson, PMID:19152421]"
HP:0011246,"""Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem."" [PMID:19152421]"
HP:0011247,"""Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem."" [PMID:19152421]"
HP:0011248,"""Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear)."" [PMID:19152421]"
HP:0011249,"""Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix."" [PMID:19152421]"
HP:0011250,"""Double rather than single peak of the antitragus."" [PMID:19152421]"
HP:0011251,"""Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix."" [HPO:probinson, PMID:19152421]"
HP:0011252,"""Invagination of the superior part of the auricle under a fold of temporal skin."" [PMID:19152421]"
HP:0011253,"""A type of cryptotia associated with reduction in size of the antihelix and superior crus."" [HPO:probinson]"
HP:0011254,"""A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected."" [HPO:probinson]"
HP:0011255,"""Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha."" [PMID:19152421]"
HP:0011256,"""Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix."" [PMID:19152421]"
HP:0011257,"""Curving course of the crus of the helix, approaching or joining the antitragus."" [PMID:19152421]"
HP:0011258,"""The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix."" [PMID:19152421]"
HP:0011259,"""Widening, rather than tapering, of the crus at its posterior border near the antihelix."" [PMID:19152421]"
HP:0011260,"""Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix."" [PMID:19152421]"
HP:0011261,"""Small expansion of the helical fold at the junction of the superior and descending portions of the helix."" [PMID:19152421]"
HP:0011262,"""Linear, circumferential indentation in the convexity of the outer surface of the helix."" [PMID:19152421]"
HP:0011263,"""Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear."" [HPO:probinson, PMID:19152421]"
HP:0011264,"""Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid."" [PMID:19152421]"
HP:0011265,"""Discontinuity in the convexity of the inferior margin of the lobe."" [PMID:19152421]"
HP:0011266,"""Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean."" [PMID:19152421]"
HP:0011267,"""Presence of some auricular structures, but none of these structures conform to recognized ear components."" [PMID:19152421]"
HP:0011268,"""Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix."" [PMID:19152421]"
HP:0011269,"""Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak."" [PMID:19152421]"
HP:0011270,"""A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus."" [PMID:19152421]"
HP:0011271,"""Increase posterolateral protrusion of the tragus."" [PMID:19152421]"
HP:0011272,"""Decreased posterolateral protrusion of the tragus."" [PMID:19152421]"
HP:0011273,"""Abnormally increased variability in the size of erythrocytes."" [HPO:probinson]"
HP:0011274,"""Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection."" [HPO:probinson]"
HP:0011275,"""Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection."" [HPO:probinson]"
HP:0011276,Vascular skin abnormality
HP:0011277,Abnormality of the urinary system physiology
HP:0011278,"""A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree."" [HPO:probinson]"
HP:0011279,"""An abnormal amount of hydrogencarbonate in the urine."" [HPO:probinson]"
HP:0011280,"""An abnormality of calcium concentration in the urine."" [HPO:probinson]"
HP:0011281,"""An abnormal amount of urinary catecholamine concentration."" [HPO:probinson]"
HP:0011282,"""An abnormality of the hindbrain, also known as the rhombencephalon."" [HPO:probinson]"
HP:0011283,"""An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum."" [HPO:probinson]"
HP:0011284,"""A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid."" [HPO:probinson, PMID:17965226]"
HP:0011285,"""A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid."" [HPO:probinson]"
HP:0011286,"""A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon."" [HPO:probinson]"
HP:0011287,"""EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."" [HPO:jalbers]"
HP:0011288,"""EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."" [HPO:jalbers]"
HP:0011289,"""EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."" [HPO:jalbers]"
HP:0011290,"""EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."" [HPO:jalbers]"
HP:0011291,"""EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."" [HPO:jalbers]"
HP:0011292,"""EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec."" [HPO:jalbers]"
HP:0011293,"""EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec."" [HPO:jalbers]"
HP:0011294,"""EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec."" [HPO:jalbers]"
HP:0011295,"""EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec."" [HPO:jalbers]"
HP:0011296,"""EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec."" [HPO:jalbers]"
HP:0011297,"""A morphological abnormality of a digit, i.e., of a finger or toe."" [HPO:probinson]"
HP:0011298,"""A soft tissue prominence of the ventral aspects of the fingertips or toe tips."" [PMID:19125433]"
HP:0011299,"""The absence of a phalangeal segment of a finger."" [PMID:19125433]"
HP:0011300,"""Increased width of the distal segment of a finger."" [PMID:19125433]"
HP:0011301,"""The total absence of the foot, with no bony elements distal to the tibia or fibula."" [PMID:19125433]"
HP:0011302,"""For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length."" [PMID:19125433]"
HP:0011303,"""The contour of the foot in lateral profile has a convex shape."" [PMID:19125433]"
HP:0011304,"""Increased thumb width without increased dorso-ventral dimension."" [PMID:19125433]"
HP:0011305,"""The absence of a phalangeal segment of a toe or hallux."" [PMID:19125433]"
HP:0011307,"""Divergence of digits along the anteroposterior axis (in the plane of the sole)."" [PMID:19125433]"
HP:0011308,"""Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual."" [PMID:19125433]"
HP:0011309,"""The gradual reduction in girth of the toe from proximal to distal."" [PMID:19125433]"
HP:0011310,"""A crease that connects the proximal and distal transverse palmar creases."" [PMID:19125433]"
HP:0011311,"""Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm."" [PMID:19125433]"
HP:0011312,"""A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature."" [PMID:19125433]"
HP:0011313,"""Decreased width of nail."" [PMID:19125433]"
HP:0011314,"""An abnormality of size or shape of the long bones."" [HPO:probinson]"
HP:0011315,"""Synostosis affecting only one of the coronal sutures."" [DDD:awilkie]"
HP:0011316,"""Synostosis affecting only the left coronal suture."" [DDD:awilkie]"
HP:0011317,"""Unicoronal synostosis affecting only the right coronal suture."" [DDD:awilkie]"
HP:0011318,"""Synostosis affecting the right and the left coronal suture."" [DDD:awilkie]"
HP:0011319,"""Premature synostosis of both lambdoid sutures."" [DDD:awilkie]"
HP:0011320,"""Premature synostosis of only one lambdoid suture."" [DDD:awilkie]"
HP:0011321,"""Premature synostosis of only the left lambdoid suture."" [DDD:awilkie]"
HP:0011322,"""Premature synostosis of only the right lambdoid suture."" [DDD:awilkie]"
HP:0011323,"""Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin."" [DDD:jclayton-smith]"
HP:0011324,"""Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified."" [DDD:awilkie]"
HP:0011325,"""Craniosynostosis of all calvarial sutures."" [DDD:awilkie]"
HP:0011326,"""Asymmetry of the anterior part of the skull."" [DDD:awilkie]"
HP:0011327,"""Asymmetry of the posterior part of the skull."" [DDD:awilkie, PMID:10876272]"
HP:0011328,"""An abnormality of the fontanelle."" [HPO:probinson, PMID:12825844]"
HP:0011329,"""Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant."" [HPO:probinson]"
HP:0011330,"""Premature fusion of the metopic suture."" [DDD:awilkie]"
HP:0011331,"""Unilateral atrophy of facial tissues, including muscles, bones and skin."" [DDD:awilkie]"
HP:0011332,"""Unilateral underdevelopment of the facial tissues, including muscles and bones."" [DDD:awilkie]"
HP:0011333,"""Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side."" [HPO:cwright]"
HP:0011334,Facial shape deformation
HP:0011335,"""Excessive amount of hair growth on forehead."" [DDD:jclayton-smith]"
HP:0011336,"""Bilateral temporal scarlike defects, which are said to resemble forceps marks."" [DDD:jclayton-smith, PMID:1401310]"
HP:0011337,Abnormality of mouth size
HP:0011338,"""An abnormality of the outline, configuration, or contour of the mouth."" [DDD:jhurst]"
HP:0011339,"""An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin."" [HPO:probinson]"
HP:0011340,"""A subtle unilateral cleft of the upper lip, which may appear as a small indentation."" [DDD:jclayton-smith]"
HP:0011341,"""Increased width of the upper lip."" [DDD:jhurst]"
HP:0011342,"""A mild delay in the achievement of motor or mental milestones in the domains of development of a child."" [DDD:hvfirth]"
HP:0011343,"""A moderate delay in the achievement of motor or mental milestones in the domains of development of a child."" [DDD:hvfirth]"
HP:0011344,"""A severe delay in the achievement of motor or mental milestones in the domains of development of a child."" [DDD:hvfirth]"
HP:0011345,"""A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts."" [DDD:hvfirth]"
HP:0011346,"""A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts."" [DDD:hvfirth]"
HP:0011347,"""An abnormality involving the movement of the eye outwards."" [HPO:probinson]"
HP:0011348,"""Any structural abnormality of the abducens nerve."" [HPO:probinson]"
HP:0011350,"""A mild delay in the acquisition of the ability to understand the speech of others."" [DDD:hvfirth]"
HP:0011351,"""A moderate delay in the acquisition of the ability to understand the speech of others."" [DDD:hvfirth]"
HP:0011352,"""A severe delay in the acquisition of the ability to understand the speech of others."" [DDD:hvfirth]"
HP:0011353,"""Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries."" [HPO:probinson]"
HP:0011354,"""An abnormality of the skin that is not localized to any one particular region."" [DDD:cmoss]"
HP:0011355,"""A lesion of the skin that is located in a specific region rather than being generalized."" [DDD:cmoss]"
HP:0011356,"""An abnormality of the skin that is restricted to a particular body region."" [DDD:cmoss]"
HP:0011358,"""Reduced pigmentation of hair diffusely."" [DDD:cmoss]"
HP:0011359,"""Hair that lacks the lustre (shine or gleam) of normal hair."" [DDD:cmoss]"
HP:0011360,"""An abnormality of the distribution of hair growth that is acquired during the course of life."" [DDD:cmoss]"
HP:0011361,"""A congenital abnormality of the distribution of hair growth."" [DDD:cmoss]"
HP:0011362,"""An abnormal amount of hair."" [DDD:cmoss]"
HP:0011363,"""Hair whose growth rate deviates from the norm."" [DDD:cmoss]"
HP:0011364,"""Hypopigmented hair that appears white."" [DDD:cmoss]"
HP:0011365,"""Reduced pigmentation of hair in patches."" [DDD:cmoss]"
HP:0011367,"""Yellowish discoloration of the nails."" [DDD:cmoss]"
HP:0011368,"""Thickening of the epidermal layer of the skin."" [HPO:probinson]"
HP:0011369,"""Congenital deep dermal melanosis in the sacral area."" [DDD:cmoss]"
HP:0011370,"""Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections."" []"
HP:0011371,"""Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections."" []"
HP:0011372,"""Absence of the inner ear due to a developmental defect."" [DDD:dfitzpatrick]"
HP:0011373,"""Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema."" [HPO:probinson]"
HP:0011374,"""Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation."" [DDD:mbitner-glidicz, PMID:21849370]"
HP:0011375,"""Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect."" [HPO:dfitzpatrick]"
HP:0011376,"""A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals."" [DDD:mbitner-glidicz]"
HP:0011377,"""Complete absence of the vestibule of the inner ear."" [DDD:dfitzpatrick]"
HP:0011378,"""Underdevelopment of the vestibule of the inner ear."" [DDD:mbitner-glidicz]"
HP:0011379,"""Dilatation of the vestibule of the inner ear."" [DDD:mbitner-glidicz]"
HP:0011380,"""An abnormality of the morphology of the semicircular canal."" [DDD:dfitzpatrick]"
HP:0011381,"""Absence of the semicircular canal."" [DDD:dfitzpatrick]"
HP:0011382,"""Underdevelopment of the semicircular canal."" [DDD:dfitzpatrick]"
HP:0011383,"""Increased size of the semicircular canal."" [DDD:dfitzpatrick]"
HP:0011384,"""An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse."" [DDD:mbitner-glidicz]"
HP:0011385,"""Aplasia of the internal auditory canal."" [DDD:dfitzpatrick]"
HP:0011386,"""Reduction in diameter of the internal auditory canal."" [DDD:dfitzpatrick]"
HP:0011387,"""Increased size of the vestibular aqueduct."" [DDD:mbitner-glidicz]"
HP:0011388,"""Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular."" [DDD:dfitzpatrick]"
HP:0011389,"""An abnormality of the function of the inner ear."" [DDD:dfitzpatrick]"
HP:0011390,"""A structural anomaly of the internal part of the ear."" [HPO:probinson]"
HP:0011391,Morphological abnormality of the nerves of the inner ear
HP:0011392,Abnormality of the vestibular nerve
HP:0011393,"""Absence of the vestibular nerve"" [DDD:mbitner-glidicz]"
HP:0011394,"""Underdevelopment of the vestibular nerve."" [DDD:dfitzpatrick]"
HP:0011395,"""Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect."" [HPO:probinson]"
HP:0011396,Abnormality of the cochlear nerve
HP:0011397,"""An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus."" [HPO:probinson]"
HP:0011399,"""Wasting of the tibialis anterior muscle."" [HPO:probinson]"
HP:0011400,"""An abnormality of myelination of nerves in the central nervous system."" [DDD:fmuntoni]"
HP:0011401,"""Delayed myelination in the peripheral nervous system."" [HPO:probinson]"
HP:0011402,"""Demyelination of peripheral sensory nerves."" [HPO:probinson]"
HP:0011403,Abnormal umbilical cord blood vessel morphology
HP:0011404,"""A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth."" [HPO:probinson]"
HP:0011405,Childhood onset short-limb short stature
HP:0011406,"""A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy."" [HPO:probinson]"
HP:0011407,Proportionate tall stature
HP:0011408,"""Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age."" [DDD:hfirth]"
HP:0011409,"""Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix."" [PMID:28939208]"
HP:0011410,"""Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy)."" []"
HP:0011411,Forceps delivery
HP:0011412,"""Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately."" [DDD:hfirth]"
HP:0011413,"""Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex."" [PMID:15086043]"
HP:0011414,"""An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement."" [HPO:hfirth]"
HP:0011415,Calcified placenta
HP:0011416,Placental infarction
HP:0011417,"""Increased length of the umbilical cord."" [DDD:hfirth]"
HP:0011418,"""Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta."" []"
HP:0011419,"""Separation of the placenta from the uterus wall before delivery."" [DDD:hfirth]"
HP:0011420,"""The age group when the cessation of life happens."" [HPO:probinson]"
HP:0011421,"""Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years)."" [HPO:probinson]"
HP:0011422,"""An abnormality of chloride homeostasis or concentration in the body."" [HPO:probinson]"
HP:0011423,"""An abnormally increased chloride concentration in the blood."" [HPO:probinson]"
HP:0011424,"""An increased consentration of zinc in the blood."" [HPO:probinson]"
HP:0011425,"""An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders."" [PMID:16100637]"
HP:0011426,"""Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637)."" [DDD:hfirth, PMID:16100637, PMID:16809660]"
HP:0011427,"""The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637)."" [DDD:hfirth, PMID:16100637]"
HP:0011428,"""A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637)."" [HPO:probinson, PMID:16100637]"
HP:0011429,"""A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637)."" [HPO:probinson, PMID:16100637]"
HP:0011430,"""On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637)."" [HPO:probinson, PMID:16100637]"
HP:0011431,"""Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637)."" [HPO:probinson, PMID:16100637]"
HP:0011432,"""Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy."" [PMID:32039804]"
HP:0011433,"""An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age."" [DDD:hfirth, PMID:2447576]"
HP:0011434,"""An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age."" [DDD:hfirth, PMID:2447576]"
HP:0011435,"""An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age."" [DDD:hfirth, PMID:19038077]"
HP:0011436,"""An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy."" [DDD:hfirth, PMID:19038077]"
HP:0011437,"""A medical history of a fetus or child born to a mother with an autoimmune disease."" [DDD:hfirth]"
HP:0011438,"""A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy."" [DDD:hfirth]"
HP:0011439,"""Rhabdomyolysis induced by anesthesia."" [HPO:probinson]"
HP:0011440,"""Rhabdomyolysis induced by intake of alcohol."" [HPO:probinson]"
HP:0011441,"""An abnormality of the medulla oblongata, the lower half of the brainstem."" [HPO:probinson]"
HP:0011442,"""An anomaly of the control or production of movement in the central nervous system."" [HPO:probinson]"
HP:0011443,Abnormality of coordination
HP:0011444,"""A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus."" [HPO:probinson]"
HP:0011445,"""A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone."" [DDD:ssissodiya]"
HP:0011446,"""Cognitive, psychiatric or memory anomaly."" [DDD:ajackson]"
HP:0011447,"""Hyposegmented (hypolobulated) or bilobed neutrophil nuclei."" [DDD:probinson]"
HP:0011448,"""Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward."" [HPO:probinson]"
HP:0011449,"""Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes."" [HPO:probinson]"
HP:0011450,"""A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection."" []"
HP:0011451,"""Head circumference below 2 standard deviations below the mean for age and gender at birth."" [HPO:probinson]"
HP:0011452,"""An abnormality of the function of the middle ear."" [HPO:probinson]"
HP:0011453,"""An abnormality of the incus, an ossicle in the middle ear."" [DDD:dfitzpatrick]"
HP:0011454,"""An abnormality of the malleus, an ossicle in the middle ear."" [DDD:dfitzpatrick]"
HP:0011455,"""Aplasia of the malleus."" [DDD:dfitzpatrick]"
HP:0011456,"""Aplasia of the stapes."" [DDD:dfitzpatrick]"
HP:0011457,"""This term refers to the loss of eyelashes that were previously present."" [HPO:probinson]"
HP:0011458,"""A subjective manifestation of disease localized to the abdomen."" []"
HP:0011459,"""The presence of a carcinoma of the esophagus."" [DDD:hfirth, NCIT:C3513]"
HP:0011460,"""Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation)."" [DDD:whouwehand]"
HP:0011461,"""Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks)."" [DDD:whouwehand]"
HP:0011462,"""Onset of disease at the age of between 16 and 40 years."" [DDD:hfirth]"
HP:0011463,"""Onset of disease at the age of between 1 and 5 years."" [DDD:hfirth]"
HP:0011464,"""A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine."" [DDD:hfirth]"
HP:0011465,"""A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum."" [DDD:hfirth]"
HP:0011466,"""Absence or underdevelopment of the gallbladder."" [HPO:probinson]"
HP:0011467,"""A developmental defect in which the gallbladder fails to form."" [DDD:hfirth]"
HP:0011468,"""Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face."" [DDD:cwright]"
HP:0011469,"""Regurgitation of milk through the nose."" [DDD:ncarter]"
HP:0011470,"""Feeding problem necessitating nasogastric tube feeding."" [DDD:ncarter]"
HP:0011471,"""Feeding problem necessitating gastrostomy tube feeding."" [DDD:ncarter]"
HP:0011472,Abnormality of small intestinal villus morphology
HP:0011473,"""The enteric villi are atrophic or absent."" [HPO:probinson]"
HP:0011474,"""Sensorineural hearing impairment with childhood onset."" [DDD:dfitzpatrick]"
HP:0011475,"""Persistence of the stapedial artery, which normally regresses during embryonic life."" [DDD:mbitner-glidicz]"
HP:0011476,"""Complete loss of hearing related to a sensorineural defect."" [DDD:dfitzpatrick]"
HP:0011477,"""In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient."" [HPO:probinson, PMID:21505601]"
HP:0011478,"""Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination."" [DDD:ncarter]"
HP:0011479,"""An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid."" [HPO:probinson]"
HP:0011480,"""A developmental anomaly characterized by abnormal smallness of one eye."" [DDD:ncarter]"
HP:0011481,"""An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac."" [HPO:probinson]"
HP:0011482,"""Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye."" [HPO:probinson]"
HP:0011483,"""Adhesions between the iris and the cornea."" [DDD:ncarter]"
HP:0011484,"""Adhesions between the iris and the lens."" [DDD:ncarter]"
HP:0011485,"""Developmental abnormality in which the lens and cornea are not separated."" [DDD:ncarter]"
HP:0011486,"""An abnormal anteroposterior thickness of the cornea."" [DDD:gblack]"
HP:0011487,"""A increased anteroposterior thickness of the cornea."" [HPO:probinson]"
HP:0011488,"""Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea."" [DDD:gblack]"
HP:0011489,"""Abnormal migration of corneal endothelium."" [DDD:ncarter]"
HP:0011490,"""Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium."" [DDD:gblack]"
HP:0011491,"""A reduction in the number of corneal endothelial cells."" [DDD:ncarter]"
HP:0011492,"""An abnormality of the stroma of cornea, also known as the substantia propria of cornea."" [DDD:ncarter, HPO:probinson]"
HP:0011493,"""Reduced transparency of the central portion of the corneal stroma."" [DDD:ncarter]"
HP:0011494,"""Generalized reduced transparency of the stroma of the cornea."" [DDD:gblack]"
HP:0011495,"""Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea."" [DDD:gblack]"
HP:0011496,"""Ingrowth of new blood vessels into the cornea."" [DDD:ncarter, PMID:22898649]"
HP:0011497,"""New growth of vessels on the surface of the iris."" [DDD:ncarter]"
HP:0011499,"""Abnormal dilatation of the iris."" [DDD:ncarter]"
HP:0011500,"""Multiple pupils."" [DDD:ncarter]"
HP:0011501,"""A conical projection of the anterior surface of the lens, occurring as a developmental anomaly."" [DDD:gblack]"
HP:0011502,"""A conical projection of the posterior surface of the lens, occurring as a developmental anomaly."" [DDD:gblack]"
HP:0011503,"""Congenital absence of the fovea."" [HPO:probinson]"
HP:0011504,"""Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation."" [DDD:gblack]"
HP:0011505,"""Cystoid macular edema (CME) is any type of macular edema that involves cyst formation."" [DDD:ncarter]"
HP:0011506,"""Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye."" [DDD:ncarter]"
HP:0011507,"""Pale often indistinct lesions of the macula."" [DDD:gblack]"
HP:0011508,"""A macular hole is a small break in the macula, located in the center of the retina."" [DDD:ncarter]"
HP:0011509,"""Increased amount of pigmentation in the macula lutea."" [DDD:ncarter]"
HP:0011510,"""Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye."" [DDD:gblack]"
HP:0011511,"""Splitting of the retina in the macular region."" [DDD:gblack]"
HP:0011512,"""Increased pigmentation of the fundus"" [DDD:ncarter, ORCID:0000-0003-0986-4123]"
HP:0011513,"""A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance."" [HPO:probinson, PMID:20844673]"
HP:0011514,"""An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth."" [DDD:ncarter]"
HP:0011515,"""Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head."" [DDD:gblack]"
HP:0011516,"""A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult."" [DDD:gblack, PMID:12015282]"
HP:0011517,"""The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors."" [DDD:ncarter]"
HP:0011518,"""Individuals affected by dichromacy possess only two types of cones, instead of three."" [HPO:probinson]"
HP:0011519,"""Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones."" [HPO:probinson]"
HP:0011520,"""A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green."" [HPO:probinson]"
HP:0011521,"""Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green."" [DDD:gblack]"
HP:0011522,"""Blue and green cones only; no functional red cones."" [DDD:gblack]"
HP:0011523,"""An iris cyst is composed of a single cell layer of epithelium and is filled with fluid."" [DDD:gblack]"
HP:0011524,"""Malignant tumor of melanocytes affecting the iris."" [DDD:ncarter]"
HP:0011525,"""A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated."" [DDD:ncarter]"
HP:0011526,"""An abnormal shape of the lens."" [HPO:probinson]"
HP:0011527,"""Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging."" [DDD:gblack]"
HP:0011528,"""Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance."" [DDD:gblack]"
HP:0011529,"""Sharply demarcated hyperpigmentation which is congenital."" [DDD:gblack]"
HP:0011530,"""A small break in the retina."" [HPO:probinson]"
HP:0011531,"""Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity."" [HPO:probinson]"
HP:0011532,"""A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium."" [HPO:probinson]"
HP:0011533,"""The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous."" [DDD:ncarter, PMID:18179896]"
HP:0011534,"""Abnormality of the spatial relationship of the cardiac segments to other components of the heart."" []"
HP:0011535,"""Abnormality of the spatial relationship of the atria to other components of the heart."" [DDD:dbrown]"
HP:0011536,"""Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest."" [DDD:dbrown, PMID:3408620]"
HP:0011537,"""In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest."" [DDD:dbrown, PMID:3408620]"
HP:0011538,"""Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side."" [DDD:dbrown]"
HP:0011539,"""Common atrium without defining morphologic features."" [DDD:dbrown]"
HP:0011540,"""The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta."" [DDD:dbrown, PMID:21569592]"
HP:0011541,"""Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis."" [DDD:dbrown, HPO:probinson]"
HP:0011542,"""Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side."" [PMID:11789809]"
HP:0011543,Superior-inferior ventricles without criss-cross atrioventricular valves
HP:0011544,L-looping of the right ventricle
HP:0011545,"""A deviance in the normal connections between two cardiac segements."" [PMID:24876921]"
HP:0011546,"""An abnormality of the circulatory connection between atria and ventricles."" [DDD:dbrown]"
HP:0011547,"""A defect where there is no connection between the left atrium and left ventricle."" [PMID:7104116]"
HP:0011548,"""A defect where there is no connection between the right atrium and right ventricle."" [PMID:7104116]"
HP:0011549,Univentricular heart with absent left sided atrioventricular connection
HP:0011550,Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection
HP:0011551,Right sided atrium to left ventricle and absent left sided atrioventricular connection
HP:0011552,"""With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle)."" [DDD:dbrown, HPO:probinson]"
HP:0011553,"""Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart."" [DDD:dbrown, HPO:probinson, PMID:23804932]"
HP:0011554,"""The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve."" [DDD:dbrown, HPO:probinson]"
HP:0011555,"""The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual."" [DDD:dbrown, HPO:probinson]"
HP:0011556,"""The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic."" [DDD:dbrown, HPO:probinson]"
HP:0011557,"""The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle."" [DDD:dbrown, HPO:probinson]"
HP:0011558,Double inlet to single ventricle with common atrioventricular orifice
HP:0011559,Double inlet to single ventricle with two atrioventricular valves
HP:0011560,"""A congenital defect with failure to open of the mitral valve orifice."" [DDD:dbrown]"
HP:0011561,"""An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect."" [DDD:dbrown, HPO:probinson, PMID:7295418]"
HP:0011562,"""Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect."" [DDD:dbrown, HPO:probinson, PMID:7295418]"
HP:0011563,"""An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta."" [PMID:15227248, PMID:18805185, PMID:24750982]"
HP:0011564,"""Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle."" [DDD:dbrown, PMID:20404264]"
HP:0011565,"""Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections."" [DDD:dbrown, HPO:probinson]"
HP:0011566,"""A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue."" [DDD:dbrown, HPO:probinson, PMID:17948095]"
HP:0011567,"""An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting."" [DDD:dbrown, HPO:probinson, PMID:16172274]"
HP:0011568,"""The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue."" [DDD:dbrown, HPO:probinson, PMID:20851840]"
HP:0011569,"""Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect."" [DDD:dbrown, PMID:6829465]"
HP:0011570,"""Mitral stenosis with congenital onset."" [DDD:dbrown]"
HP:0011571,"""Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles."" [DDD:dbrown]"
HP:0011572,"""A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve."" [DDD:dbrown]"
HP:0011573,"""Congenital defect characterized by underdevelopment of the tricuspid valve."" [DDD:dbrown]"
HP:0011574,"""An atrioventricular valve that has failed to open (atretic)."" [DDD:dbrown]"
HP:0011575,"""A tricuspid valve that has failed to open."" [DDD:dbrown, PMID:7066117]"
HP:0011576,"""A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices."" [DDD:dbrown]"
HP:0011577,"""A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices."" [DDD:dbrown]"
HP:0011578,"""A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices."" [DDD:dbrown]"
HP:0011579,"""Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced)."" [DDD:dbrown, PMID:20837915]"
HP:0011580,"""Abnormally short chordae tendineae of the mitral valve."" [HPO:probinson]"
HP:0011581,"""A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle."" [HPO:probinson]"
HP:0011582,"""Displacement of the heart outside the thoracic cavity and into the abdomen."" [DDD:dbrown]"
HP:0011583,"""A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum."" [DDD:dbrown, HPO:probinson]"
HP:0011584,"""A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum."" [DDD:dbrown, HPO:probinson]"
HP:0011585,"""Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum."" [DDD:dbrown, HPO:probinson]"
HP:0011586,"""Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity."" [DDD:dbrown, HPO:probinson, PMID:19479716]"
HP:0011587,"""A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries."" [DDD:dbrown]"
HP:0011588,"""The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta."" [DDD:dbrown]"
HP:0011589,"""The left common carotid artery has a common origin with the innominate artery."" [DDD:dbrown, HPO:probinson, PMID:17138027]"
HP:0011590,"""A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor)."" [DDD:dbrown, HPO:probinson, PMID:15148283, PMID:15564538]"
HP:0011591,Left aortic arch with cervical origin of the right subclavian artery
HP:0011592,"""The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis."" [DDD:dbrown]"
HP:0011593,"""A patent ductus arteriosus or ductal ligament completes the ring."" [DDD:dbrown]"
HP:0011594,"""Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch."" [DDD:dbrown, PMID:12075866]"
HP:0011595,"""Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body."" [DDD:dbrown]"
HP:0011596,"""The ring may be completed by the ductal ligament."" [DDD:dbrown]"
HP:0011597,Right aortic arch with left descending aorta and left ductus arteriosus
HP:0011598,Right aortic arch with retroesophageal left subclavian artery
HP:0011599,"""Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane."" [DDD:dbrown, HPO:probinson]"
HP:0011600,"""Abnormal plane of direction of the heart from the base to the apex. Left sided is normal."" [DDD:dbrown]"
HP:0011601,"""Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal."" [DDD:dbrown]"
HP:0011602,"""Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal."" [DDD:dbrown]"
HP:0011603,"""Defect or defects of the morphogenesis of the aorta and pulmonary arteries."" []"
HP:0011604,"""A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt."" [DDD:dbrown, HPO:probinson]"
HP:0011605,"""A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum."" [PMID:21569592, PMID:27777298, PMID:32274202]"
HP:0011608,"""Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus."" [DDD:dbrown, HPO:probinson]"
HP:0011609,"""Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta."" [DDD:dbrown, HPO:probinson]"
HP:0011610,"""Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present."" [DDD:dbrown, HPO:probinson]"
HP:0011611,"""Non-continuity of the arch of aorta with an atretic point or absent segment."" [DDD:dbrown]"
HP:0011612,"""Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus."" [DDD:dbrown]"
HP:0011613,"""Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries."" [DDD:dbrown]"
HP:0011614,"""Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries."" [DDD:dbrown]"
HP:0011615,"""An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi."" [DDD:dbrown]"
HP:0011616,"""Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus."" [DDD:dbrown]"
HP:0011617,"""An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same."" [DDD:dbrown]"
HP:0011618,"""An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung."" [DDD:dbrown, HPO:probinson]"
HP:0011619,"""An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung."" [DDD:dbrown]"
HP:0011620,"""An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs."" [DDD:dbrown]"
HP:0011621,"""A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve."" [DDD:dbrown, PMID:19561249]"
HP:0011622,"""A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus."" [DDD:dbrown, PMID:17101870]"
HP:0011623,"""The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle."" [DDD:dbrown, PMID:17101870]"
HP:0011624,"""A muscular ventricular septal defect located at the apex of the heart."" [DDD:dbrown]"
HP:0011625,"""A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum."" [PMID:22718060]"
HP:0011626,"""Right pulmonary venous return to the inferior vena cava."" [DDD:dbrown, PMID:16638549]"
HP:0011627,"""Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle."" [PMID:17922908]"
HP:0011628,"""A developmental defect of the pericardium with congenital onset."" [DDD:dbrown]"
HP:0011629,"""No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy."" [DDD:dbrown]"
HP:0011630,"""No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart."" [DDD:dbrown]"
HP:0011631,"""No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy."" [DDD:dbrown]"
HP:0011632,"""A congenital anomaly with lack of part of the pericardium on the righthand side of the heart."" [DDD:dbrown]"
HP:0011633,"""A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart."" [DDD:dbrown]"
HP:0011634,"""A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart."" [DDD:dbrown]"
HP:0011635,"""Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart."" [DDD:dbrown]"
HP:0011636,"""Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries."" [DDD:dbrown]"
HP:0011637,"""A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta."" [DDD:dbrown, HPO:probinson]"
HP:0011638,"""Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve."" [DDD:dbrown, HPO:probinson, PMID:27358682]"
HP:0011639,"""Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve."" [DDD:dbrown, HPO:probinson]"
HP:0011640,"""The presence of a single coronary artery ostium from which both coronary arteries arise."" [DDD:dbrown, HPO:probinson, PMID:4547578]"
HP:0011641,"""A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel."" [DDD:dbrown, HPO:probinson, PMID:20513726]"
HP:0011642,"""An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium."" [DDD:dbrown, HPO:probinson]"
HP:0011643,"""An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus."" [DDD:dbrown, HPO:probinson, PMID:18806021]"
HP:0011644,"""A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus."" [DDD:dbrown, PMID:3138904]"
HP:0011645,"""Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve."" [UBERON_0003707]"
HP:0011646,"""Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch."" [DDD:dbrown, HPO:probinson]"
HP:0011647,"""Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch."" [DDD:dbrown]"
HP:0011648,"""Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater."" [DDD:dbrown]"
HP:0011649,"""Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation."" [DDD:dbrown]"
HP:0011650,"""The presence of both a left and a right ductus arteriosus."" [DDD:dbrown]"
HP:0011651,"""A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches."" [PMID:6193702]"
HP:0011652,"""A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches."" [PMID:6193702]"
HP:0011653,"""A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches."" [PMID:10431853]"
HP:0011654,"""A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches."" [PMID:10431853]"
HP:0011655,"""A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches."" [PMID:6193702]"
HP:0011656,"""A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches."" [PMID:6193702]"
HP:0011657,"""A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches."" [PMID:6193702]"
HP:0011658,"""A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches."" [PMID:20069085, PMID:6193702]"
HP:0011659,"""Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue."" [DDD:dbrown]"
HP:0011660,"""Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle."" [DDD:dbrown, PMID:2590592]"
HP:0011661,"""The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery."" [DDD:dbrown]"
HP:0011662,"""Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle."" [DDD:dbrown, HPO:probinson]"
HP:0011663,"""Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease."" [HPO:probinson, PMID:17916581]"
HP:0011664,"""Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates."" [PMID:17916581]"
HP:0011665,"""Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation."" [PMID:17916581]"
HP:0011666,"""Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium."" [DDD:dbrown, PMID:17578953, PMID:19808620, PMID:20532458]"
HP:0011667,Bilateral superior vena cava with bridging vein
HP:0011668,Bilateral superior vena cava with no bridging vein
HP:0011669,"""A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt."" [PMID:18847480]"
HP:0011670,"""A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence."" [PMID:18847480]"
HP:0011671,"""Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava."" [DDD:dbrown, PMID:10550884]"
HP:0011672,"""A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber."" [HPO:probinson, PMID:7477198]"
HP:0011673,"""Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium."" [DDD:dbrown]"
HP:0011674,"""A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone."" [HPO:probinson, PMID:17331235]"
HP:0011675,"""Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both."" [DDD:dbrown, PMID:19063792]"
HP:0011676,Tetralogy of Fallot with absent subarterial conus
HP:0011677,Tetralogy of Fallot with atrioventricular canal defect
HP:0011678,"""A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA)."" [HPO:probinson, PMID:22368654]"
HP:0011679,"""The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus."" [HPO:probinson]"
HP:0011680,Single ventricle of indeterminate morphology
HP:0011681,"""A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum."" [DDD:dbrown, PMID:10798413]"
HP:0011682,"""A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs."" [DDD:dbrown, PMID:10798413]"
HP:0011683,"""Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD."" [DDD:dbrown, PMID:10798413]"
HP:0011684,"""Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD."" [DDD:dbrown]"
HP:0011685,"""The superior vena cava passes below the aortic arch."" [DDD:dbrown]"
HP:0011686,"""An abnormal path of a coronary artery."" [DDD:dbrown]"
HP:0011687,"""A type of supraventricular tachycardia that originates in the atrioventricular node."" [DDD:dbrown, PMID:20733110]"
HP:0011688,"""Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism."" [PMID:22459483]"
HP:0011689,"""Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm."" [PMID:22459483]"
HP:0011690,"""An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction."" [PMID:15831598]"
HP:0011691,Supraventricular tachycardia with a concealed accessory pathway on the left free wall
HP:0011692,Supraventricular tachycardia with a concealed accessory pathway on the right free wall
HP:0011693,Supraventricular tachycardia with a concealed accessory pathway on the septum
HP:0011694,Supraventricular tachycardia with a manifest accessory pathway
HP:0011695,"""Hemorrhage into the parenchyma of the cerebellum."" [HPO:probinson]"
HP:0011696,Supraventricular tachycardia with a manifest accessory pathway on the left free wall
HP:0011697,Supraventricular tachycardia with a manifest accessory pathway on the right free wall
HP:0011698,Supraventricular tachycardia with a manifest accessory pathway on the septum
HP:0011699,Atrial reentry tachycardia
HP:0011700,"""Chronic supraventricular tachycardia predominantly seen in childhood."" [PMID:4019927]"
HP:0011701,"""Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic."" [ORPHA:3282]"
HP:0011702,"""An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart."" [HPO:probinson]"
HP:0011703,"""Heart rate of greater than 100 beats per minute."" []"
HP:0011704,"""An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress."" [PMID:17420362]"
HP:0011705,"""Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles."" [DDD:dbrown, HPO:probinson]"
HP:0011706,"""An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction."" [DDD:dbrown, HPO:probinson]"
HP:0011707,"""Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals)."" [DDD:dbrown, HPO:probinson]"
HP:0011708,"""A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval."" [DDD:dbrown, HPO:probinson]"
HP:0011709,"""Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance."" [HPO:probinson]"
HP:0011710,"""Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches."" [DDD:dbrown, HPO:probinson]"
HP:0011711,"""Conduction block in the anterior division of the left bundle branch of the bundle of His."" [DDD:dbrown]"
HP:0011712,"""A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG."" [DDD:dbrown, HPO:probinson]"
HP:0011713,"""A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG."" [DDD:dbrown, HPO:probinson]"
HP:0011714,"""Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve."" [PMID:18421506]"
HP:0011715,"""Abnormal conduction in all three divisions of the intraventricular conducting tissue."" [DDD:dbrown]"
HP:0011716,"""Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern."" [PMID:22826742]"
HP:0011717,"""Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove."" []"
HP:0011718,"""An abnormality of the pulmonary veins."" [HPO:probinson]"
HP:0011719,"""Type 1 total anomalous pulmonary venous connection."" [DDD:dbrown]"
HP:0011720,"""Type 2 total anomalous pulmonary venous connection."" [DDD:dbrown]"
HP:0011721,"""Type 3 total anomalous pulmonary venous connection."" [DDD:dbrown]"
HP:0011722,"""Type 4 total anomalous pulmonary venous connection."" [DDD:dbrown]"
HP:0011723,"""Defect or defects of the morphogenesis of the right heart identifiable at birth."" []"
HP:0011724,"""Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium."" [PMID:10859296, PMID:16322929]"
HP:0011725,Chaotic multifocal atrial tachycardia
HP:0011726,"""Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course."" [DDD:dbrown]"
HP:0011727,"""Weakness of the peroneal muscles."" [HPO:probinson]"
HP:0011728,"""Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint."" [HPO:probinson]"
HP:0011729,"""An abnormality in the range and ease of motion of joints across their normal range."" [HPO:probinson]"
HP:0011730,"""An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord."" [HPO:probinson]"
HP:0011731,"""An abnormality of the concentration of cortisol in the blood."" [HPO:probinson]"
HP:0011732,"""Any structural anomaly of the adrenal glands."" [HPO:probinson]"
HP:0011733,"""A functional abnormality of the adrenal glands."" [HPO:probinson]"
HP:0011734,"""A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected."" [DDD:spark]"
HP:0011735,"""Adrenal insufficiency secondary to a defect in ACTH production."" [DDD:spark]"
HP:0011736,"""A form of hyperaldosteronism caused by a defect within the adrenal gland."" [DDD:spark]"
HP:0011737,"""Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production."" [DDD:spark]"
HP:0011738,"""Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor."" [DDD:spark]"
HP:0011739,"""A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone."" [DDD:spark, HPO:probinson]"
HP:0011740,"""A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids."" [DDD:spark, HPO:probinson]"
HP:0011741,"""A form of hyperaldosteronism caused by abnormally increased renin levels."" [DDD:spark]"
HP:0011742,"""Abnormal anatomical location of the adrenal gland."" [DDD:spark]"
HP:0011743,"""Absent development of the adrenal gland."" [DDD:spark]"
HP:0011744,"""Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol."" [HPO:probinson]"
HP:0011745,"""An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones."" [DDD:spark]"
HP:0011746,"""An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones."" [DDD:spark]"
HP:0011747,"""An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland."" [DDD:spark]"
HP:0011748,"""A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol."" [DDD:spark]"
HP:0011749,"""Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex."" [DDD:spark]"
HP:0011750,"""A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland."" [DDD:spark]"
HP:0011751,"""An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis."" [DDD:spark, HPO:probinson]"
HP:0011752,"""The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis."" [DDD:spark]"
HP:0011753,"""Abnormal development of the neurohypophysis during embryonic growth and development."" [DDD:spark]"
HP:0011754,"""A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern."" [DDD:spark, PMID:17618441, PMID:19109577]"
HP:0011755,"""An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis."" [DDD:spark, HPO:probinson]"
HP:0011756,"""Absence of the neurohypophysis owing to a developmental defect."" [DDD:spark]"
HP:0011757,"""Underdevelopment of the neurohypophysis."" [DDD:spark]"
HP:0011758,Pituitary acidophilic stem cell adenoma
HP:0011759,"""A type of pituitary adenoma that produces gonadotropins."" [DDD:spark]"
HP:0011760,"""A type of pituitary adenoma that produces growth hormone."" [DDD:spark]"
HP:0011761,"""A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess."" [DDD:spark]"
HP:0011762,"""A type of pituitary adenoma that produces thyroid stimulating hormone (TSH)."" [DDD:spark]"
HP:0011763,"""A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS."" [DDD:spark, NCIT:C4536, PMID:15741248]"
HP:0011764,"""A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular."" [DDD:spark, PMID:21886889]"
HP:0011766,"""A structural abnormality of the parathyroid gland."" [DDD:spark, HPO:probinson]"
HP:0011767,"""A functional abnormality of the parathyroid gland."" [DDD:spark, HPO:probinson]"
HP:0011768,"""Abnormal embryonic development of the parathyroid gland."" [DDD:spark]"
HP:0011769,"""An abnormal anatomical location of the parathyroid gland."" [DDD:spark]"
HP:0011770,"""A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism."" [DDD:spark]"
HP:0011771,"""A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity."" [DDD:spark, PMID:19328421]"
HP:0011772,"""A structural abnormality of the thyroid gland."" [DDD:spark]"
HP:0011773,"""Enlargement of the thyroid gland related to a singular nodule in the thyroid gland."" [DDD:spark]"
HP:0011774,Thyroid follicular adenoma
HP:0011775,Thyroid macrofollicular adenoma
HP:0011776,Thyroid microfollicular adenoma
HP:0011777,Thyroid papillary adenoma
HP:0011778,Thyroid atypical adenoma
HP:0011779,Anaplastic thyroid carcinoma
HP:0011780,"""Absence of a lobe of the thyroid gland related to a failure of its embryologic development."" [DDD:spark]"
HP:0011781,"""An abnormal growth of parafollicular (C-cells) cells."" [DDD:spark, HPO:probinson]"
HP:0011782,Thyroid crisis
HP:0011783,Thyrotoxicosis from ectopic thyroid tissue
HP:0011784,Thyrotoxicosis with diffuse goiter
HP:0011785,Thyrotoxicosis with toxic multinodular goiter
HP:0011786,Thyrotoxicosis with toxic single thyroid nodule
HP:0011787,"""A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects."" [DDD:spark, PMID:18415684]"
HP:0011788,"""An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation."" [HPO:probinson]"
HP:0011789,"""Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH)."" [PMID:28648507]"
HP:0011790,"""Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect."" [DDD:spark]"
HP:0011791,"""Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect."" [DDD:spark]"
HP:0011792,"""Neoplasm categorized according to type of histological abnormality."" [DDD:rscott]"
HP:0011793,"""Neoplasm categorized according to the anatomical site of origin of the neoplasm."" [DDD:rscott]"
HP:0011794,"""The presence of an embryonal neoplasm of the kidney that primarily affects children."" [DDD:rscott]"
HP:0011795,"""Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it)."" [DDD:rscott]"
HP:0011796,"""Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar)."" [DDD:rscott]"
HP:0011797,"""A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli."" [DDD:rscott, PMID:12429790]"
HP:0011798,"""A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm."" [DDD:rscott]"
HP:0011799,Abnormality of facial soft tissue
HP:0011800,"""Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle."" [DDD:jclayton-smith, PMID:19125436]"
HP:0011801,"""Increased size of the parotid gland."" [DDD:jclayton-smith]"
HP:0011802,"""A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue."" [HPO:probinson, PMID:17667541]"
HP:0011803,"""Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip."" [PMID:19152422]"
HP:0011804,"""A functional abnormality of a skeletal muscle."" [HPO:probinson]"
HP:0011805,"""A structural abnormality of a skeletal muscle."" [HPO:probinson]"
HP:0011807,"""Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy."" [HPO:probinson]"
HP:0011808,"""Decreased intensity of the patellar reflex (also known as the knee jerk reflex)."" [HPO:probinson]"
HP:0011809,"""A type of myotonia that worsens with repeated muscle contractions."" [HPO:probinson, PMID:7678441]"
HP:0011810,"""A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart."" [HPO:probinson]"
HP:0011811,"""A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip."" [HPO:probinson]"
HP:0011812,"""Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination)."" [HPO:probinson]"
HP:0011813,"""Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient."" [HPO:probinson, PMID:9531959]"
HP:0011814,"""An increased level of hypoxanthine in the urine."" [HPO:probinson]"
HP:0011815,"""A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect."" [HPO:probinson, PMID:24931720]"
HP:0011816,"""An encephalocele located between bregma and lambda."" [DDD:awilkie, PMID:2773494]"
HP:0011817,"""Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares."" [HPO:probinson, PMID:4966739]"
HP:0011818,Nasofrontal encephalocele
HP:0011819,"""A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue."" [HPO:probinson]"
HP:0011820,"""Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike."" [DDD:jhurst]"
HP:0011821,"""An abnormality of one or more of the set of bones that make up the facial skeleton."" [DDD:awilkie]"
HP:0011822,"""Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue."" [PMID:19125436]"
HP:0011823,"""Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest."" [PMID:19125436]"
HP:0011824,"""H-shaped crease in the fat pad of the chin."" [PMID:19125436]"
HP:0011825,"""Prominence of a triangular soft tissue area of the philtrum with the apex to the columella."" [PMID:19152422]"
HP:0011826,"""Narrow ridge in the midline of the philtral groove."" [PMID:19152422]"
HP:0011827,"""Absence of the usual parallel position of philtral ridges."" [PMID:19152422]"
HP:0011828,"""Pit in the midline of the philtral groove."" [PMID:19152422]"
HP:0011829,"""Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum."" [PMID:19152422]"
HP:0011830,"""Abnormality of the oral mucosa."" [HPO:probinson]"
HP:0011831,"""Nasal tip positioned to one side of the midline."" [PMID:19152422]"
HP:0011832,"""Decrease in width of the nasal tip."" [PMID:19152422]"
HP:0011833,"""Positioning of the nasal tip inferior to the nasal base."" [PMID:19152422]"
HP:0011834,"""A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis."" [HPO:probinson]"
HP:0011835,"""Congenital absence of the scaphoid.."" [DDD:jcampbell]"
HP:0011836,"""Delayed maturation and calcification of the talus."" [HPO:probinson]"
HP:0011837,"""Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means."" [HPO:probinson]"
HP:0011838,"""Localized thickening and tightness of the skin of the fingers or toes."" [HPO:probinson]"
HP:0011839,"""A deviation from the normal count of T cells."" [HPO:probinson]"
HP:0011840,"""A functional anomaly of T cells."" [HPO:probinson]"
HP:0011841,"""A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance."" [HPO:probinson]"
HP:0011842,"""An abnormality of the form, structure, or size of the skeletal system."" [HPO:probinson]"
HP:0011843,"""An abnormality of the function of the skeletal system."" [HPO:probinson]"
HP:0011844,"""An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles."" [HPO:probinson]"
HP:0011845,"""Short (hypoplastic) second metatarsal bone."" [HPO:probinson]"
HP:0011846,"""A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue."" [HPO:probinson]"
HP:0011847,"""A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts."" [HPO:probinson]"
HP:0011848,"""A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity."" []"
HP:0011849,"""Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance."" [HPO:probinson, PMID:18157903]"
HP:0011850,"""Inflammation of the parotid gland."" [HPO:probinson]"
HP:0011851,"""Accumulation of blood within the pericardial sac."" [HPO:probinson, PMID:10882282]"
HP:0011852,"""Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct."" [HPO:probinson]"
HP:0011853,"""Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac."" [HPO:probinson]"
HP:0011854,"""Accumulation of blood in the peritoneal cavity owing to internal hemorrhage."" [HPO:probinson]"
HP:0011855,"""Abnormal accumulation of fluid leading to swelling of the pharynx."" [HPO:probinson]"
HP:0011856,"""An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month."" [HPO:probinson]"
HP:0011857,"""A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location."" [HPO:probinson]"
HP:0011858,"""Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa."" [HPO:probinson]"
HP:0011859,"""A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium."" [HPO:probinson]"
HP:0011860,"""The presence of spots or rounded patches of abnormally increased density of metaphyseal bone."" [HPO:probinson]"
HP:0011861,"""Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes."" [HPO:probinson]"
HP:0011862,"""Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity."" [HPO:probinson, MP:0011642]"
HP:0011863,"""Any anomaly in the formation of the bony substance of the sternum."" [HPO:probinson]"
HP:0011864,"""An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate."" [HPO:probinson]"
HP:0011867,"""An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally."" [HPO:probinson]"
HP:0011868,"""Pain in the lower back and hip radiating in the distribution of the sciatic nerve."" [HPO:probinson, PMID:17872935]"
HP:0011869,"""Any anomaly in the function of thrombocytes."" [HPO:probinson]"
HP:0011870,"""Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid."" [DDD:wouwehand]"
HP:0011871,"""Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin."" [DDD:wouwehand]"
HP:0011872,"""Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics)."" [DDD:wouwehand]"
HP:0011873,"""Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood."" [DDD:kfreson]"
HP:0011874,"""Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin."" [HPO:probinson, PMID:16928996]"
HP:0011875,"""An anomaly in platelet form, ultrastructure, or intracellular organelles."" [DDD:kfreson]"
HP:0011876,"""Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers."" [HPO:probinson]"
HP:0011877,"""Average platelet volume above the upper limit of the normal reference interval."" [DDD:wouwehand]"
HP:0011878,"""Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry."" [DDD:wouwehand]"
HP:0011879,"""Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V."" [DDD:wouwehand, PMID:10605725]"
HP:0011880,"""An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed."" [HPO:probinson]"
HP:0011881,"""Decreased cell membrane concentration of glycoprotein VI."" [DDD:wouwehand]"
HP:0011882,"""Decreased cell membrane concentration of P2Y12 receptor."" [DDD:wouwehand, PMID:14755328]"
HP:0011883,"""An anomaly of alpha or dense granules or platelet lysosomes."" [DDD:wouwehand, PMID:18041654]"
HP:0011884,"""Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth."" [DDD:akelly]"
HP:0011885,"""Bleeding from vessels of the various tissues of the eye."" [DDD:akelly]"
HP:0011886,"""Bleeding in the anterior chamber of the eye."" [HPO:probinson]"
HP:0011887,"""Hemorrhage from the vessels of the choroid."" [HPO:probinson]"
HP:0011888,"""Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4)."" [DDD:akelly]"
HP:0011889,"""Significant bleeding or hemorrhage without significant precipitating factor."" [DDD:kfreson]"
HP:0011890,"""Prolonged or protracted bleeding following an invasive procedure or intervention."" [DDD:akelly]"
HP:0011891,"""Significant maternal haemorrhage/blood loss following deilvery of a child."" [DDD:akelly]"
HP:0011892,"""A reduced concentration of vitamin K."" []"
HP:0011893,"""Number of leukocytes per volume of blood beyond normal limits."" [HPO:probinson]"
HP:0011894,"""Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists."" [DDD:wouwehand]"
HP:0011895,"""A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days."" [DDD:akelly]"
HP:0011896,"""Bleeding beneath the mucous membrane that lines the inner surface of the eyelid."" [DDD:akelly]"
HP:0011897,"""Increased number of neutrophils circulating in blood."" [DDD:akelly]"
HP:0011898,"""An abnormality of the level of activity of circulating fibrinogen."" [DDD:akelly]"
HP:0011899,"""Increased concentration of fibrinogen in the blood."" [DDD:akelly]"
HP:0011900,"""Decreased concentration of fibrinogen in the blood."" [HPO:probinson]"
HP:0011901,"""Qualitatively abnormal fibrinogen."" [DDD:akelly]"
HP:0011902,"""Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes."" [HPO:probinson]"
HP:0011903,"""Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia."" [HPO:probinson, PMID:21345100]"
HP:0011904,"""Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent."" [HPO:probinson]"
HP:0011905,"""Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia."" [HPO:probinson]"
HP:0011906,"""A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia."" [HPO:probinson, PMID:1060068]"
HP:0011907,"""A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia."" [HPO:probinson]"
HP:0011908,"""Missing radius bone on one side only associated with congenital failure of development."" [HPO:probinson]"
HP:0011909,"""Abnormally flat shape of the heads of the metacarpal bones."" [HPO:probinson]"
HP:0011910,"""Abnormal reduction in length affecting all phalanges."" [HPO:probinson]"
HP:0011911,"""An anomaly of a metacarpophalangeal joint."" [HPO:probinson]"
HP:0011912,"""An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus."" [HPO:probinson]"
HP:0011913,"""Excessive, increased hair growth located in the lumbar region."" [HPO:probinson]"
HP:0011914,"""Excessive, increased hair growth located in the thoracic region."" [HPO:probinson]"
HP:0011915,"""Abnormal calcification in the cardiovascular system."" [HPO:probinson]"
HP:0011916,"""Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes."" [HPO:probinson]"
HP:0011917,"""Underdevelopment (hypoplasia) of the fifth toe."" [HPO:probinson]"
HP:0011918,"""Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe)."" [HPO:probinson]"
HP:0011919,"""Accumulation of pus in the pleural cavity."" [HPO:probinson]"
HP:0011920,"""A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH."" [DDD:tkuijpers, HPO:probinson, PMID:16623208]"
HP:0011921,"""A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH."" [DDD:tkuijpers, HPO:probinson, PMID:16623208]"
HP:0011922,"""An increased or decreased activity of the mitochondrial respiratory chain."" [HPO:probinson]"
HP:0011923,"""A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria."" [HPO:probinson]"
HP:0011924,"""A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria."" [HPO:probinson]"
HP:0011925,"""A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain."" [HPO:probinson]"
HP:0011926,"""Proximal mislocalization of the big toe from its normal position."" [HPO:probinson]"
HP:0011927,"""One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened."" [HPO:probinson]"
HP:0011928,"""Developmental hypoplasia (shortening) of proximal phalanx of toe."" [HPO:probinson]"
HP:0011929,"""Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger."" [HPO:probinson]"
HP:0011930,Hyperextensible skin of chest
HP:0011931,"""An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum."" [HPO:probinson]"
HP:0011932,"""An anomaly of the superior cerebellar peduncle."" [HPO:probinson]"
HP:0011933,"""Increased length of the superior cerebellar peduncle."" [HPO:probinson]"
HP:0011934,"""Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery ."" [HPO:probinson]"
HP:0011935,"""Decreased concentration of urate in the urine."" [HPO:probinson]"
HP:0011936,"""A decreased concentration of total carnitine in the blood."" [HPO:probinson]"
HP:0011937,"""Underdeveloped nails of the fifth toes."" [HPO:probinson]"
HP:0011939,"""A soft tissue continuity in the A/P axis between fingers 3 and 4."" [HPO:probinson]"
HP:0011940,"""An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front)."" [HPO:probinson]"
HP:0011941,"""An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front)."" [HPO:probinson]"
HP:0011942,"""Increased concentration of SO3(2-), i.e., sulfite, in the urine."" [HPO:probinson]"
HP:0011943,"""Increased concentration of thiosulfate(2-) in the urine."" [HPO:probinson]"
HP:0011944,"""A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries."" [HPO:probinson, PMID:9366584]"
HP:0011945,"""Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss."" [DDD:tkuijpers, HPO:probinson, PMID:20858818]"
HP:0011946,"""Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways."" [HPO:probinson]"
HP:0011947,"""An infection of the upper or lower respiratory tract."" [HPO:probinson]"
HP:0011948,"""A history of repeated acute infections of the upper or lower respiratory tract."" [DDD:tkuijpers]"
HP:0011949,"""Acute inflammation of the lung due to an infection."" [DDD:tkuijpers]"
HP:0011950,"""Inflammation of the bronchioles."" [DDD:tkuijpers]"
HP:0011951,"""Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract."" [HPO:probinson]"
HP:0011952,"""An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract."" [HPO:probinson]"
HP:0011953,"""Lung parenchymal involvement with lymphoma."" [DDD:tkuijpers]"
HP:0011954,"""Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis."" [PMID:21472097]"
HP:0011955,"""The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes."" [HPO:probinson]"
HP:0011956,"""A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine."" [HPO:probinson, PMID:21481240]"
HP:0011957,"""An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major."" [HPO:probinson]"
HP:0011958,"""A small hole through the whole thickness of the retina."" [HPO:probinson]"
HP:0011959,"""Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest."" [HPO:probinson]"
HP:0011960,"""Focal proliferation of glial cells in the substantia nigra."" [HPO:probinson]"
HP:0011961,"""Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy."" [HPO:probinson, PMID:20514278]"
HP:0011962,"""Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy."" [HPO:probinson, PMID:20514278]"
HP:0011963,"""Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels."" [HPO:probinson, PMID:20514278]"
HP:0011964,"""History of repeated intermittent involuntary muscle contractions that were painful."" [HPO:probinson]"
HP:0011965,"""Any deviation from the normal concentration of citrulline in the blood circulation."" [HPO:probinson]"
HP:0011966,"""An increased concentration of citrulline in the blood."" [HPO:probinson]"
HP:0011967,"""A reduced concentration of copper in the blood."" [HPO:probinson]"
HP:0011968,"""Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it."" [ISCA:eriggs]"
HP:0011969,"""An elevated concentration of luteinizing hormone in the blood."" [HPO:probinson]"
HP:0011970,"""Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system."" [HPO:probinson, PMID:21519520]"
HP:0011971,"""An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)."" [HPO:probinson]"
HP:0011972,"""Abnormally low glucose concentration in the cerebrospinal fluid."" [HPO:probinson]"
HP:0011973,"""Repeated episodes of sudden-onset and transient lethargy."" [HPO:probinson]"
HP:0011974,"""Replacement of bone marrow by fibrous tissue."" [HPO:probinson]"
HP:0011975,"""Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics."" [HPO:probinson, PMID:2669624]"
HP:0011976,"""An increased concentration of catecholamine in the urine."" [HPO:probinson]"
HP:0011977,"""An increased concentration of homovanillic acid in the urine."" [HPO:probinson, PMID:27830764]"
HP:0011978,"""An increased concentration of vanillylmandelic acid in the urine."" [HPO:probinson]"
HP:0011979,"""An increased concentration of dopamine in the urine."" [HPO:probinson]"
HP:0011980,"""Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color."" [HPO:probinson, PMID:12950109, PMID:16844493]"
HP:0011981,"""Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration."" [HPO:probinson, PMID:12950109]"
HP:0011982,"""A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates."" [HPO:probinson, PMID:12950109]"
HP:0011983,"""A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones."" [HPO:probinson, PMID:12950109]"
HP:0011984,"""Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia."" [HPO:probinson]"
HP:0011985,"""Clay colored stools lacking bile pigment."" [HPO:probinson]"
HP:0011986,"""Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist."" [HPO:probinson]"
HP:0011987,"""Formation of abnormal bony tissue within muscle tissue."" [HPO:probinson]"
HP:0011988,"""Formation of abnormal bony tissue within tendon tissue."" [HPO:probinson]"
HP:0011989,"""Formation of abnormal bony tissue within ligament tissue."" [HPO:probinson]"
HP:0011990,"""A functional abnormality of neutrophils."" [HPO:probinson]"
HP:0011991,"""A deviation from the normal range of neutrophil cell counts in the circulation."" [HPO:probinson]"
HP:0011992,"""An abnormal form or size of neutrophils."" [HPO:probinson]"
HP:0011993,"""A reduction in the ability of neutrophils to kill bacteria."" [HPO:probinson]"
HP:0011994,"""An abnormality of the interatrial septum."" [HPO:probinson]"
HP:0011995,"""A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography."" [HPO:probinson, PMID:7758185]"
HP:0011996,"""Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex."" [HPO:probinson]"
HP:0011997,"""Abnormally increased level of blood lactate following a meal."" [HPO:probinson]"
HP:0011998,"""An increased concentration of glucose in the blood following a meal."" [HPO:probinson]"
HP:0011999,"""A persecutory delusion of supposed hostility of others."" [HPO:probinson]"
HP:0012000,"""EEG with generalized sharp transient waves of a duration less than 80 msec."" [HPO:jalbers]"
HP:0012001,"""EEG with repetitive generalized sharp transient waves of a duration less than 80 msec."" [HPO:jalbers]"
HP:0012002,"""Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context."" [HPO:probinson]"
HP:0012003,"""Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context."" [HPO:probinson]"
HP:0012004,"""A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation."" [HPO:probinson, PMID:28276060]"
HP:0012005,"""A subjective feeling that an experience which is occurring for the first time has been experienced before."" [HPO:probinson]"
HP:0012006,"""A subjective feeling that an experience which has occurred before is being experienced for the first time."" [HPO:probinson]"
HP:0012007,"""A focal cognitive seizure characterized by hallucination as the initial semiological manifestation."" [HPO:probinson, PMID:28276060]"
HP:0012008,"""A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation."" [HPO:probinson, PMID:28276060]"
HP:0012009,"""EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."" [HPO:jalbers]"
HP:0012010,"""EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."" [HPO:jalbers]"
HP:0012011,"""EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."" [HPO:jalbers]"
HP:0012012,"""EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."" [HPO:jalbers]"
HP:0012013,"""EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."" [HPO:jalbers]"
HP:0012014,"""EEG with focal sharp transient waves of a duration less than 80 msec in the central region."" [HPO:jalbers]"
HP:0012015,"""EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region."" [HPO:jalbers]"
HP:0012016,"""EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region."" [HPO:jalbers]"
HP:0012017,"""EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region."" [HPO:jalbers]"
HP:0012018,"""EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region."" [HPO:jalbers]"
HP:0012019,"""Complete dislocation of the lens of the eye."" [HPO:probinson]"
HP:0012020,"""Aorta descends on right instead of on the left."" [HPO:probinson]"
HP:0012021,"""Persistence of blood flow through the ductus venosus for longer than the normal time after birth."" [HPO:probinson, PMID:16449256]"
HP:0012022,"""A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver)."" [HPO:probinson]"
HP:0012023,"""Elevated concentration of galactose in the urine."" [HPO:probinson]"
HP:0012024,"""Elevated concentration of galactose in the blood."" [HPO:probinson]"
HP:0012025,"""Deviation from the normal concentration of ornithine in the blood circulation."" [HPO:probinson]"
HP:0012026,"""Increased concentration of ornithine in the blood."" [HPO:probinson]"
HP:0012027,"""An abnormal accumulation of fluid and swelling in the tissues of the larynx."" [HPO:probinson]"
HP:0012028,"""A benign tumor of the liver of presumably epithelial origin."" [HPO:probinson]"
HP:0012029,"""An abnormal concentration of a hormone in the urine."" [HPO:probinson]"
HP:0012030,"""Abnormally increased concentration of cortisol in the urine."" [HPO:probinson]"
HP:0012031,Lipomatous tumor
HP:0012032,"""Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous."" [MPATH:417]"
HP:0012033,"""Presence of a lipoma in the region of the sacrum."" [HPO:probinson]"
HP:0012034,"""Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway."" [MPATH:418]"
HP:0012035,"""Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities)."" [HPO:probinson, PMID:20631281]"
HP:0012036,"""Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head."" [HPO:probinson]"
HP:0012037,"""Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor."" [HPO:probinson]"
HP:0012038,"""Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible."" [HPO:probinson, PMID:10611102, PMID:11222329]"
HP:0012039,"""Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea."" [HPO:probinson]"
HP:0012040,"""Abnormal accumulation of fluid and swelling of the stroma of cornea."" [HPO:probinson]"
HP:0012041,Decreased fertility in males
HP:0012042,"""A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction."" [PMID:12743549]"
HP:0012043,"""Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction."" [HPO:probinson]"
HP:0012044,"""Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements."" [HPO:probinson]"
HP:0012045,"""Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions."" [PMID:7952338]"
HP:0012046,"""Inability to elicit tendon reflexes in the upper limbs."" [HPO:probinson]"
HP:0012047,"""A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness."" [HPO:probinson]"
HP:0012048,"""A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech."" [HPO:probinson]"
HP:0012049,"""A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech."" [HPO:probinson]"
HP:0012050,"""An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space."" [HPO:probinson]"
HP:0012051,"""Hypoglycermia following a meal (or more generally, after intake of glucose)."" [HPO:probinson]"
HP:0012052,"""A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3."" [HPO:probinson]"
HP:0012053,"""A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3."" [HPO:probinson]"
HP:0012054,"""Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)."" [HPO:probinson, PMID:22557869]"
HP:0012055,"""Malignant tumor of melanocytes of the ciliary body."" [HPO:probinson]"
HP:0012056,"""The presence of a melanoma of the skin."" [HPO:probinson]"
HP:0012057,"""A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown."" [HPO:probinson]"
HP:0012058,"""A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color."" [HPO:probinson]"
HP:0012059,"""A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging."" [HPO:7734995, HPO:probinson]"
HP:0012060,"""A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed."" [HPO:probinson]"
HP:0012061,"""Excretion of oligosaccharides conjugated to sialic acid in the urine."" [HPO:probinson]"
HP:0012062,"""A fluid filled cavity that develops with a bone."" [HPO:probinson]"
HP:0012063,"""Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging."" [HPO:probinson, PMID:22474093, PMID:7863874]"
HP:0012064,"""A benign fluid filled simple cyst of bone filled with serous fluid."" [HPO:probinson]"
HP:0012065,"""Presence of multiple cystic changes in multiple areas or multiple bones."" [HPO:probinson]"
HP:0012066,"""Increased concentration of disaccharide in the urine."" [HPO:probinson]"
HP:0012067,"""Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues."" [HPO:probinson]"
HP:0012068,"""Excretion of excess amounts of aspartylglucosamine in the urine."" [HPO:probinson]"
HP:0012069,"""An increased concentration of keratan sulfate in the urine."" [HPO:probinson]"
HP:0012070,"""An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine."" [HPO:probinson]"
HP:0012071,"""Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine."" [HPO:probinson, PMID:18281923, PMID:23258903, PMID:6348429]"
HP:0012072,"""Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration."" [HPO:probinson]"
HP:0012073,"""An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution."" [HPO:probinson, PMID:10870848]"
HP:0012074,"""An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation."" [HPO:probinson]"
HP:0012075,"""An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder."" [HPO:probinson]"
HP:0012076,"""A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions."" [HPO:probinson]"
HP:0012077,"""A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention."" [ICD-10:F60.4]"
HP:0012078,"""Blockade of impulses at a focal site along the course of a motor axon."" [HPO:probinson]"
HP:0012079,"""Any anomaly of the conduction of motor nerve impulses in the central nervous system."" [HPO:probinson, PMID:3572430]"
HP:0012080,"""Atrophy of the cerebellum affecting primarily the granular cell layer."" [HPO:probinson]"
HP:0012081,"""An abnormally increased size of the cerebellum compared to other brain structures."" [HPO:probinson]"
HP:0012082,"""Atrophy of the cerebellum affecting primarily the Purkinje cell layer."" [HPO:probinson]"
HP:0012083,"""Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain."" [HPO:probinson]"
HP:0012084,"""Any abnormality of the size of the skeletal muscle cell."" [HPO:probinson]"
HP:0012085,"""The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase."" [HPO:probinson, PMID:25760357]"
HP:0012086,"""An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color."" [HPO:probinson]"
HP:0012087,"""An anomaly in the surface contour of mitochondria."" [HPO:probinson, MP:0011633]"
HP:0012088,"""A deviation from the normal odor of the urine."" [HPO:probinson]"
HP:0012089,"""Arterial inflammation."" [HPO:probinson]"
HP:0012090,Abnormal pancreas morphology
HP:0012091,"""An anomaly of the function of the pancreas."" [HPO:probinson]"
HP:0012092,"""A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes."" [HPO:probinson]"
HP:0012093,"""A function abnormality of the endocrine pancreas."" [HPO:probinson]"
HP:0012094,"""A deviation from the normal size of the pancreas."" [HPO:probinson]"
HP:0012095,"""Dislocation of many joints."" [HPO:probinson]"
HP:0012096,"""A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development."" [HPO:probinson, PMID:16714456]"
HP:0012097,"""A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands."" [HPO:probinson, PMID:16714456]"
HP:0012098,"""An abnormal accumulation of fluid beneath the skin on the back of the feet."" [HPO:probinson]"
HP:0012099,"""An abnormal catecholamine concentration in the blood."" [HPO:probinson]"
HP:0012100,"""An abnormal concentration of creatinine in the blood."" [HPO:probinson]"
HP:0012101,"""An abnormally reduced amount of creatinine in the blood."" [HPO:probinson]"
HP:0012102,"""A deviation from the normal number of mitochondria per cell."" [HPO:probinson]"
HP:0012103,"""An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration."" [HPO:probinson]"
HP:0012104,"""Atrophy of the parietal cortex."" [HPO:probinson]"
HP:0012105,"""Atrophy of the occipital cortex."" [HPO:probinson]"
HP:0012106,"""Disproportionate shortening of the proximal segment of the leg (i.e. the femur)."" [HPO:probinson]"
HP:0012107,"""Increased width of the cross sectional diameter of the fibula."" [HPO:probinson, MP:0008159]"
HP:0012108,"""A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,"" [HPO:probinson, PMID:11815354]"
HP:0012109,"""A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact)."" [HPO:probinson, PMID:11815354, UManchester:psergouniotis]"
HP:0012110,"""Underdevelopment of the pons."" [HPO:probinson]"
HP:0012111,"""An abnormality of the concentration of a glucocorticoid in the blood."" [HPO:probinson]"
HP:0012112,"""An abnormality of the concentration of corticosterone in the blood."" [HPO:probinson]"
HP:0012113,"""A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells."" [HPO:probinson]"
HP:0012114,"""A carcinoma of the endometrium, the mucous lining of the uterus."" [HPO:probinson, NCIT:C7558]"
HP:0012115,"""Inflammation of the liver."" [HPO:probinson]"
HP:0012116,"""Deviation from normal concentration of albumin in the blood."" [HPO:probinson]"
HP:0012117,"""Elevation in the concentration of albumin in the blood."" [HPO:probinson]"
HP:0012118,"""A carcinoma of the larynx."" [HPO:probinson, NCIT:C4855]"
HP:0012119,"""Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues."" [HPO:probinson]"
HP:0012120,"""Increased concentration of methylmalonic acid in the urine."" [HPO:probinson]"
HP:0012121,"""Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid."" [HPO:probinson]"
HP:0012122,"""Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber."" [HPO:probinson]"
HP:0012123,"""Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid."" [HPO:probinson]"
HP:0012124,"""Inflammation of the uveal tract in which the primary site of inflammation is the vitreous."" [HPO:probinson]"
HP:0012125,"""A cancer of the prostate."" [HPO:probinson]"
HP:0012126,"""A cancer arising in any part of the stomach."" [HPO:probinson]"
HP:0012127,"""Increased concentration of uracil in the urine."" [HPO:probinson]"
HP:0012128,"""Death of cells in the basal ganglia."" [HPO:probinson]"
HP:0012129,Abnormality of bone marrow stromal cells
HP:0012130,"""An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes."" [DDD:akelly]"
HP:0012131,"""A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow."" [DDD:akelly]"
HP:0012132,"""Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow."" [DDD:akelly]"
HP:0012133,"""Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow."" [DDD:akelly]"
HP:0012134,Dysplastic erythropoesis
HP:0012135,"""An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell."" [DDD:akelly]"
HP:0012136,Dysplastic granulopoesis
HP:0012137,Abnormal number of granulocyte precursors
HP:0012138,Granulocytic hyperplasia
HP:0012139,"""Decreased number of granulocyte precursors in the bone marrow."" [HPO:akelly]"
HP:0012142,"""A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium."" [HPO:probinson, PMID:19079631]"
HP:0012143,"""Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells."" []"
HP:0012144,"""Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells."" []"
HP:0012145,Abnormality of multiple cell lineages in the bone marrow
HP:0012146,"""Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces."" [DDD:akelly]"
HP:0012147,"""Decreased quantity of von Willebrand factor."" [DDD:akelly]"
HP:0012148,"""Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic."" [DDD:akelly]"
HP:0012149,"""Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic."" [DDD:akelly]"
HP:0012150,"""Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic)."" [DDD:akelly]"
HP:0012151,"""The presence of blood in the pleural space."" [HPO:probinson]"
HP:0012152,"""Splitting of the retinal layers in the macula."" [HPO:probinson]"
HP:0012153,"""An decrease in the level of triglycerides in the blood."" [HPO:probinson]"
HP:0012154,"""Inability to experience pleasure activities usually found enjoyable."" [HPO:probinson]"
HP:0012155,"""Reduced ability of the cornea to respond to stimulation."" [HPO:probinson]"
HP:0012156,"""Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues."" [HPO:probinson]"
HP:0012157,"""Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter."" [HPO:probinson, PMID:20813998]"
HP:0012158,"""A separation (dissection) of the layers of the carotid artery wall."" [HPO:probinson]"
HP:0012159,"""A separation (dissection) of the layers of the internal carotid artery wall."" [HPO:probinson]"
HP:0012160,"""A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall."" [HPO:probinson]"
HP:0012161,"""A separation (dissection) of the layers of the external carotid artery wall."" [HPO:probinson]"
HP:0012162,"""A separation (dissection) of the layers of the common carotid artery wall."" [HPO:probinson]"
HP:0012163,"""A dilatation (balooning or bulging out of the vessel wall) of a carotid artery."" [HPO:probinson]"
HP:0012164,"""A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints."" [HPO:probinson]"
HP:0012165,"""A developmental defect resulting in the presence of fewer than the normal number of digits."" [HPO:probinson]"
HP:0012166,"""Repetitive and compulsive picking of skin which results in tissue damage."" [HPO:probinson, PMID:20575652]"
HP:0012167,"""A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss."" [HPO:probinson]"
HP:0012168,"""Habitual striking of one's own head against a surface such as a mattress or wall of a crib."" [HPO:probinson]"
HP:0012169,"""Habitual biting of one's own body."" [HPO:probinson]"
HP:0012170,"""Habitual biting of one's own fingernails."" [HPO:probinson]"
HP:0012171,"""Habitual clasping and squeezing of the hands."" [HPO:probinson]"
HP:0012172,"""Habitual repetitive movement of the body."" [HPO:probinson]"
HP:0012173,"""An increase in heart rate with standing of 30 beats per minute or more."" [HPO:probinson, PMID:9244228]"
HP:0012174,"""A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation."" [HPO:probinson, NCIT:C3058, PMID:10841526]"
HP:0012175,"""Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay."" [HPO:probinson, PMID:14976057]"
HP:0012176,"""An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells."" [HPO:probinson, PMID:21212348]"
HP:0012177,"""A functional anomaly of the natural killer cell."" [HPO:probinson]"
HP:0012178,"""Reduced ability of the natural killer cell to function in the adaptive immune response."" [HPO:probinson]"
HP:0012179,"""A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia."" [HPO:probinson]"
HP:0012180,"""A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells."" [HPO:probinson]"
HP:0012181,"""Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss."" [HPO:probinson]"
HP:0012182,"""A squamous cell carcinoma that originates in the oropharnyx."" [HPO:probinson]"
HP:0012183,"""Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation."" [HPO:probinson]"
HP:0012184,"""An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood."" [HPO:probinson]"
HP:0012185,"""Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand."" [HPO:probinson]"
HP:0012186,"""An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand."" [HPO:probinson]"
HP:0012187,"""An increased concentration of protoporphyrins in erythrocytes."" [HPO:probinson, PMID:18760763]"
HP:0012188,"""Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight."" [HPO:probinson, OMIM:603373]"
HP:0012189,"""A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells."" [HPO:probinson]"
HP:0012190,"""A type of lymphoma that originates in T-cells."" [HPO:probinson]"
HP:0012191,"""A type of lymphoma that originates in B-cells."" [HPO:probinson]"
HP:0012192,"""A type of T-cell lymphoma that exhibits malignant infiltration of the skin."" [HPO:probinson]"
HP:0012193,"""A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei."" [HPO:probinson]"
HP:0012194,"""Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body."" [HPO:probinson]"
HP:0012195,"""Uneven rhythm of breathing."" [HPO:probinson]"
HP:0012196,"""An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes."" [HPO:probinson]"
HP:0012197,"""A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia."" [HPO:probinson, NCIT:C95598]"
HP:0012198,"""The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands."" [HPO:probinson, PMID:17768394, PMID:25022750]"
HP:0012199,"""A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs."" [HPO:probinson, PMID:21912573]"
HP:0012200,"""An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade."" [HPO:probinson]"
HP:0012202,"""An increase in the concentration of bile acid in the blood."" [HPO:probinson]"
HP:0012203,"""A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split."" [HPO:probinson]"
HP:0012204,"""Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida."" [HPO:probinson]"
HP:0012205,"""Any structural anomaly of the acrosome resulting in a round sperm head."" [HPO:probinson, MP:0002686]"
HP:0012206,"""An anomaly of the mobility of ejaculated sperm."" [HPO:probinson]"
HP:0012207,"""An abnormal reduction in the mobility of ejaculated sperm."" [HPO:probinson]"
HP:0012208,"""A lack of mobility of ejaculated sperm."" [HPO:probinson]"
HP:0012209,"""Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor."" [HPO:probinson, PMID:18954903]"
HP:0012210,"""Any structural anomaly of the kidney."" [HPO:probinson]"
HP:0012211,"""An abnormal functionality of the kidney."" [HPO:probinson]"
HP:0012212,"""An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time."" [HP:probinson, PMID:25710660]"
HP:0012213,"""An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time."" [HP:probinson, PMID:25710660]"
HP:0012214,"""An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time."" [HP:probinson]"
HP:0012215,"""The deposition of calcium phosphate microliths within the seminiferous tubules."" [HPO:probinson]"
HP:0012216,"""An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region."" [HPO:probinson]"
HP:0012217,"""Increased concentration of porphobilinogen in the urine."" [HPO:probinson, PMID:11861450]"
HP:0012218,"""A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue."" [HPO:probinson, PMID:11244503]"
HP:0012219,"""An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral."" [HPO:probinson]"
HP:0012220,"""The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese)."" [HPO:probinson]"
HP:0012221,"""A type of blistering that affects the skin of the tibial region."" [HPO:probinson, PMID:15265795]"
HP:0012222,"""The presence of multiple hemangiomas in the arachnoid."" [HPO:probinson]"
HP:0012223,"""A breach of the capsule of the spleen."" [HPO:probinson]"
HP:0012224,"""Persistence of immune complexes in the blood circulation."" [HPO:probinson]"
HP:0012225,"""Reduced number of primary teeth."" [HPO:probinson]"
HP:0012226,"""The presence of a teratoma in the ovary."" [HPO:probinson]"
HP:0012227,"""Narrowing of the urethra associated with inflammation or scar tissue."" [HPO:probinson]"
HP:0012228,"""A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs."" [HPO:probinson]"
HP:0012229,"""An increased white blood cell count in the cerebrospinal fluid."" [HPO:probinson]"
HP:0012230,"""A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium."" [HPO:probinson]"
HP:0012231,"""A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium."" [HPO:probinson, ORCID:0000-0003-0986-4123]"
HP:0012232,"""Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)."" [HPO:probinson]"
HP:0012233,"""Blood clot formed within muscle tissue following leakage of blood into the tissue."" [HPO:probinson]"
HP:0012234,"""Marked decrease in the number of granulocytes."" [HPO:probinson]"
HP:0012235,"""A type of agranulocytosis related to ingestion of a specific medication."" [HPO:probinson]"
HP:0012236,"""An increased concentration of chloride in the sweat."" [HPO:probinson]"
HP:0012237,"""An increased concentration of urocanic acid in the urine."" [HPO:probinson]"
HP:0012238,"""Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins."" [HPO:probinson, MP:0009699]"
HP:0012239,"""Absence of transferrin, a protein that transports iron, in the blood."" [HPO:probinson]"
HP:0012240,"""An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images."" [HPO:probinson, PMID:20691590]"
HP:0012241,"""Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid."" [HPO:probinson]"
HP:0012242,"""Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe."" [HPO:probinson]"
HP:0012243,"""A structural or developmental anomaly of any of the tissues involved in the genital system."" [HPO:probinson, MP:0002160]"
HP:0012244,"""Anomaly of primary or secondary sexual development or characteristics."" [HPO:probinson, MP:0002210]"
HP:0012245,"""Development of the reproductive system is inconsistent with the chromosomal sex."" [HPO:probinson, MP:0005652]"
HP:0012246,"""Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)."" [HPO:probinson]"
HP:0012247,"""Anosmia for one particular odor."" [HPO:probinson]"
HP:0012248,"""Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)."" [HPO:probinson, PMID:23677846]"
HP:0012249,"""An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment."" [HPO:probinson]"
HP:0012250,"""An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line."" [HPO:probinson]"
HP:0012251,"""An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line."" [HPO:probinson]"
HP:0012252,"""A structural anomaly of the respiratory system."" [HPO:probinson]"
HP:0012253,"""Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi."" [HPO:probinson, MP:0010942]"
HP:0012254,"""A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones."" [HPO:probinson, PMID:17272319]"
HP:0012255,"""An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy."" [HPO:probinson, PMID:19606528]"
HP:0012256,"""Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy."" [HPO:probinson, PMID:19606528]"
HP:0012257,"""Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy."" [HPO:skoehler, PMID:19606528]"
HP:0012258,"""Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms."" [HPO:probinson, PMID:19606528]"
HP:0012259,"""Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy."" [HPO:probinson, PMID:19606528]"
HP:0012260,"""A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration."" [HPO:probinson, PMID:19200523]"
HP:0012261,"""Any functional anomaly of the respiratory motile cilia."" [HPO:probinson, MP:0011055]"
HP:0012262,"""Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions."" [HPO:probinson, PMID:19606528, PMID:20301301]"
HP:0012263,Immotile cilia
HP:0012264,"""Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration."" [HPO:probinson]"
HP:0012265,"""A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia."" [HPO:probinson, PMID:19606528]"
HP:0012266,"""A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG."" [HPO:probinson, PMID:17592081]"
HP:0012267,"""Absence of the radial spokes of the axoneme of the respiratory cilium."" [HPO:probinson, PMID:19606528]"
HP:0012268,"""A liposarcoma that contains myxomatous tissue."" [HPO:probinson]"
HP:0012269,"""Any anomaly in the amount of glycogen in muscle tissue."" [HPO:probinson]"
HP:0012270,"""A decreased amount of glycogen in muscle tissue."" [HPO:probinson]"
HP:0012271,"""Intermittent episodes of increased resistance to the passage of air in the upper airway."" [HPO:probinson]"
HP:0012272,"""The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point."" [HPO:probinson, PMID:19561994]"
HP:0012273,"""An increase in the combined thickness of the intima and media of the carotid artery."" [HPO:probinson, PMID:9878640]"
HP:0012274,"""A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing."" [HPO:probinson, PMID:18678320]"
HP:0012275,"""A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing."" [HPO:probinson]"
HP:0012276,"""Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit."" [HPO:probinson, PMID:16443118]"
HP:0012277,"""An abnormally reduced concentration of glycine in the blood."" [HPO:probinson]"
HP:0012278,"""Any deviation from the normal concentration of serine in the blood circulation."" [HPO:probinson]"
HP:0012279,"""Reduced concentration of serine in the blood."" [HPO:probinson]"
HP:0012280,"""A form of amyloidosis that affects the liver."" [HPO:probinson]"
HP:0012281,"""Extravasation of chyle into the peritoneal cavity."" [HPO:probinson]"
HP:0012282,"""An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days."" [HPO:probinson]"
HP:0012283,"""Reduced size of the Distal epiphysis of femur."" [HPO:probinson]"
HP:0012284,"""Reduced size of the proximal epiphysis of the tibia."" [HPO:probinson]"
HP:0012285,"""An abnormal functionality of the hypothalamus."" [HPO:probinson]"
HP:0012286,"""Any structural anomaly of the hypothalamus."" [HPO:probinson]"
HP:0012287,"""Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus."" [HPO:probinson]"
HP:0012288,"""A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx."" [HPO:probinson]"
HP:0012289,"""A tumor (abnormal growth of tissue) of the face."" [HPO:probinson]"
HP:0012292,"""A congenital defect with an abnormal joining of the gums of the upper and lower jaw."" [HPO:probinson, PMID:19858676]"
HP:0012293,"""An abnormal pigmentation pattern of the external genitalia."" [HPO:probinson]"
HP:0012294,"""Abnormality of the occipital bone of the skull."" [HPO:probinson]"
HP:0012295,"""Reduced diameter of the middle phalanx of finger."" [HPO:probinson]"
HP:0012296,"""Reduced diameter of the distal phalanx of finger."" [HPO:probinson]"
HP:0012297,"""Reduced diameter of the proximal phalanx of finger."" [HPO:probinson]"
HP:0012298,"""Increased length of the middle phalanx of finger."" [HPO:probinson]"
HP:0012299,"""Increased length of the distal phalanx of finger."" [HPO:probinson]"
HP:0012300,"""Failure of the ureter to undergo development."" [HPO:probinson]"
HP:0012301,"""Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation."" [HPO:probinson, PMID:15105360, PMID:22516080]"
HP:0012302,"""Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction."" [HPO:probinson, PMID:27106239]"
HP:0012303,"""An anomaly of the arch of aorta."" [HPO:probinson]"
HP:0012304,"""Underdevelopment of the arch of aorta."" [HPO:probinson]"
HP:0012305,"""Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta."" [HPO:probinson]"
HP:0012306,"""An anomaly of the process of rib bone formation."" [HPO:probinson]"
HP:0012307,"""Ribs that are increased in width and taper to the posterior ends."" [HPO:probinson, PMID:20504305]"
HP:0012308,"""A reduced level of the complement component C9 in circulation."" [https://emedicine.medscape.com/article/135478-overview]"
HP:0012309,"""The presence of amyloid deposition in the superficial dermis."" [HPO:probinson, PMID:19690585]"
HP:0012310,"""An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells."" [HPO:probinson]"
HP:0012311,"""An increased number of circulating monocytes."" [HPO:probinson]"
HP:0012312,"""An decreased number of circulating monocytes."" [HPO:probinson]"
HP:0012313,"""Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically."" [HPO:probinson, PMID:10531070, PMID:17488856, PMID:9709182]"
HP:0012314,"""Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically."" [HPO:probinson, PMID:10531070, PMID:9709182]"
HP:0012315,"""A neoplasm containing histiocytes."" [HPO:probinson]"
HP:0012316,"""Any neoplasm composed of fibrous tissue."" [HPO:probinson]"
HP:0012317,"""Inflammation of the sacroiliac joint, generally accompanied by lower back pain."" [HPO:probinson]"
HP:0012318,"""A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side."" [HPO:probinson, PMID:21569290]"
HP:0012319,"""Lack of skin pigmentation (coloring) of the abdomen."" [HPO:probinson]"
HP:0012320,"""Lack of skin pigmentation (coloring) of the arms and legs."" [HPO:probinson]"
HP:0012321,"""An increased concentration of 2-hydroxyglutaric acid in the urine."" [HPO:probinson, PMID:20847235]"
HP:0012322,"""Inflammation surrounding hair follicles."" [HPO:probinson]"
HP:0012323,"""Myoclonus that occurs during the initial phases of sleep."" [HPO:probinson]"
HP:0012324,"""A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow."" [HPO:probinson]"
HP:0012325,"""A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement."" [NCIT:C3178]"
HP:0012326,"""An anomaly of the celiac artery."" [HPO:probinson]"
HP:0012327,"""Compression of the celiac artery."" [HPO:probinson]"
HP:0012328,"""An odontogenic tumor of the cementum of tooth."" [HPO:probinson]"
HP:0012329,"""A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation."" [HPO:probinson, PMID:2644316]"
HP:0012330,"""An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices."" [HPO:probinson]"
HP:0012331,"""A structural abnormality of the autonomic nervous system."" [HPO:probinson]"
HP:0012332,"""A functional abnormality of the autonomic nervous system."" [HPO:probinson]"
HP:0012333,"""An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration."" [HPO:probinson]"
HP:0012334,"""Impairment of bile flow due to obstruction in large bile ducts outside the liver."" [HPO:probinson]"
HP:0012335,"""An abnormality of the metabolism of folic acid, which is also known as vitamin B9."" [HPO:probinson]"
HP:0012337,"""An anomaly in the processes involved in the maintenance of an internal equilibrium."" [HPO:probinson]"
HP:0012338,"""Any anomaly in the utilization of energy (calories)."" [HPO:probinson]"
HP:0012339,"""An increase in the number of calories used per unit time."" [HPO:probinson]"
HP:0012340,"""A reduction in the number of calories used per unit time."" [HPO:probinson]"
HP:0012341,"""A pituitary prolactin cell adenoma of less than 10 mm diameter."" [HPO:probinson]"
HP:0012342,"""A pituitary prolactin cell adenoma of more than 10 mm diameter."" [HPO:probinson]"
HP:0012343,"""Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood."" [HPO:probinson]"
HP:0012344,"""Isolated patches of hardened skin (scleroderma)."" [HPO:probinson]"
HP:0012345,"""An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule."" [HPO:probinson]"
HP:0012346,"""An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins."" [HPO:probinson]"
HP:0012347,"""An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein."" [HPO:probinson, PMID:22516080]"
HP:0012348,"""A reduction in the amount of galactose residues of N-glycans."" [HPO:probinson]"
HP:0012349,"""An anomaly of the addition of sialic acids to N-linked glycans."" [HPO:probinson]"
HP:0012350,"""Decreased addition of sialic acids to N-linked glycans."" [HPO:probinson]"
HP:0012351,"""Increased addition of sialic acids to N-linked glycans."" [HPO:probinson]"
HP:0012352,"""An anomaly of the addition of fucose sugar units to N-linked glycans."" [HPO:probinson]"
HP:0012353,"""Decreased addition of fucose sugar units to N-linked glycans."" [HPO:probinson]"
HP:0012354,"""Increased addition of fucose sugar units to N-linked glycans."" [HPO:probinson]"
HP:0012355,"""An anomaly of the addition of mannose to N-linked glycans."" [HPO:probinson]"
HP:0012356,"""Reduced addition of mannose to N-linked glycans."" [HPO:probinson]"
HP:0012357,"""Increased addition of mannose to N-linked glycans."" [HPO:probinson]"
HP:0012358,"""An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue."" [HPO:probinson]"
HP:0012359,"""An anomaly of the addition of fucose sugar units to O-linked glycans."" [HPO:probinson]"
HP:0012360,"""A reduction of the addition of fucose sugar units to O-linked glycans."" [HPO:probinson]"
HP:0012361,"""Increased addition of fucose sugar units to O-linked glycans."" [HPO:probinson]"
HP:0012362,"""An anomaly of the addition of sialic acids to O-linked glycans."" [HPO:probinson]"
HP:0012363,"""An reduced addition of sialic acids to O-linked glycans."" [HPO:probinson]"
HP:0012364,"""A decreased concentration of potassium(1+) in the urine."" [HPO:probinson]"
HP:0012365,"""An abnormally decreased phosphate concentration in the urine."" [HPO:probinson]"
HP:0012366,"""Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama)."" [HPO:probinson, PMID:10084535]"
HP:0012367,"""Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull."" [HPO:probinson]"
HP:0012368,"""Absence of concavity or convexity of the face when viewed in profile."" [PMID:19125436]"
HP:0012370,"""Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'."" [ORCID:0000-0001-5889-4463, PMID:19125436]"
HP:0012371,"""Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face"" [HPO:probinson, PMID:19125436]"
HP:0012372,"""A structural anomaly of the globe of the eye, or bulbus oculi."" [HPO:probinson]"
HP:0012373,"""A functional anomaly of the eye."" [HPO:probinson]"
HP:0012375,"""Edema (swelling) of the bulbar conjunctiva."" [HPO:probinson]"
HP:0012376,"""Abnormal smallness of the lens."" [HPO:probinson]"
HP:0012377,"""Partial or complete loss of vision in one half of the visual field of one or both eyes."" [HPO:probinson]"
HP:0012378,"""A subjective feeling of tiredness characterized by a lack of energy and motivation."" [HPO:probinson]"
HP:0012379,"""An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme."" [HPO:probinson, MP:0005584]"
HP:0012380,"""Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine."" [HPO:probinson]"
HP:0012381,"""A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age)."" [HPO:probinson]"
HP:0012382,"""Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right."" [HPO:mhaendel]"
HP:0012383,"""Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa."" [HPO:mhaendel]"
HP:0012384,"""Inflammation of the nasal mucosa with nasal congestion."" [HPO:probinson]"
HP:0012385,"""The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension."" [HPO:probinson]"
HP:0012386,"""Aplasia of the hallux, that is, a development defect such that the big toe does not develop."" [HPO:probinson]"
HP:0012387,"""Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi."" [HPO:probinson]"
HP:0012388,"""Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness."" [HPO:probinson]"
HP:0012389,"""Muscular hypotonia of one or more limbs."" [HPO:probinson]"
HP:0012390,"""A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus."" [HPO:probinson]"
HP:0012391,"""Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping."" [HPO:probinson]"
HP:0012392,"""Reduced intensity of muscle tendon reflexes in jaw."" [HPO:probinson]"
HP:0012393,"""An allergy is an immune response or reaction to substances that are usually not harmful."" [HPO:probinson]"
HP:0012394,"""Allergy to iodine contrast media used in radiological studies."" [HPO:probinson]"
HP:0012395,"""An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction."" [HPO:probinson]"
HP:0012396,"""A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction."" [HPO:probinson, PMID:12095476]"
HP:0012397,"""The presence of atheromas or atherosclerotic plaques in the aorta."" [HPO:probinson, PMID:16818829]"
HP:0012398,"""An abnormal accumulation of interstitial fluid in the soft tissues of the limbs."" [HPO:probinson]"
HP:0012399,"""A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips."" [HPO:probinson]"
HP:0012400,"""An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate."" [HPO:probinson]"
HP:0012401,"""A deviation from normal of the concentration of 2-oxoglutaric acid in the urine."" [HPO:probinson]"
HP:0012402,"""A greater than normal concentration of 2-oxoglutaric acid in the urine."" [HPO:probinson]"
HP:0012403,"""A lower than normal concentration of 2-oxoglutaric acid in the urine."" [HPO:probinson]"
HP:0012404,"""A deviation from normal of the concentration of citrate(3-) in the urine."" [HPO:probinson]"
HP:0012405,"""A lower than normal concentration of citrate(3-) in the urine."" [HPO:probinson]"
HP:0012406,"""A greater than normal concentration of citrate(3-) in the urine."" [HPO:probinson]"
HP:0012407,"""A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use."" [HPO:probinson]"
HP:0012408,"""The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney)."" [ORCID:0000-0001-5208-3432]"
HP:0012409,"""The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla)."" [HPO:probinson]"
HP:0012410,"""A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction."" [HPO:probinson]"
HP:0012411,"""The onset of growth of pubic hair at an earlier age than normal."" [HPO:probinson]"
HP:0012412,"""Onset of adrenarche at an earlier age than usual."" [HPO:probinson]"
HP:0012413,"""The presence of a V-shaped indentation (notch) in the primary central incisor."" [HPO:probinson]"
HP:0012414,"""Wasting or decrease in size of all or part of the duodenum."" [HPO:probinson]"
HP:0012415,"""An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood."" [HPO:probinson]"
HP:0012416,"""Abnormally elevated blood carbon dioxide (CO2) level."" [HPO:probinson]"
HP:0012417,"""Abnormally reduced blood carbon dioxide (CO2) level."" [HPO:probinson]"
HP:0012418,"""An abnormally low level of blood oxygen."" [HPO:probinson]"
HP:0012419,"""An abnormally high level of blood oxygen."" [HPO:probinson]"
HP:0012420,"""Amniotic fluid containing the earliest stools of a mammalian infant."" [HPO:probinson]"
HP:0012421,"""Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis."" [HPO:probinson]"
HP:0012422,"""Overgrowth of the choroid plexus."" [HPO:probinson, PMID:16523225]"
HP:0012423,"""The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days."" [HPO:probinson, PMID:23449085]"
HP:0012424,"""An inflammation of the choroid and retina."" [ORCID:0000-0001-5208-3432, PMID:16196117]"
HP:0012425,"""An ulcer of the colon due to pressure and irritation from retained fecal masses."" [ORCID:0000-0001-5208-3432, PMID:7065551]"
HP:0012426,"""Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve."" [HPO:probinson, PMID:22787500, PMID:23658477, PMID:30524490]"
HP:0012427,"""An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward."" [HPO:probinson, ORCID:0000-0001-5208-3432, PMID:32579722]"
HP:0012428,"""Protruding heel bone, or calcaneus."" [ORCID:0000-0001-5208-3432]"
HP:0012429,"""Absence or underdevelopment of the cerebral white matter."" [HPO:probinson]"
HP:0012430,"""Underdevelopment of the cerebral white matter."" [HPO:probinson]"
HP:0012431,"""Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation."" [HPO:probinson]"
HP:0012432,"""Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer."" [ORCID:0000-0001-5208-3432]"
HP:0012433,"""An abnormality of actions or reactions of a person taking place during interactions with others."" [HPO:probinson]"
HP:0012434,"""A failure to meet one or more age-related milestones of social behavior."" [HPO:probinson]"
HP:0012435,"""Reduction in length of the ventral (lower) skin of prepuce of penis."" [ORCID:0000-0001-5208-3432]"
HP:0012436,"""Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries."" [ORCID:0000-0001-5208-3432]"
HP:0012437,"""A structural anomaly of the gallbladder."" [HPO:probinson]"
HP:0012438,"""A functional anomaly of the gallbladder."" [HPO:probinson]"
HP:0012439,"""A functional abnormality of the biliary tree."" [HPO:probinson]"
HP:0012440,"""A structural abnormality of the biliary tree."" [HPO:probinson]"
HP:0012441,"""Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum."" [HPO:probinson]"
HP:0012442,"""Reduced motility of the gallbladder with reduced emptying fraction."" [HPO:probinson, PMID:12095476, PMID:17761125]"
HP:0012443,"""A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain."" [HPO:probinson]"
HP:0012444,"""Partial or complete wasting (loss) of brain tissue that was once present."" [HPO:probinson]"
HP:0012446,"""A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite."" [HPO:probinson]"
HP:0012447,"""Any anomaly in the process by which myelin sheaths are formed and maintained around neurons."" [HPO:probinson, MP:0000920]"
HP:0012448,"""Delayed myelination."" [ORCID:0000-0001-5208-3432]"
HP:0012449,"""Inflammation of the synovial membrane of the sacroiliac joint."" [ORCID:0000-0001-5208-3432]"
HP:0012450,"""Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation."" [ORCID:0000-0001-5208-3432]"
HP:0012451,"""Constipation of sudden onset and lasting for less than three months."" [ORCID:0000-0001-5208-3432]"
HP:0012452,"""A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia)."" [HPO:probinson]"
HP:0012453,"""A chronic loss of wrist joint motion on the right and left sides."" [HPO:probinson]"
HP:0012454,"""A chronic loss of wrist joint motion on one side only."" [HPO:probinson]"
HP:0012456,"""Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries."" [HPO:probinson]"
HP:0012457,"""Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries."" [HPO:probinson]"
HP:0012458,"""Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries."" [HPO:probinson]"
HP:0012459,"""A headache disorder that occurs exclusively at night, waking the affected individual from sleep."" [HPO:probinson, PMID:20585827, PMID:23832130]"
HP:0012460,"""A structural anomaly of the inferior portion of the vermis of cerebellum."" [ORCID:0000-0001-5208-3432]"
HP:0012461,"""The presence of bacteria in the urine."" [ORCID:0000-0001-5208-3432]"
HP:0012462,"""Involuntary and irregular twitches of the chin."" [HPO:probinson, PMID:16816905]"
HP:0012463,"""An above normal level of saturation of serum transferrin with iron."" [HPO:probinson]"
HP:0012464,"""A below normal level of saturation of serum transferrin with iron."" [HPO:probinson]"
HP:0012465,"""An increased level of iron in liver tissues."" [HPO:probinson, PMID:10922422, PMID:14668426]"
HP:0012466,"""Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L)."" [HPO:probinson]"
HP:0012467,"""Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35)."" [HPO:probinson]"
HP:0012468,"""Longstanding abnormal acid accumulation or depletion of base."" [ORCID:0000-0001-5208-3432]"
HP:0012469,"""Infantile spasms represent a subset of \""epileptic spasms\"". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)."" [HPO:ihelbig]"
HP:0012470,"""An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid."" [HPO:probinson, PMID:17030938]"
HP:0012471,"""Increased width of the skin of vermilion border region of upper lip."" [HPO:probinson]"
HP:0012472,"""A turning outward of the lip or lips, that is, eversion of the lips."" [HPO:probinson]"
HP:0012473,"""Wasting of the tongue."" [ORCID:0000-0001-5208-3432]"
HP:0012474,"""Complete obstruction of a carotid artery."" [ORCID:0000-0001-5208-3432]"
HP:0012475,"""The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism."" [HPO:probinson, PMID:17100769]"
HP:0012476,"""The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci."" [HPO:probinson]"
HP:0012477,"""A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability."" [HPO:probinson, PMID:22505778]"
HP:0012478,"""Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening."" [ORCID:0000-0001-5208-3432]"
HP:0012479,"""Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound."" [HPO:probinson]"
HP:0012480,"""An anomaly of cerebral veins."" [HPO:probinson]"
HP:0012481,"""A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system."" [HPO:probinson, PMID:8770251]"
HP:0012482,"""A venous angioma of the frontal lobe of the brain."" [HPO:probinson]"
HP:0012483,"""Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury."" [DDD:wouwehand, PMID:8467233]"
HP:0012484,"""Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin."" [DDD:wouwehand]"
HP:0012485,"""An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction."" [HPO:probinson, PMID:1760557]"
HP:0012486,"""Inflammation of the spinal cord."" [HPO:probinson]"
HP:0012487,"""An arachnoid cyst located at the margin of the cerebellum and pons."" [ORCID:0000-0001-5208-3432]"
HP:0012488,"""An arachnoid cyst located within the ventricular system."" [HPO:probinson, PMID:8951893]"
HP:0012489,"""An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards."" [HPO:probinson, PMID:21586175]"
HP:0012490,"""Inflammation of adipose tissue."" [HPO:probinson]"
HP:0012491,"""An anomaly of the intracellular membrane complexes known as the dense tubular system."" [DDD:wouwehand, PMID:1322202]"
HP:0012492,"""Narrowing or constriction of the inner surface (lumen) of a cerebral artery."" [ORCID:0000-0001-5208-3432]"
HP:0012493,"""Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery."" [HPO:probinson]"
HP:0012494,"""Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery."" [HPO:probinson]"
HP:0012495,"""Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery."" [HPO:probinson]"
HP:0012496,"""A decrease in the maximum amount of negative pressure a person can generate during an inhalation."" [ORCID:0000-0001-5208-3432]"
HP:0012497,"""A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration."" [ORCID:0000-0001-5208-3432]"
HP:0012498,"""A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times."" [HPO:probinson]"
HP:0012499,"""A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space."" [HPO:probinson]"
HP:0012500,"""A wartlike (with multiple small elevated projections) papule."" [HPO:probinson]"
HP:0012501,"""An anomaly of the white matter of brainstem."" [HPO:probinson]"
HP:0012502,"""An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus."" [HPO:probinson]"
HP:0012503,"""An anomaly of the pituitary gland."" [HPO:probinson]"
HP:0012504,"""A deviation from the normal size of the pituitary gland."" [HPO:probinson]"
HP:0012505,"""An abnormally increased size of the pituitary gland."" [ORCID:0000-0001-5208-3432]"
HP:0012506,"""An abnormally decreased size of the pituitary gland."" [ORCID:0000-0001-5208-3432]"
HP:0012507,"""Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid."" [HPO:probinson]"
HP:0012508,"""A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank."" [HPO:probinson]"
HP:0012509,"""An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream."" [HPO:probinson]"
HP:0012510,"""An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space."" [HPO:probinson, PMID:22327705, PMID:23838695]"
HP:0012511,"""A pale yellow discoloration of the temporal (lateral) portion of the optic disc."" [HPO:probinson, PMID:19668477]"
HP:0012512,"""A pale yellow discoloration of the entire optic disc."" [HPO:probinson, PMID:19668477]"
HP:0012513,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm."" [ORCID:0000-0001-5208-3432]"
HP:0012514,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg."" [ORCID:0000-0001-5208-3432]"
HP:0012515,"""Reduced ability to flex the femur, that is, to pull the knee upward."" [ORCID:0000-0001-5208-3432]"
HP:0012516,"""An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries."" [ORCID:0000-0001-5208-3432, PMID:22368654]"
HP:0012517,"""An abnormally decreased amount of catalase level."" [HPO:probinson]"
HP:0012518,"""An anomaly of the circle of Willis, also known as the cerebral arterial circle."" [HPO:probinson]"
HP:0012519,"""Underdeveloped posterior communicating artery."" [ORCID:0000-0001-5208-3432]"
HP:0012520,"""Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery."" [ORCID:0000-0001-5208-3432, PMID:17620468, PMID:23867200, PMID:25564639]"
HP:0012521,"""Congenital absence of the optic nerve."" [HPO:probinson]"
HP:0012522,"""A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released."" [HPO:probinson, PMID:22356347]"
HP:0012523,"""Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing)."" [ORCID:0000-0001-5208-3432]"
HP:0012524,"""A deviation from the normal discoid platelet shape."" [DD:WHO]"
HP:0012525,"""An anomalous location and arrangement of platelet alpha granules."" [DDD:wouwehand]"
HP:0012526,"""A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears."" [HPO:probinson, PMID:3877532]"
HP:0012527,"""A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor."" [HPO:probinson]"
HP:0012528,"""A deviation from the normal count of alpha granules per thrombocyte."" [DDD:wouwehand]"
HP:0012529,"""A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated."" [DDD:wouwehand]"
HP:0012530,"""A deviation from the normal count of dense granules per thrombocyte."" [DDD:wouwehand]"
HP:0012531,"""An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage."" [ORCID:0000-0001-5208-3432]"
HP:0012532,"""Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months."" [HPO:probinson, PMID:1875958]"
HP:0012533,"""Pain due to a stimulus that does not normally provoke pain."" [HPO:probinson]"
HP:0012534,"""Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds."" [ORCID:0000-0001-5208-3432]"
HP:0012535,"""An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process."" [HPO:probinson, MP:0003635]"
HP:0012536,"""The presence of circulating autoantibodies to anticardiolipin in the mother."" [ORCID:0000-0001-5208-3432, PMID:1495720, PMID:9722063]"
HP:0012537,"""A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction."" [HPO:probinson]"
HP:0012538,"""A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease."" [HPO:probinson]"
HP:0012539,"""A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells."" [HPO:probinson]"
HP:0012540,"""An epidermoid cyst in the armpit."" [ORCID:0000-0001-5208-3432]"
HP:0012541,"""Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum."" [ORCID:0000-0001-5208-3432]"
HP:0012542,"""Thickened nails without deformity."" [HPO:probinson]"
HP:0012543,"""The presence of hemosiderin in the urine."" [HPO:probinson]"
HP:0012544,"""An increased concentration of fructose 1,6-bisphosphate aldolase in the serum."" [ORCID:0000-0001-5208-3432]"
HP:0012545,"""An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum."" [ORCID:0000-0001-5208-3432]"
HP:0012546,"""A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells."" [HPO:probinson, PMID:18097476]"
HP:0012547,"""Anomalous movements of the eyes that occur without the subject wanting them to happen."" [HPO:probinson]"
HP:0012548,"""Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers"" [HPO:probinson, Neuromics:vstraub]"
HP:0012549,"""A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva."" [HPO:probinson]"
HP:0012550,"""The presence of varices (enlarged and convoluted blood vessels) in the colon."" [HPO:probinson, PMID:16688816]"
HP:0012551,"""Lack of specific granules in neutrophils."" [HPO:probinson, PMID:6155073]"
HP:0012552,"""Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs."" [HPO:probinson]"
HP:0012553,"""A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail."" [HPO:probinson]"
HP:0012554,"""Absence of thumb nail."" [HPO:probinson]"
HP:0012555,"""Absent nail of big toe."" [HPO:probinson]"
HP:0012556,"""Increased concentration of beta-alanine in the blood."" [HPO:probinson]"
HP:0012557,"""EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."" [HPO:probinson]"
HP:0012558,"""A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal."" [HPO:probinson, PMID:16982586]"
HP:0012559,"""A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal."" [HPO:probinson]"
HP:0012560,"""A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal."" [HPO:probinson]"
HP:0012561,"""The presence of an aortic valve with one instead of the normal three cusps (flaps)."" [HPO:probinson, PMID:18480095, PMID:20329493]"
HP:0012562,"""Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."" [HPO:probinson]"
HP:0012563,"""Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."" [HPO:probinson]"
HP:0012564,"""Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."" [HPO:probinson]"
HP:0012565,"""Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."" [HPO:probinson]"
HP:0012566,"""Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."" [HPO:probinson]"
HP:0012567,"""Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."" [HPO:probinson]"
HP:0012568,"""Edema in the region of the Lower eyelid."" [ORCID:0000-0001-5208-3432]"
HP:0012569,"""First period after the age of 15 years."" [HPO:probinson]"
HP:0012570,"""A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities."" [HPO:probinson]"
HP:0012571,"""A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder."" [Eurenomics:ewuehl]"
HP:0012572,"""A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder."" [Eurenomics:fschaefer]"
HP:0012573,"""A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis."" [HPO:probinson]"
HP:0012574,"""Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain."" [Eurenomics:fschaefer, KPMP:arosenberg, PMID:32866505]"
HP:0012575,"""A structural anomaly of the nephron."" [Eurenomics:fschaefer]"
HP:0012576,"""The presence of complement 3 deposits in the glomerulus."" [Eurenomics:ewuehl]"
HP:0012577,"""Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs."" [HPO:probinson, KPMP:arosenberg, PMID:32866505]"
HP:0012578,"""A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space."" [Eurenomics:fschaefer]"
HP:0012579,"""The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria."" [Eurenomics:fschaefer]"
HP:0012580,"""The presence of calcium- and phosphate-containing calculi (stones) in the kidneys."" [HPO:probinson]"
HP:0012581,"""An isolated cyst of the kidney."" [Eurenomics:ewuehl]"
HP:0012582,"""A bilateral form of developmental dysplasia of the kidney."" [HPO:probinson]"
HP:0012583,"""One sided hypoplasia of the kidney."" [Eurenomics:fschaefer]"
HP:0012584,"""Two sided hypoplasia of the kidney."" [Eurenomics:fschaefer]"
HP:0012585,"""Atrophy of the kidney."" [HPO:probinson]"
HP:0012586,"""A two-sided form of atrophy of the kidney."" [HPO:probinson]"
HP:0012587,"""Hematuria that is visible upon inspection of the urine."" [HPO:sdoelken]"
HP:0012588,"""A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication."" [Eurenomics:ewuehl, ORCID:0000-0002-2234-4248, PMID:29910038]"
HP:0012589,"""A form of nephrotic syndrome that does not respond to any immunosuppresive treatment."" [Eurenomics:ewuehl]"
HP:0012590,"""An abnormal amount of urine production."" [Eurenomics:ewuehl]"
HP:0012591,"""An abnormality in the concentration of electrolytes in the urine."" [PMID:25215103]"
HP:0012592,"""Increased concentration of albumin in the urine."" [Eurenomics:fschaefer]"
HP:0012593,"""Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children."" [Eurenomics:ewuehl]"
HP:0012594,"""The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol)."" [Eurenomics:fschaefer, PMID:30571025]"
HP:0012595,"""Mildly increased levels of protein in the urine (150-500 mg per day in adults)."" [Eurenomics:eweuehl]"
HP:0012596,"""Moderately increased levels of protein in the urine (500-1000 mg per day in adults)."" [Eurenomics:fschaefer]"
HP:0012597,"""Severely increased levels of protein in the urine (1000-3000 mg per day in adults)."" [Eurenomics:ewuehl]"
HP:0012598,"""An abnormal concentration of potassium(1+) in the urine."" [Eurenomics:fschaefer]"
HP:0012599,"""An abnormal phosphate concentration in the urine."" [Eurenomics:ewuehl]"
HP:0012600,"""An abnormal concentration of chloride in the urine."" [Eurenomics:fschaefer]"
HP:0012601,"""An decreased concentration of chloride in the urine."" [HPO:probinson]"
HP:0012602,"""High urine chloride in the presence of hypochloridemia."" [Eurenomics:ewuehl]"
HP:0012603,"""An abnormal concentration of sodium in the urine."" [Eurenomics:fschaefer]"
HP:0012604,"""An abnormally decreased sodium concentration in the urine."" [Eurenomics:ewuehl]"
HP:0012605,"""An increased concentration of sodium(1+) in the urine."" [Eurenomics:ewuehl]"
HP:0012606,"""An abnormally increased sodium concentration in the urine in the presence of hyponatremia."" [Eurenomics:ewuehl]"
HP:0012607,"""An abnormal concentration of magnesium the urine."" [Eurenomics:ewuehl]"
HP:0012608,"""An increased concentration of magnesium the urine."" [Eurenomics:fschaefer]"
HP:0012609,"""An decreased concentration of magnesium the urine."" [Eurenomics:fschaefer]"
HP:0012610,"""Abnormal amount of urate in the urine."" [HPO:probinson]"
HP:0012612,"""Abnormal concentration of sulfate in the urine."" [HPO:probinson]"
HP:0012613,"""Elevated concentration of SO4(2-), i.e., sulfate, in the urine."" [HPO:probinson]"
HP:0012614,"""An anomalous finding in the examination of the urine for cells."" [Eurenomics:ewuehl]"
HP:0012615,"""The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine."" [Eurenomics:ewuehl, PMID:26079824]"
HP:0012616,"""Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine."" [Eurenomics:fschaefer]"
HP:0012617,"""Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine."" [Eurenomics:fschaefer, PMID:8856231]"
HP:0012618,"""A cyst located along the allantois canal."" [Eurenomics:fschaefer]"
HP:0012619,"""Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder."" [Eurenomics:fschaefer]"
HP:0012620,"""A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate."" [HPO:probinson]"
HP:0012621,"""Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel."" [HPO:probinson]"
HP:0012622,"""Functional anomaly of the kidney persisting for at least three months."" [Eurenomics:ewuehl]"
HP:0012623,"""A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2)."" [Eurenomics:fschaefer]"
HP:0012624,"""A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2)."" [Eurenomics:fschaefer]"
HP:0012625,"""A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2)."" [Eurenomics:fschaefer]"
HP:0012626,"""A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2)."" [Eurenomics:fschaefer]"
HP:0012627,"""Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor."" [HPO:probinson, PMID:23157966]"
HP:0012628,"""An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place."" [HPO:probinson]"
HP:0012629,"""Tremulousness (trembling) of the lens of the eye."" [HPO:probinson, PMID:5472193]"
HP:0012630,"""An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm."" [HPO:probinson]"
HP:0012631,"""Accumulation of abnormal amounts of pigment within the trabecular meshwork."" [HPO:probinson]"
HP:0012632,"""An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye."" [HPO:probinson]"
HP:0012633,"""A difference in the amount of intraocular pressure in the right and left eye."" [HPO:probinson]"
HP:0012634,"""Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor."" [HPO:probinson]"
HP:0012635,"""Reduction in the amount of blood flow to the iris."" [HPO:probinson]"
HP:0012636,"""Blockage of the retinal vein."" [HPO:probinson]"
HP:0012637,"""High urine calcium in the presence of hypocalcemia."" [HPO:probinson]"
HP:0012638,"""A functional anomaly of the nervous system."" [HPO:probinson]"
HP:0012639,"""A structural anomaly of the nervous system."" [HPO:probinson]"
HP:0012640,"""A deviation from the norm of the intracranial pressure."" [HPO:probinson]"
HP:0012641,"""A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid."" [HPO:probinson]"
HP:0012642,"""Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles."" [HPO:probinson, PMID:20305277, PMID:26331051]"
HP:0012643,"""Decreased amount of pigmentation in the fovea centralis."" [HPO:probinson]"
HP:0012644,"""An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging."" [HPO:probinson, PMID:23810640]"
HP:0012645,"""Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve."" [HPO:probinson]"
HP:0012646,"""A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex."" [HPO:probinson, PMID:23061004, PMID:4380054]"
HP:0012647,"""Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages."" [MONARCH:mhaendel]"
HP:0012648,"""An abnormal reduction in the inflammatory response to injury or infection."" [MONARCH:mhaendel]"
HP:0012649,"""A abnormal increase in the inflammatory response to injury or infection."" [MONARCH:mhaendel]"
HP:0012650,"""Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly."" [COST:neuromig, HPO:probinson, PMID:15159468, PMID:20301504]"
HP:0012651,"""A severe form of gait ataxia such that an affected person cannot walk at all."" [HPO:probinson]"
HP:0012652,"""Asthma attacks following exercise."" [HPO:probinson]"
HP:0012653,"""Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine."" [HPO:probinson, PMID:22794687]"
HP:0012654,"""Abnormal concentration of dopamine in the cerebrospinal fluid (CSF)."" [Monarch:mhaendel]"
HP:0012655,"""Increased concentration of dopamine in the cerebrospinal fluid (CSF)."" [Monarch:mhaendel]"
HP:0012656,"""Decreased concentration of dopamine in the cerebrospinal fluid (CSF)."" [Monarch:mhaendel]"
HP:0012657,"""A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain."" [HPO:probinson]"
HP:0012658,"""An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity."" [HPO:probinson]"
HP:0012659,"""Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan."" [HPO:probinson, PMID:23585882]"
HP:0012660,"""Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan."" [HPO:probinson]"
HP:0012661,"""Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan."" [HPO:probinson]"
HP:0012662,"""Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan."" [HPO:probinson, PMID:15073255]"
HP:0012663,"""A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent."" [HPO:probinson, PMID:16376782, PMID:27206819]"
HP:0012664,"""A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle."" [HPO:probinson]"
HP:0012665,"""A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent."" [HPO:probinson, PMID:16376782, PMID:27206819, PMID:29083812]"
HP:0012666,"""A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent."" [HPO:probinson, PMID:16376782, PMID:27206819, PMID:29083812]"
HP:0012667,"""An abnormal motion of a segment of the left ventricle during the cardiac cycle."" [HPO:probinson]"
HP:0012668,Vasovagal syncope
HP:0012669,"""An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion."" [HPO:probinson]"
HP:0012670,"""Syncope following a quick change in position from lying down to standing."" [HPO:probinson]"
HP:0012671,"""Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency."" [HPO:probinson, PMID:16030444, UToronto:HTrang]"
HP:0012672,"""Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking."" [HPO:probinson]"
HP:0012673,"""A failure to develop of the upper vagina."" [HPO:probinson]"
HP:0012674,"""A failure to develop of the lower part of the vagina."" [HPO:probinson]"
HP:0012675,"""An abnormal build up of iron (Fe) in brain tissue."" [HPO:probinson]"
HP:0012676,"""An anomalous build up of copper (Cu) in the brain."" [HPO:probinson]"
HP:0012678,"""An anomalous build up of iron (Fe) in the substantia nigra."" [HPO:probinson]"
HP:0012679,"""An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces."" [UToronto:htrang]"
HP:0012680,"""An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin."" [HPO:probinson]"
HP:0012681,"""A structural abnormality of the pineal gland."" [UToronto:htrang]"
HP:0012682,"""Accumulation of calcium salts in the pineal gland."" [HPO:probinson]"
HP:0012683,"""A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland."" [HPO:probinson, PMID:21801982]"
HP:0012684,"""An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland."" [UToronto:htrang]"
HP:0012685,"""An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland."" [PMID:24456088, UToronto:htrang]"
HP:0012686,"""An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland."" [UToronto:htrang]"
HP:0012687,"""Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present."" [UToronto:htrang]"
HP:0012688,"""A functional abnormality of the pineal gland."" [UToronto:htrang]"
HP:0012689,"""An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland."" [PMID:22724080, UToronto:htrang]"
HP:0012690,"""A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus."" [HPO:probinson]"
HP:0012691,"""A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus."" [HPO:probinson]"
HP:0012692,"""A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus."" [HPO:probinson]"
HP:0012693,"""Deviation from the normal range of size of the thalamus."" [UToronto:htrang]"
HP:0012694,"""An increase in the quantity of space occupied by the thalamus."" [UToronto:htrang]"
HP:0012695,"""A reduction in the quantity of space occupied by the thalamus."" [UToronto:htrang]"
HP:0012696,"""A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus."" [HPO:probinson]"
HP:0012697,"""Decreased size of the basal ganglia."" [HPO:probinson]"
HP:0012698,"""Focal proliferation of glial cells in the cerebellum."" [UToronto:htrang]"
HP:0012699,"""A structural abnormality of a diaphysis of the leg."" [UToronto:htrang]"
HP:0012700,"""A functional anomaly of the large intestine."" [HPO:probinson]"
HP:0012701,"""A sudden, irresistible need to have a bowel movement."" [UToronto:htrang]"
HP:0012702,"""A repeated, painful urge to defecate without excreting stool."" [HPO:probinson]"
HP:0012703,"""Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid."" [UToronto:htrang]"
HP:0012704,"""An increase in size of the anatomic space between the arachnoid membrane and pia mater."" [HPO:probinson]"
HP:0012705,"""An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS)."" [HPO:probinson]"
HP:0012706,"""An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)."" [UToronto:htrang]"
HP:0012707,"""An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)."" [UToronto:htrang]"
HP:0012708,"""A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)."" [UToronto:htrang]"
HP:0012709,"""A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS)."" [UToronto:htrang]"
HP:0012710,"""Excessive growth of a nail laterally into the nail fold."" [HPO:probinson]"
HP:0012711,"""A delay in the process of formation and maturation of the epiphysis of one or more vertebrae."" [HPO:probinson]"
HP:0012712,"""The presence of a mild form of hearing impairment."" [HPO:probinson]"
HP:0012713,"""The presence of a moderate form of hearing impairment."" [HPO:probinson]"
HP:0012714,"""A severe form of hearing impairment."" [HPO:probinson]"
HP:0012715,"""A profound (essentially complete) form of hearing impairment."" [HPO:probinson]"
HP:0012716,"""The presence of a moderate form of conductive hearing impairment."" [HPO:probinson]"
HP:0012717,"""A severe form of conductive hearing impairment."" [HPO:probinson]"
HP:0012718,"""Abnormal structure of the gastrointestinal tract."" [HPO:probinson]"
HP:0012719,"""Abnormal functionality of the gastrointestinal tract."" [HPO:probinson]"
HP:0012720,"""Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity."" [HPO:probinson]"
HP:0012721,"""A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region."" [HPO:probinson]"
HP:0012722,"""Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway."" [HPO:probinson]"
HP:0012723,"""Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria."" [HPO:probinson]"
HP:0012724,"""Edema in the region of the upper eyelid."" [HPO:probinson]"
HP:0012725,"""A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits."" [HPO:probinson]"
HP:0012726,"""An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes."" [HPO:probinson]"
HP:0012727,"""An abnormal localized widening (dilatation) of the thoracic aorta."" [HPO:probinson]"
HP:0012728,"""A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall"" [HPO:probinson]"
HP:0012729,"""An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall"" [HPO:probinson]"
HP:0012730,"""Absence of the tongue owing to a developmental abnormality."" [HPO:probinson]"
HP:0012731,"""Abnormal anatomic location of the anterior pituitary gland."" [HPO:probinson]"
HP:0012732,"""An abnormality of the anus or rectum."" [HPO:probinson]"
HP:0012733,"""A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin."" [HPO:probinson]"
HP:0012734,"""Low blood glucose is accompanied by elevated levels of ketone bodies in the body."" [HPO:probinson]"
HP:0012735,"""A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation."" [HPO:probinson, PMID:16428719, PMID:17540788]"
HP:0012736,"""A profound delay in the achievement of motor or mental milestones in the domains of development of a child."" [DDD:hvfirth]"
HP:0012737,"""A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base."" [HPO:probinson]"
HP:0012738,"""Agenesis of canine tooth."" [HPO:probinson]"
HP:0012739,"""Failure to develop of the small intestine."" [HPO:probinson]"
HP:0012740,"""A tumor of the skin or mucous membrane with finger-like projections."" [HPO:probinson]"
HP:0012741,"""Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum."" [HPO:probinson]"
HP:0012742,"""Fingernail that appears thin when viewed on end."" [HPO:probinson, PMID:19125433]"
HP:0012743,"""Excessive fat around the stomach and abdomen."" [HPO:probinson]"
HP:0012744,"""Failure of the femur to develop."" [HPO:probinson]"
HP:0012745,"""Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures."" [PMID:19125427]"
HP:0012746,"""Toenail that appears thin when viewed on end."" [HPO:probinson, PMID:19125433]"
HP:0012747,"""A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem."" [UToronto:htrang]"
HP:0012748,"""A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem."" [UToronto:htrang]"
HP:0012749,"""A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem."" [UToronto:htrang]"
HP:0012750,"""A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem."" [UToronto:htrang]"
HP:0012751,"""A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia."" [UToronto:htrang]"
HP:0012752,"""A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia."" [HPO:probinson]"
HP:0012753,"""A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia."" [HPO:probinson]"
HP:0012754,"""Increased amount of myelin in the central nervous system."" [UToronto:htrang]"
HP:0012755,"""Abnormal increase in size of the brainstem."" [UToronto:htrang]"
HP:0012756,"""An increased polymorphonuclear cell count in the cerebrospinal fluid."" [KI:phemming]"
HP:0012757,"""A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions."" [KI:phemming, PMID:28723006]"
HP:0012758,"""Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems."" [ORCID:0000-0002-6670-9157, PMID:31783983]"
HP:0012759,"""A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities."" [KI:phemming]"
HP:0012760,"""A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first."" [KI:phemming]"
HP:0012761,"""A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent."" [HPO:probinson]"
HP:0012762,"""The presence of atrophy (wasting) of the cerebral white matter."" [UToronto:htrang]"
HP:0012763,"""A sudden attack of dyspnea that occurs while the affected person is at rest."" [HPO:probinson]"
HP:0012764,"""A sensation of breathlessness in the recumbent position, relieved by sitting or standing."" [UToronto:htrang]"
HP:0012765,"""An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum."" [UToronto:htrang]"
HP:0012766,"""An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum."" [UToronto:htrang]"
HP:0012767,"""A deviation from normal size of the placenta."" [HPO:probinson]"
HP:0012768,"""Respiratory failure in the newborn."" [HPO:probinson]"
HP:0012769,"""A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)"" [HPO:probinson]"
HP:0012770,"""Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)."" [HPO:probinson]"
HP:0012771,"""Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)."" [HPO:probinson]"
HP:0012772,"""A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis."" [HPO:probinson]"
HP:0012773,"""Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present."" [HPO:probinson]"
HP:0012774,"""Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis."" [HPO:probinson]"
HP:0012775,"""A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel."" [CINEAS:asollie]"
HP:0012776,"""A structural anomaly of the ciliary body."" [CINEAS:asollie]"
HP:0012777,"""A tumor (abnormal growth of tissue) of the retina."" [CINEAS:asollie]"
HP:0012778,"""A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte."" [PMID:20435268, PMID:23436975]"
HP:0012779,"""Hearing loss that occurs acutely and resolves completely."" [PMID:21776317]"
HP:0012780,"""A tumor (abnormal growth of tissue) of the ear."" [HPO:probinson]"
HP:0012781,"""A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz)."" [HPO:probinson]"
HP:0012782,"""A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe."" [HPO:probinson, PMID:20301471]"
HP:0012783,"""A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls."" [HPO:probinson, PMID:20301471]"
HP:0012784,"""Inflammation of the connective and adipose tissues surrounding the kidney."" [HPO:probinson]"
HP:0012785,"""Chronic loss of joint motion in a finger due to structural changes in non-bony tissue."" [HPO:probinson]"
HP:0012786,"""Repeated infections of the urinary bladder."" [HPO:probinson, PMID:20639019]"
HP:0012787,"""Repeated episodes of pyelonephritis."" [HPO:probinson]"
HP:0012788,"""A net-like pattern of increased pigmentation of the oral cavity."" [HPO:probinson]"
HP:0012789,"""Underdevelopment of the heel bone."" [HPO:probinson]"
HP:0012790,"""An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed."" [HPO:probinson]"
HP:0012791,"""An anomaly of the process of formation of bone in the humerus."" [HPO:probinson]"
HP:0012792,"""A lack of bone mineralization of one or more body of thoracic vertebra."" [HPO:probinson]"
HP:0012793,"""A kinked appearance of the brainstem, i.e., an exaggerated flexure."" [HPO:probinson, PMID:16301726]"
HP:0012794,"""Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles."" [HPO:probinson, PMID:16239634]"
HP:0012795,"""A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination."" [HPO:probinson]"
HP:0012796,"""An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells."" [HPO:probinson, PMID:23557744]"
HP:0012797,"""A benign or malignant neoplasm arising from the lymphatic vessels."" [NCIT:C3723]"
HP:0012798,"""Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls."" [HPO:probinson]"
HP:0012799,"""One-sided weakness of the muscles of facial expression and eye closure."" [HPO:probinson]"
HP:0012800,"""A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant."" [HPO:probinson, PMID:20496093]"
HP:0012801,"""Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective)."" [HPO:probinson, PMID:19125436]"
HP:0012802,"""Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)."" [HPO:probinson, PMID:19125436]"
HP:0012803,"""Inequality of refractive power of the two eyes."" [HPO:probinson]"
HP:0012804,"""Disruption of the epithelial layer of the cornea with involvement of the underlying stroma."" [HPO:probinson]"
HP:0012805,"""Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris."" [HPO:probinson, PMID:19920562]"
HP:0012806,"""A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline."" [HPO:probinson, PMID:19152422]"
HP:0012807,"""Insertion of the posterior columella superior to the nasal base."" [PMID:19152422]"
HP:0012808,"""An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face."" [HPO:probinson, PMID:19152422]"
HP:0012809,"""Decreased distance between the attachments of the alae nasi to the face."" [HPO:probinson, PMID:19152422]"
HP:0012810,"""Increased distance between the attachments of the alae nasi to the face."" [HPO:probinson, PMID:19152422]"
HP:0012811,"""Increased width of the nasal ridge."" [HPO:probinson, PMID:19152422]"
HP:0012812,"""Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues."" [HPO:probinson, PMID:19152422]"
HP:0012813,"""Underdevelopment of the breast on one side only."" [HPO:probinson]"
HP:0012814,"""Underdevelopment of the breast on both sides."" [HPO:probinson]"
HP:0012815,"""Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris)."" [HPO:probinson]"
HP:0012816,"""A predominantly right ventricular variant of isolated noncompaction cardiomyopathy."" [HPO:probinson, PMID:23921774]"
HP:0012817,"""A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber."" [HPO:probinson, PMID:15210614, PMID:24282766]"
HP:0012818,"""Noncompaction cardiomyopathy that affects both ventricles."" [HPO:probinson]"
HP:0012819,"""Inflammation of the myocardium."" [HPO:probinson, PMID:21304213, PMID:22185868, PMID:22361396]"
HP:0012820,"""A loss of the ability to move the vocal fold on both sides."" [HPO:probinson]"
HP:0012821,"""Decreased strength of the vocal fold on one side."" [HPO:probinson]"
HP:0012822,"""Decreased strength of the vocal fold on both sides."" [HPO:probinson]"
HP:0012823,"""This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects."" [HPO:probinson]"
HP:0012824,"""The intensity or degree of a manifestation."" [HPO:probinson]"
HP:0012825,"""Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean."" [HPO:probinson]"
HP:0012826,"""Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean."" [HPO:probinson]"
HP:0012827,"""Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean."" [HPO:probinson]"
HP:0012828,"""Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean."" [HPO:probinson]"
HP:0012829,"""Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean."" [HPO:probinson]"
HP:0012830,"""The anatomical localization of the specified phenotypic abnormality."" [HPO:probinson]"
HP:0012831,"""The localization with respect to the side of the body of the specified phenotypic abnormality."" [HPO:probinson]"
HP:0012832,"""Being present on both sides of the body."" [HPO:probinson]"
HP:0012833,"""Being present on only the left or only the right side of the body."" [HPO:probinson]"
HP:0012834,"""Being located on the right side of the body."" [HPO:probinson]"
HP:0012835,"""Being located on the left side of the body."" [HPO:probinson]"
HP:0012836,"""The pattern by which a phenotype affects one or more regions of the body."" [HPO:probinson]"
HP:0012837,"""Affecting all regions without specificity of distribution."" [HPO:probinson]"
HP:0012838,"""Being confined or restricted to a particular location."" [HPO:probinson]"
HP:0012839,"""Localized away from the central point of the body."" [HPO:probinson]"
HP:0012840,"""Localized close to the central point of the body."" [HPO:probinson]"
HP:0012841,"""The presence of an increased number of twists and turns of the retinal blood vessels."" [HPO:probinson]"
HP:0012842,"""A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands."" [NCIT:C4463]"
HP:0012843,"""An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth."" [HPO:probinson, NCIT:C7367]"
HP:0012844,"""A benign tumour originating from the outer root sheath of the hair follicle."" [UToronto:htrang]"
HP:0012845,"""Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle."" [HPO:probinson]"
HP:0012846,"""Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle."" [HPO:probinson]"
HP:0012847,"""Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years)."" [ORCID:0000-0002-1735-8178, PMID:26336950, UToronto:htrang]"
HP:0012848,"""The narrowing or partial blockage of a portion of the small intestine."" [HPO:probinson]"
HP:0012849,"""Bleeding from the small intestine."" [HPO:probinson]"
HP:0012850,"""Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes."" [HPO:probinson]"
HP:0012851,"""A narrowing of a segment of colon whereby bowel continuity is maintained."" [HPO:probinson]"
HP:0012852,"""Hepatic fibrosis that reaches from a portal area to another portal area."" [HPO:probinson, PMID:14568255]"
HP:0012853,"""Hypospadias with location of the urethral meatus in the scrotum."" [HPO:probinson]"
HP:0012854,"""Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis."" [HPO:probinson, PMID:12371222]"
HP:0012855,"""Increased pigmentation (skin color) of the scrotum."" [HPO:probinson]"
HP:0012856,"""Anomaly of the folded ridges (wrinkles) of skin of the scrotum."" [HPO:probinson]"
HP:0012857,"""Increased number or density of the folded ridges (wrinkles) of skin of the scrotum."" [HPO:probinson]"
HP:0012858,"""Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum."" [HPO:probinson]"
HP:0012859,"""A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease."" [PMID:23765246, UToronto:htrang]"
HP:0012860,"""Formation of excess connective tissue in the testicle."" [HPO:probinson]"
HP:0012861,"""A gonad that contains both ovarian follicles and testicular tubular elements."" [HPO:probinson]"
HP:0012862,"""Any structural anomaly of a reproductive cell."" [HPO:probinson]"
HP:0012863,"""A structural anomaly of a male reproductive cell."" [HPO:probinson]"
HP:0012864,"""A structural anomaly of sperm."" [HPO:probinson]"
HP:0012865,"""A structural abnormality of the sperm head."" [HPO:probinson, PMID:22198630]"
HP:0012866,"""A structural abnormality of the sperm neck."" [HPO:probinson, PMID:22198630]"
HP:0012867,"""A structural abnormality of the sperm mid-piece."" [HPO:22198630, HPO:probinson]"
HP:0012868,"""A structural abnormality of the sperm tail."" [HPO:probinson, PMID:22198630]"
HP:0012869,"""Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head."" [HPO:probinson, PMID:10402395]"
HP:0012870,"""A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction."" [HPO:probinson, PMID:22985611]"
HP:0012871,"""A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum."" [HPO:probinson]"
HP:0012872,"""A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct."" [HPO:probinson, MP:0002769]"
HP:0012873,"""Aplasia (congenital absence) of the vas deferens."" [HPO:probinson]"
HP:0012874,"""An abnormal functionality of the male genital system."" [HPO:probinson]"
HP:0012875,"""Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract."" [HPO:probinson]"
HP:0012876,"""The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration."" [HPO:probinson]"
HP:0012877,"""The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm."" [HPO:probinson]"
HP:0012878,"""Difficulty of a male in achieving orgasm."" [HPO:probinson, PMID:24528812]"
HP:0012879,"""Inability to ejaculate."" [HPO:probinson, PMID:24528812]"
HP:0012880,"""An anomaly of the labia minora, the folds of skin between the outer labia."" [HPO:probinson]"
HP:0012881,"""An anomaly of the outer labia."" [HPO:probinson]"
HP:0012882,"""Overgrowth of the outer labia."" [HPO:probinson]"
HP:0012883,"""A fluid filled sac located in the Fallopian tube."" [HPO:probinson]"
HP:0012884,"""A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation."" [HPO:probinson, PMID:24251052]"
HP:0012885,"""The presence of a supernumerary Fallopian tube."" [HPO:probinson, PMID:23532389]"
HP:0012886,"""An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst."" [HPO:probinson, PMID:12928726]"
HP:0012887,"""A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue."" [HPO:probinson, PMID:23766763]"
HP:0012888,"""An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix."" [HPO:probinson]"
HP:0012889,"""Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix."" [HPO:probinson]"
HP:0012890,"""Posterior malposition of the anus."" [UToronto:htrang]"
HP:0012891,"""Hair on the neck extends less inferiorly than usual."" [UToronto:htrang]"
HP:0012892,"""Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve)."" [UToronto:htrang]"
HP:0012893,"""Muscle hypertrophy affecting the muscles of the neck."" [UToronto:htrang]"
HP:0012894,"""Muscle hypertrophy affecting the paraspinal muscles."" [UToronto:htrang]"
HP:0012895,"""Muscle hypertrophy affecting the scapular muscles."" [UToronto:htrang]"
HP:0012896,"""An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways."" [HPO:probinson, PMID:10402095]"
HP:0012897,"""An anomaly identified by motor evoked potentials (MEPs) in the arm."" [UToronto:htrang]"
HP:0012898,"""An anomaly identified by motor evoked potentials (MEPs) in the leg."" [UToronto:htrang]"
HP:0012899,"""Difficulty releasing one's grip associated with prolonged first handgrip relaxation times."" [PMID:22987687, UToronto:htrang]"
HP:0012900,"""Slowed relaxation of muscles in the face."" [UToronto:htrang]"
HP:0012901,"""Slowed relaxation of muscles in the jaw."" [UToronto:htrang]"
HP:0012902,"""Slowed relaxation of muscles in the leg."" [UToronto:htrang]"
HP:0012903,"""Slowed relaxation of muscles in the arm."" [UToronto:htrang]"
HP:0012904,"""An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold."" [PMID:14617673, UToronto:htrang]"
HP:0012905,"""Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening."" [HPO:probinson, PMID:15249382, PMID:15530943, PMID:24719364]"
HP:0020006,"""A coloboma of the ciliary body."" []"
HP:0020034,"""A spatial pattern that is spread out, i.e., not localized."" [HPO:probinson]"
HP:0020035,"""A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg."" [HPO:mtaboada, PMID:25573808]"
HP:0020036,"""A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm."" [HPO:mtaboada, PMID:20301629]"
HP:0020037,"""A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength."" [HPO:mtaboada, PMID:27821973]"
HP:0020038,"""Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm."" [PMID:24765483]"
HP:0020041,"""A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia."" [ORCID:0000-0003-0986-4123, PMID:23479532]"
HP:0020042,"""An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye."" [ORCID:0000-0003-0986-4123]"
HP:0020043,"""A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards."" [ORCID:0000-0003-0986-4123]"
HP:0020044,Horizontal incomitant strabismus
HP:0020045,"""A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally."" [ORCID:0000-0003-0986-4123]"
HP:0020046,"""A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex."" [ORCID:0000-0003-0986-4123]"
HP:0020047,"""Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage."" []"
HP:0020048,"""A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19."" []"
HP:0020049,"""A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally."" [ORCID:0000-0003-0986-4123]"
HP:0020050,"""The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor."" [PMID:23509356]"
HP:0020054,"""Any functional abnormality of erythrocytes (red-blood cells)."" []"
HP:0020058,"""Any deviation from the normal number of red blood cells per volume in the circulation."" []"
HP:0020059,"""An abnormal elevation above the normal number of red blood cells per volume in the circulation."" []"
HP:0020060,"""An abnormal reduction below the normal number of red blood cells per volume in the circulation."" []"
HP:0020061,"""Any deviation from the normal concentration of hemoglobin in the blood."" []"
HP:0020062,"""An abnormal reduction below normal hemoglobin concentration in the circulation."" []"
HP:0020063,"""An abnormal elevation above normal hemoglobin concentration in the circulation."" []"
HP:0020064,"""Any deviation from the normal number of eosinophils per volume in the blood circulation."" []"
HP:0020071,"""The presence of virus in the blood."" []"
HP:0020072,"""Persistent presence of Epstein-Barr virus in the blood."" []"
HP:0020073,"""A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation."" [PMID:24023426]"
HP:0020074,"""The presence of crystals in the urine."" [PMID:26509782]"
HP:0020075,"""The presence of leuucine crystals in the urine."" [PMID:8671802]"
HP:0020076,"""A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule."" [PMID:17488856, PMID:19468907]"
HP:0020077,"""An elevated level of carnitine in the urine."" [PMID:11196742, UCDenver:tjcallahan]"
HP:0020078,"""An increased level of alanine in the urine."" [UCDenver:tjcallahan]"
HP:0020079,"""An increased level of beta-alanine in the urine."" []"
HP:0020080,"""Nuclear or cytoplasmic aggregates of substances in red blood cells."" []"
HP:0020081,"""A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain)."" [PMID:15054821, PMID:21250106]"
HP:0020082,"""A type of erythrocyte inclusion composed of denatured hemoglobin."" [PMID:21250106, PMID:24713708]"
HP:0020083,"""An infection of a hair follicle that extends subcutaneously, forming an abscess."" []"
HP:0020084,"""A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle."" [PMID:32119346]"
HP:0020085,"""An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens."" []"
HP:0020086,"""Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination."" [PMID:24722620]"
HP:0020087,"""Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis."" [PMID:21412596, PMID:24722620]"
HP:0020088,"""Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases."" [PMID:29152266]"
HP:0020089,"""Infection with the rubella virus of the live-attenuated vaccine."" []"
HP:0020090,"""Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise."" [PMID:25285130]"
HP:0020091,"""Infection with live attenuated rotavirus vaccine following vaccination."" [PMID:21477676]"
HP:0020093,"""Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ."" []"
HP:0020095,"""Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time."" []"
HP:0020096,"""Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections."" []"
HP:0020097,"""An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines."" [PMID:30515161]"
HP:0020099,"""An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals."" [PMID:25567225]"
HP:0020100,"""An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent."" []"
HP:0020101,"""Fungal infection characterized by invasion of host tissues."" [PMID:24718393]"
HP:0020102,"""An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing."" [PMID:26281787]"
HP:0020103,"""Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis."" [PMID:25656673]"
HP:0020104,"""An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent."" []"
HP:0020105,"""Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs)."" [PMID:25762774]"
HP:0020106,"""An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide."" [PMID:11148005, PMID:17042927]"
HP:0020107,"""An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth)."" [PMID:18382743]"
HP:0020108,"""An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite."" [PMID:16148530]"
HP:0020110,"""A partial or complete breakage of the continuity of a bone."" []"
HP:0020111,"""A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells."" [PMID:19751267]"
HP:0020112,"""An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells."" []"
HP:0020113,"""An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells."" []"
HP:0020114,"""Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease."" [PMID:24643184, PMID:26239127]"
HP:0020117,"""Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin."" [PMID:11851880, PMID:25487405]"
HP:0020118,"""Congenital absence of the radial artery."" [PMID:24650137]"
HP:0020119,"""A structural abnormality of the retinal nerve fiber layer"" []"
HP:0020120,"""Swelling (edema) of the retinal nerve fibers."" []"
HP:0020121,"""A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation."" [PMID:28844405]"
HP:0020122,"""Red blood cells that appear to have parts of them bitten away."" [ISBN:978-0-07174889-6]"
HP:0020123,"""A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear."" [PMID:27656306]"
HP:0020125,"""Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma."" [PMID:24768550, PMID:8749053]"
HP:0020126,"""A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction."" []"
HP:0020127,"""A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction."" []"
HP:0020128,"""Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell."" [ORCID:0000-0001-5208-3432, PMID:27863011]"
HP:0020129,"""Any deviation of the concentration of one or more proteins in the urine."" []"
HP:0020130,"""An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter)."" [PMID:18725016]"
HP:0020131,"""Abnormal structure of the basement membrane of the renal tubulus."" []"
HP:0020132,"""Increase in thickness of the basement membrane of the tubulus of the kidney."" [PMID:20142905]"
HP:0020133,"""Increased visceral epithelial cell size, with or without cytoplasmic protein droplets."" [PMID:15610239, PMID:32866505]"
HP:0020134,"""Abnormally increased count of neutrophils in urine."" [JGM:lccarmody]"
HP:0020135,"""A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance."" [NCIT:C3742, PMID:29364448]"
HP:0020136,"""The presence of circulating IgG autoantibodies to cardiolipin."" [PMID:30256771]"
HP:0020137,"""The presence of circulating IgM autoantibodies to cardiolipin."" [PMID:30256771]"
HP:0020138,"""Medical history of a recent bite injury due to an animal."" [PMID:26179017]"
HP:0020139,"""Medical history of a recent bite injury due to an insect."" [PMID:24364549]"
HP:0020140,"""Medical history of a recent bite injury due to a tick."" [PMID:24364549]"
HP:0020141,"""An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm."" [PMID:12101189]"
HP:0020142,"""An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm."" [PMID:28377475]"
HP:0020143,"""A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium."" [PMID:25313910]"
HP:0020144,"""The presence of calcium phosphate crystals in the urine."" [PMID:26509782, PMID:3599249, PMID:8671802]"
HP:0020145,"""The presence of calcium oxalate crystals in the urine."" [PMID:26509782, PMID:3599249, PMID:8671802]"
HP:0020146,"""The presence of calcium carbonate crystals in the urine."" [PMID:26509782, PMID:8671802]"
HP:0020147,"""Increased concentration of 2-methylbutyryl glycine in the urine."" [PMID:17883863, UCDenver:tjcallahan]"
HP:0020148,"""An abnormally elevated concentration od mead acid in the blood circulation."" [PMID:25440954]"
HP:0020149,"""An increase concentration of succinate in the blood circulation."" [PMID:29434314]"
HP:0020150,"""An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine."" [PMID:28781372]"
HP:0020151,"""The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA."" [PMID:15804704]"
HP:0020152,"""Lack of stability of a distal joint (e.g., finger)."" []"
HP:0020153,"""Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis."" [PMID:27475024]"
HP:0020154,"""A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones."" [PMID:23888253]"
HP:0020155,"""An abnormal structure of the female germ cell (egg cell)."" []"
HP:0020156,"""Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida."" [PMID:26329136]"
HP:0020157,"""Reduced thickness of the zona pellucida."" [PMID:7657763]"
HP:0020158,"""An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation."" [PMID:28456640, UCDenver:tjcallahan]"
HP:0020159,"""Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels."" [PMID:22723321]"
HP:0020160,"""Cellular accumulation of GM1 gangliosides."" [PMID:9063740]"
HP:0020161,"""Blockage of a branch of the retinal artery. This can cause loss of a section of visual field."" [PMID:19376586, UManchester:psergouniotis]"
HP:0020163,"""Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers."" [PMID:28058169, UManchester:psergouniotis]"
HP:0020164,"""A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs."" [PMID:30148234, UManchester:psergouniotis]"
HP:0020165,"""Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels."" [PMID:30570991, UManchester:psergouniotis]"
HP:0020166,"""Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis."" [PMID:30252241]"
HP:0020167,"""A variant of central retinal vein occlusions that involves the superior or inferior half of the retina."" [PMID:22069354, UManchester:psergouniotis]"
HP:0020169,"""An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy."" [ORCID:0000-0002-7440-8864, PMID:16948615]"
HP:0020170,"""High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime."" [ORCID:0000-0002-7440-8864, PMID:26075072]"
HP:0020171,"""Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime."" [ORCID:0000-0002-7440-8864, PMID:26075072]"
HP:0020172,"""An unpleasant or harmful reaction resulting from treatment with a drug."" [ORCID:0000-0002-7440-8864, PMID:11072960]"
HP:0020173,"""Decreased response to a drug intervention in comparison to the expected response."" [ORCID:0000-0002-7440-8864, PMID:26178435]"
HP:0020174,"""Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course."" [ORCID:0000-0002-7440-8864, PMID:29188449]"
HP:0020175,"""A decreased amount of cholinesterase in the blood circulation."" [PMID:29853783, UCDenver:tjcallahan]"
HP:0020176,Cholesterol crystalluria
HP:0020177,"""An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative."" []"
HP:0020178,"""A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative)."" [CL:0000451, PMID:15795906]"
HP:0020179,"""A deviation from the normal concentration of haptoglobin in the blood circulation."" [PMID:24809098]"
HP:0020180,"""An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation."" [PMID:24809098]"
HP:0020181,"""An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state."" [PMID:24809098]"
HP:0020182,"""A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure."" [PMID:28552863, RGD:SJWang]"
HP:0020183,"""A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure."" [PMID:28552863, RGD:SJWang]"
HP:0020184,"""A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure."" [PMID:28552863, RGD:SJWang]"
HP:0020185,"""Abnormal morphological development of the superior part of the cerebellum."" []"
HP:0020186,"""The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen."" [PMID:23710135]"
HP:0020187,"""Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age."" [PMID:28440899]"
HP:0020188,"""Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria."" [COST:neuromig, PMID:28440899]"
HP:0020189,"""Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria."" [COST:neuromig, PMID:28440899]"
HP:0020190,"""Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria."" [COST:neuromig, PMID:28440899]"
HP:0020191,"""Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes."" [COST:neuromig]"
HP:0020192,"""Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age."" [COST:neuromig, PMID:28440899]"
HP:0020193,"""An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds."" [PMID:23546720]"
HP:0020194,"""An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells."" [PMID:25125965]"
HP:0020195,"""An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells."" [PMID:22301495]"
HP:0020196,"""An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells."" [PMID:17403946]"
HP:0020197,"""An increased circulation of arachidonic acid in the blood circulation."" [PMID:30034875, UCDenver:tjcallahan]"
HP:0020198,"""Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation."" [PMID:2669615]"
HP:0020199,"""A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation."" []"
HP:0020200,"""An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation."" [PMID:22238407]"
HP:0020201,"""Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs."" []"
HP:0020202,"""Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached."" [PMID:22028589]"
HP:0020203,"""Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change."" [PMID:1180479, PMID:22028589]"
HP:0020204,"""Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains."" [KPMP:arosenberg]"
HP:0020205,"""Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains."" [KPMP:arosenberg]"
HP:0020206,"""The pinna has fewer folds and grooves than usual."" [PMID:15523657]"
HP:0020207,"""Seizures precipitated by exogenous stimuli."" [ORCID:0000-0002-1735-8178, PMID:11422340]"
HP:0020208,"""A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period."" [ORCID:0000-0002-1735-8178, PMID:11422340]"
HP:0020209,"""A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger."" [ORCID:0000-0002-1735-8178, PMID:11422340]"
HP:0020210,"""A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making."" [ORCID:0000-0002-1735-8178, PMID:11422340, PMID:24512781]"
HP:0020211,"""A seizure precipitated by movement or a change in posture."" [ORCID:0000-0002-1735-8178, PMID:11422340]"
HP:0020212,"""A seizure precipitated by reading."" [ORCID:0000-0002-1735-8178, PMID:11422340]"
HP:0020213,"""A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise."" [ORCID:0000-0002-1735-8178, PMID:11422340]"
HP:0020214,"""Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus."" [ORCID:0000-0002-1735-8178, PMID:11422340]"
HP:0020215,"""Seizures induced by thinking and decision-making.\ncomment:"" [ORCID:0000-0002-1735-8178, PMID:11422340]"
HP:0020216,"""Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect."" [ORCID:0000-0002-1735-8178, PMID:11422340]"
HP:0020217,"""A type of focal motor seizure in which awareness is retained throughout the seizure."" [ORCID:0000-0002-1735-8178, PMID:28276060, PMID:28276064]"
HP:0020218,"""A type of focal atonic seizure during which awareness is fully retained throughout."" [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0020219,"""A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement."" [ORCID:0000-0002-1735-8178, PMID:28276060]"
HP:0020220,"""A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature."" [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0020221,"""A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive."" [ORCID:0000-0002-1735-8178, PMID:11580774]"
HP:0020222,"""A decreased concentration of homocystine in the blood."" [PMID:29018201]"
HP:0020223,"""A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region."" [PMID:31484633]"
HP:0025004,"""Osteoarthritis of the metatarsophalangeal joint of the first toe."" [HPO:probinson, PMID:24649409]"
HP:0025005,"""Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself."" [HPO:probinson, PMID:6879730]"
HP:0025006,"""A structural anomaly of the capillary blood vessels in the renal glomerulus."" []"
HP:0025007,"""An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina."" []"
HP:0025008,"""Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree."" [UToronto:chum]"
HP:0025009,"""The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards."" []"
HP:0025010,"""Partial or complete loss of foveal tissue that was once present."" [HPO:probinson]"
HP:0025011,"""Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose."" [HPO:probinson]"
HP:0025012,"""Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations."" [HPO:probinson]"
HP:0025013,"""A type of rigidity that is manifested by an exaggerated extensor posture of all extremities."" [UToronto:chum]"
HP:0025014,"""Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray."" [PMID:20847697]"
HP:0025015,Abnormal vascular morphology
HP:0025016,"""A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues."" []"
HP:0025017,"""Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises)."" []"
HP:0025018,"""A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues."" []"
HP:0025019,"""Sudden breakage of an artery leading to leakage of blood from the circulation."" [HPO:probinson]"
HP:0025020,"""An increased concentration of prostate specific antigen (PSA) in the circulation."" [PMID:26366236]"
HP:0025021,"""A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling."" [PMID:10524488]"
HP:0025022,"""A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling."" [PMID:10524488]"
HP:0025023,"""A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum."" [HPO:probinson, PMID:20006038]"
HP:0025024,"""An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum."" [HPO:probinson, PMID:10869000]"
HP:0025025,"""A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening."" [HPO:probinson]"
HP:0025026,"""Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract."" [PMID:20223314]"
HP:0025027,"""The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin."" [HPO:probinson, PMID:21152797, PMID:26273166]"
HP:0025028,"""A structural anomaly of nerves of the enteric nervous system."" []"
HP:0025029,Abnormality of enteric neuron morphology
HP:0025030,"""Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons."" []"
HP:0025031,Abnormality of the digestive system
HP:0025032,"""A functional anomaly of the digestive system."" []"
HP:0025033,"""A structural anomaly of the digestive system."" []"
HP:0025034,"""Abnormal form of the progenitor cells committed to the erythroid lineage."" []"
HP:0025035,"""Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers."" []"
HP:0025037,"""Focal proliferation of glial cells in the hypothalamus."" [HPO:probinson, PMID:26530930]"
HP:0025038,"""A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins."" [PMID:11598263]"
HP:0025039,"""Swelling within the basal ganglia due to the accumulation of fluid."" []"
HP:0025040,"""Swelling within the thalamus due to the accumulation of fluid."" []"
HP:0025041,"""Calcium deposition in the thalamus."" []"
HP:0025042,"""A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery."" []"
HP:0025043,"""Increase in size of one or more mesenteric lymph nodes."" []"
HP:0025044,"""A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity."" [PMID:26366400]"
HP:0025045,"""A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)."" []"
HP:0025046,"""A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)."" []"
HP:0025047,"""A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)."" []"
HP:0025048,"""An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)."" []"
HP:0025049,Abnormal brain creatine level by MRS
HP:0025050,"""An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)."" []"
HP:0025051,"""A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)."" [PMID:12557293, PMID:15625559]"
HP:0025052,"""A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)."" []"
HP:0025053,"""An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)."" []"
HP:0025057,"""A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell."" []"
HP:0025058,"""Partial or complete wasting (loss) of hypothalamus tissue that was once present."" []"
HP:0025059,"""A circumscribed area of pus or necrotic debris in the parenchyma of the spleen."" [PMID:21319348]"
HP:0025060,"""Multiple abscess lesions in the spleen."" []"
HP:0025061,"""Single (solitary) abscess in the spleen."" []"
HP:0025062,"""The practice of eating earth or soil-like substrates such as clay or chalk."" [PMID:23816735]"
HP:0025063,"""The anterior abdominal wall is sunken and presents a concave rather than a convex contour."" []"
HP:0025064,"""Bleeding in the thalamus."" []"
HP:0025065,"""A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters."" []"
HP:0025066,"""A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)."" []"
HP:0025068,"""Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort."" [ORCID:0000-0003-0986-4123]"
HP:0025069,"""Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing."" []"
HP:0025070,"""An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3."" [PMID:22665396]"
HP:0025071,"""Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves."" []"
HP:0025072,"""Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave."" []"
HP:0025073,"""U wave inversion that is induced by exercise stress testing."" [PMID:22665396]"
HP:0025074,"""An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram."" []"
HP:0025075,"""Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm)."" []"
HP:0025076,"""Abnormal amplitude of the QRS complex of the electrocardiogram (EKG)."" []"
HP:0025077,"""Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm."" []"
HP:0025078,"""The QRS complexes of the electrocardiogram alternate in height."" [PMID:8222799]"
HP:0025079,"""A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas."" []"
HP:0025080,"""A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei."" []"
HP:0025081,"""A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP."" [PMID:24701633]"
HP:0025082,"""Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils."" [PMID:12082143, PMID:21738362]"
HP:0025083,"""An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin."" [PMID:2307214]"
HP:0025084,"""Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule."" []"
HP:0025085,"""Passage of many stools containing blood."" []"
HP:0025086,"""Passage of many stools containing blood and mucus."" []"
HP:0025087,"""Area of skin requiring an increased amount of time to return to its original shape after being stretched."" []"
HP:0025088,"""Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth."" [PMID:24882996, PMID:25473242, PMID:28207011]"
HP:0025089,"""Vomiting of material that is of fecal origin."" []"
HP:0025090,"""A structural anomaly of the mucous lining of the large intestine."" []"
HP:0025092,"""Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)."" []"
HP:0025093,"""A retinal exudate in the area surrounding the optic nerve head."" []"
HP:0025094,"""A subretinal scar with a disc-like shape in the region of the macula."" []"
HP:0025095,"""A sudden violent, spasmodic, audible expiration of breath through the nose and mouth."" []"
HP:0025096,"""Unprovoked explosive pathological sneezing."" [PMID:17388999]"
HP:0025097,"""Marked, involuntary jerking of the eyelids."" []"
HP:0025098,"""Structural abnormality of the hypothalamus related to defective development."" []"
HP:0025099,"""Structural abnormality of the thalamus related to defective development."" []"
HP:0025100,"""Any structural anomaly of the hippocampus,"" []"
HP:0025101,"""Structural abnormality of the hippocampus related to defective development."" []"
HP:0025102,"""Structural abnormality of the basal ganglia related to defective development."" []"
HP:0025103,"""A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated)."" [PMID:24050295]"
HP:0025104,"""A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules)."" [PMID:22483320, PMID:25864701]"
HP:0025105,"""A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots."" [PMID:22483320, PMID:25864701]"
HP:0025106,"""A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life."" [PMID:22483320, PMID:25864701]"
HP:0025107,"""A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible."" [PMID:22483320, PMID:25864701]"
HP:0025108,"""Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis."" [PMID:25864701]"
HP:0025109,"""Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate."" [PMID:7949104]"
HP:0025110,"""Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula."" []"
HP:0025112,"""Decreased tolerance to sound."" []"
HP:0025113,"""An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound."" []"
HP:0025114,"""Hypergranulosis is an increased thickness of the stratum granulosum."" []"
HP:0025115,"""Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant"" [PMID:23919028]"
HP:0025116,"""An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile."" []"
HP:0025117,"""Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance."" [PMID:20548894]"
HP:0025118,"""Lightening or darkening of the lips from their usual coloring."" []"
HP:0025119,"""An alteration of the color of the lip to take on a violet color. This term does not include cyanosis."" [PMID:24346922]"
HP:0025122,"""A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis."" [PMID:19061615]"
HP:0025123,"""Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks."" []"
HP:0025124,"""A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma."" []"
HP:0025125,"""White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white."" []"
HP:0025126,"""A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance."" []"
HP:0025127,"""A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color."" []"
HP:0025128,"""An abnormally reduced amount of adipose tissue in the abdominal cavity."" []"
HP:0025129,"""A structural anomaly of the mucous lining of the small intestine."" []"
HP:0025130,"""Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges."" []"
HP:0025131,"""Enlargement of the soft tissues of one or more fingers."" [PMID:16269085, PMID:19946526, PMID:24758199, PMID:9715244]"
HP:0025132,"""A deviation from normal concentration of the hormone estrogen in the blood circulation."" []"
HP:0025133,"""A deviation from normal concentrations of estradiol in the circulation."" []"
HP:0025134,"""An elevation above normal limits of the concentration of estradiol in the circulation."" []"
HP:0025135,"""A deviation from normal concentration of estriol in the circulation."" []"
HP:0025136,"""An elevation above normal limits of estriol concentration in the circulation."" []"
HP:0025137,"""A reduction below normal limits of estriol in the circulation."" []"
HP:0025138,"""A deviation from the normal concentration of circulating estrone."" []"
HP:0025139,"""An elevation above normal limits of the concentration of estrone in the circulation."" []"
HP:0025140,"""A reduction below normal limits of the concentration of estrone in the circulation."" []"
HP:0025141,"""Ectopic deposition of calcium salts found in the gingiva."" [PMID:25928877]"
HP:0025142,"""A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual."" []"
HP:0025143,"""A sudden sensation of feeling cold."" []"
HP:0025144,"""Involuntary contraction or twitching of the muscles."" []"
HP:0025145,"""Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever."" []"
HP:0025146,"""Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina."" []"
HP:0025147,"""A shiny appearance of the macula, which is often called a beaten bronze appearance."" []"
HP:0025148,"""A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid)."" [PMID:27739528, PMID:7248243]"
HP:0025149,"""Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis."" [PMID:18329691]"
HP:0025150,"""Sparse and small myenteric ganglia"" []"
HP:0025151,"""Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers."" [PMID:26361414]"
HP:0025152,"""Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones."" []"
HP:0025153,"""Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration."" []"
HP:0025154,"""Presence of biliary veins that serve as a collateral channel to the systemic circulation"" []"
HP:0025155,"""A functional anomaly of the hepatobiliary system"" []"
HP:0025156,"""Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status."" [PMID:16770168]"
HP:0025157,"""An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group."" []"
HP:0025158,"""Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging."" []"
HP:0025159,"""Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging."" []"
HP:0025160,"""A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual."" []"
HP:0025161,"""Temper tantrums that occur more frequently than usual."" []"
HP:0025162,"""Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes."" []"
HP:0025163,"""A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves."" []"
HP:0025164,"""An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods."" [PMID:25072684]"
HP:0025165,"""Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis)."" [PMID:25072684]"
HP:0025166,"""An increase of the diameter of elastic fibers in the dermis."" []"
HP:0025167,"""Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers."" []"
HP:0025168,"""Abnormal function of the left ventricule during left ventricular relaxation and filling."" [PMID:12527689, PMID:14594874]"
HP:0025169,"""Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent."" []"
HP:0025170,"""A central nervous system neoplasm with neuronal and, less consistently, glial differentiation."" []"
HP:0025171,"""A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy."" [PMID:27179225]"
HP:0025172,"""Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa."" []"
HP:0025173,"""Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa."" []"
HP:0025174,"""Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture."" []"
HP:0025175,"""Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care."" [PMID:18195376]"
HP:0025176,"""A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance."" []"
HP:0025177,"""Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography."" []"
HP:0025178,"""Increase in thickness of the subpleural interstitium."" []"
HP:0025179,"""On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which\nmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured."" [PMID:18195376, PMID:23247773]"
HP:0025180,"""A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules."" []"
HP:0025181,"""An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently."" [PMID:22526827]"
HP:0025182,"""A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region."" []"
HP:0025186,"""Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing."" [PMID:23345532, PMID:25754805]"
HP:0025188,"""Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion."" []"
HP:0025190,"""A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure."" [PMID:20196795, PMID:28276060, PMID:28276064, PMID:6790275]"
HP:0025192,"""Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum)."" []"
HP:0025193,"""A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity."" []"
HP:0025194,"""An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity."" []"
HP:0025195,"""A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present."" []"
HP:0025196,"""An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity."" [PMID:3542299]"
HP:0025197,"""A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration."" [NCIT:C3456, PMID:27684985]"
HP:0025198,"""A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp."" []"
HP:0025200,"""Accumulation in muscle cells of filaments composed of actin."" []"
HP:0025201,"""A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation."" []"
HP:0025202,"""An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II."" []"
HP:0025203,"""Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins."" [PMID:26112857]"
HP:0025204,"""A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation."" []"
HP:0025205,"""Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant."" []"
HP:0025206,"""Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings."" []"
HP:0025207,"""Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water."" []"
HP:0025208,"""Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates."" []"
HP:0025209,"""Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose."" []"
HP:0025210,"""Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose."" []"
HP:0025211,"""Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol."" []"
HP:0025212,"""Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting)."" []"
HP:0025213,"""Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose."" []"
HP:0025214,"""Applies to a sign or symptom that is provoked or brought about by exposure to heat."" []"
HP:0025215,"""Applies to a sign or symptom that is provoked or brought about by febrile illness."" []"
HP:0025216,"""Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal."" []"
HP:0025217,"""Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids."" []"
HP:0025218,"""Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing."" []"
HP:0025219,"""Applies to a sign or symptom that is provoked or brought about by a vaccination."" [PMID:26633955]"
HP:0025220,"""Applies to a sign or symptom that is provoked or brought about by menstruation in a female."" []"
HP:0025221,"""Applies to a sign or symptom that is provoked or brought about by pregnancy in a female."" []"
HP:0025222,"""Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep."" []"
HP:0025223,"""Applies to a sign or symptom that is provoked or brought about by smoking."" []"
HP:0025224,"""Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium."" []"
HP:0025225,"""Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise."" []"
HP:0025226,"""Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension."" []"
HP:0025227,"""Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled."" []"
HP:0025228,"""Applies to a sign or symptom that is provoked or brought about by a sudden movement."" []"
HP:0025229,"""Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair."" []"
HP:0025230,"""Inflammation of a tendon."" []"
HP:0025231,"""A structural anomaly of a synovial bursa."" []"
HP:0025232,"""Inflammation of a synovial bursa."" []"
HP:0025233,"""An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes."" [PMID:21571556]"
HP:0025234,"""An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep."" [PMID:27647645]"
HP:0025235,"""A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep)."" [PMID:27647645]"
HP:0025236,"""Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated."" [PMID:27647645]"
HP:0025237,"""A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours."" [PMID:27647645]"
HP:0025238,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot."" []"
HP:0025239,"""A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area."" [PMID:27090882]"
HP:0025240,"""An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation."" [UManchester:psergouniotis]"
HP:0025241,"""A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells)."" []"
HP:0025242,"""Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location."" []"
HP:0025243,"""Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium."" []"
HP:0025244,"""An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane."" []"
HP:0025245,"""A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material."" []"
HP:0025246,"""Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous."" []"
HP:0025247,"""A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are\nslowly progressive and can grow to a size of 1 to 4 cm."" []"
HP:0025248,"""A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge."" []"
HP:0025249,"""A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle)."" []"
HP:0025250,"""A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead."" []"
HP:0025251,"""A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black."" []"
HP:0025252,"""An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map."" [PMID:32119353]"
HP:0025253,"""An abnormal fear of being in a closed or narrow space with no escape."" []"
HP:0025254,"""An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable"" []"
HP:0025255,"""Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female."" []"
HP:0025256,"""Applies to a sign or symptom that is improved or made more bearable by heat (including fever)."" []"
HP:0025257,"""Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar)."" []"
HP:0025258,"""A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side."" []"
HP:0025259,"""A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity."" []"
HP:0025260,"""A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity."" []"
HP:0025261,"""A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity."" []"
HP:0025262,"""A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity."" []"
HP:0025263,"""A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity."" []"
HP:0025264,"""A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity."" []"
HP:0025265,"""A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity."" []"
HP:0025267,"""Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping."" []"
HP:0025268,"""Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds."" []"
HP:0025269,"""A sudden episode of intense fear in a situation in which there is no danger or apparent cause."" [PMID:28613692]"
HP:0025270,"""Any physiological abnormality of the esophagus."" []"
HP:0025271,"""Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful."" []"
HP:0025272,"""Symmetrical, blotchy, brownish facial pigmentation."" []"
HP:0025273,"""Inflammation of the Achilles tendon."" []"
HP:0025274,"""An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others."" []"
HP:0025275,"""Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure."" []"
HP:0025276,"""Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands."" []"
HP:0025277,"""Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating)."" [PMID:22798976]"
HP:0025278,"""Sweating provoked by cold temperature rather than by heat."" []"
HP:0025279,Migratory
HP:0025280,"""A pain characteristic is defined as a subjective category or type of pain."" []"
HP:0025281,"""Applied to pain that is described as sharp, i.e., sudden and severe."" []"
HP:0025282,"""Applied to pain that is dull, i.e., not severe but that continues over a long period of time."" []"
HP:0025283,"""Applied to pain that is tender, i.e., elicited by touching the affected body part."" []"
HP:0025284,"""Applied to pain that wakes the affecting individual from sleep."" []"
HP:0025285,"""An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe."" []"
HP:0025286,"""Applied to a sign or symptom that is aggravated by activity, exertion, or exercise."" []"
HP:0025287,"""Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs."" []"
HP:0025289,"""Enlarged lymph nodes in the neck."" []"
HP:0025290,"""Applies to an abnormality that affects the arms, trunk, head more than the legs."" []"
HP:0025291,"""Applies to an abnormality that affects the legs more than the arms, trunk, head."" []"
HP:0025292,"""Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose)."" []"
HP:0025293,"""Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body."" [PMID:17061271]"
HP:0025294,"""Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution."" [PMID:19772560]"
HP:0025295,"""Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections."" []"
HP:0025296,"""Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent."" []"
HP:0025297,"""Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection)."" []"
HP:0025300,"""An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose."" []"
HP:0025301,"""Applies to an abnormality that occurs in or is exacerbated during the night."" []"
HP:0025302,"""Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time."" []"
HP:0025303,"""Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present."" []"
HP:0025304,"""Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length."" []"
HP:0025305,"""Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours)."" []"
HP:0025306,"""Acute appearance of disease manifestations in a period of minutes."" []"
HP:0025307,"""Acute appearance of disease manifestations in a period of hours."" []"
HP:0025308,"""Acute appearance of disease manifestations in a period of days."" []"
HP:0025309,"""A deviation from the normal circular shape of the pupil"" []"
HP:0025310,"""An abnormal pupil shape that is elliptical, i.e., egg-like."" []"
HP:0025311,"""A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material."" []"
HP:0025312,"""A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters."" []"
HP:0025313,"""A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia."" []"
HP:0025314,"""A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia."" []"
HP:0025315,"""Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma."" []"
HP:0025317,"""A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body."" []"
HP:0025318,"""A malignant neoplasm originating from the surface ovarian epithelium."" []"
HP:0025319,"""Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification."" [PMID:27895936]"
HP:0025320,"""Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins."" []"
HP:0025321,"""An anomalous build up of copper (Cu) in the liver."" []"
HP:0025322,"""Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein."" []"
HP:0025323,"""An anomaly of arterial function."" []"
HP:0025324,"""Blockage of blood flow through an artery."" []"
HP:0025325,"""Decreased density/number and/or decreased diameter of medial eyebrow hairs."" []"
HP:0025326,"""Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina."" []"
HP:0025327,"""Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans."" [PMID:19254392, PMID:2117353]"
HP:0025328,"""Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby."" []"
HP:0025329,"""The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase."" [PMID:27356651]"
HP:0025330,"""A limitation of the ability to direct one's gaze below the horizontal meridian."" [PMID:8913186]"
HP:0025331,"""A limitation of the ability to direct one's gaze above the horizontal meridian."" []"
HP:0025332,"""An anomaly of the outer shell (cortex) of a foot bone."" []"
HP:0025333,"""A reduction in the thickness of the outer shell (cortex) of foot bones."" [PMID:24055421]"
HP:0025334,"""Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion)."" []"
HP:0025335,"""A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months."" [PMID:23321410, PMID:27354457]"
HP:0025336,"""A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age."" [PMID:23321410, PMID:27354457]"
HP:0025337,"""A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera."" []"
HP:0025338,"""A ring of redness at the limbus of the eye, the border between the cornea and the sclera."" []"
HP:0025339,"""Prominence of blood vessels of the superficial episcleral tissues."" []"
HP:0025340,"""Prominence of blood vessels of the deep episcleral tissues."" []"
HP:0025341,"""An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea."" []"
HP:0025342,"""Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss."" [PMID:23470793]"
HP:0025343,"""Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces."" [PMID:27331311]"
HP:0025344,"""Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts)."" [PMID:16177252]"
HP:0025345,"""A deviation from the normal concentration of beta-2-microglobulin in the blood."" [PMID:16166103]"
HP:0025346,"""Elevated concentration of beta-2-microglobulin in the blood."" []"
HP:0025347,"""Reduced concentration of beta-2-microglobulin in the blood."" []"
HP:0025348,"""An anomaly of the margin of the cornea overlapped by the sclera."" []"
HP:0025349,"""Swelling of the margin of the cornea overlapped by the sclera."" []"
HP:0025350,"""Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein."" [PMID:26278858]"
HP:0025351,"""A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers."" []"
HP:0025352,"""Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals."" [PMID:22805709]"
HP:0025353,"""A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells."" [PMID:11882049, PMID:12848948]"
HP:0025354,"""An anomaly of cellular morphology or physiology."" []"
HP:0025355,"""Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative."" []"
HP:0025357,"""A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous."" []"
HP:0025358,"""Presence of iris pigment epithelium on the anterior surface of the iris."" []"
HP:0025359,"""An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance)."" []"
HP:0025360,"""Increased number of calices of the kidney."" [PMID:19002724]"
HP:0025361,"""A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla."" []"
HP:0025362,"""Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla."" [PMID:16293636]"
HP:0025363,"""Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina."" [PMID:19571790, PMID:32866505]"
HP:0025364,"""Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells."" []"
HP:0025367,"""A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age."" []"
HP:0025368,"""A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone)."" []"
HP:0025369,"""Increased thickness (dimension along the axis of the bone) of the growth plate."" []"
HP:0025370,"""Abnormal bone tissue formation (ossification) affecting the sacrum."" []"
HP:0025371,"""Formation of the sacrum bone tissue occurs later than age-adjusted norms."" []"
HP:0025372,"""Particularly loud snoring, snoring at high volume."" [NCIT:C121601]"
HP:0025373,"""Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge."" [PMID:15961864, PMID:25012363]"
HP:0025374,"""The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates."" []"
HP:0025375,"""Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus."" []"
HP:0025376,"""An increased concentration of glutamine in the urine."" [PMID:11283793]"
HP:0025377,"""Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise."" []"
HP:0025379,"""The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase."" [ORCID:0000-0002-3387-1836, PMID:33144894, PMID:33796145]"
HP:0025380,"""Increased concentration of androstenedione in the blood circulation."" []"
HP:0025381,"""Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function."" [PMID:17341554]"
HP:0025382,"""Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake."" [PMID:25949488]"
HP:0025383,"""An area of fat accumulation at the back of the neck in the form of a hump."" [PMID:22301856]"
HP:0025384,"""Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery."" [PMID:22301856]"
HP:0025385,"""Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery."" []"
HP:0025386,"""Depression of profile in both temporal regions."" []"
HP:0025387,"""A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other."" []"
HP:0025388,"""A nodular lesion that develops in the thyroid gland. The term \""thyroid nodule\"" refers to any abnormal growth that forms a lump in the thyroid gland."" []"
HP:0025389,"""High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities."" [PMID:23247773]"
HP:0025390,"""On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh."" [PMID:23247773]"
HP:0025391,"""The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia."" [PMID:18195376, PMID:23247773]"
HP:0025392,"""A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter."" [PMID:23247773]"
HP:0025393,"""Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography."" [PMID:23247773]"
HP:0025394,"""On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema."" [PMID:23247773]"
HP:0025395,"""Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,"" [PMID:23247773]"
HP:0025396,"""Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography."" [PMID:23247773]"
HP:0025397,"""A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography."" [PMID:23247773]"
HP:0025398,"""A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution."" [PMID:23247773]"
HP:0025399,"""A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree."" [PMID:23247773]"
HP:0025400,"""A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern."" [PMID:23247773]"
HP:0025401,"""An abnormality in which the eyes are held permanently wide open."" [PMID:22675666]"
HP:0025402,"""Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion."" [PMID:6443573]"
HP:0025403,"""A habitual positioning of the body with the head and upper back bent forward."" []"
HP:0025404,"""Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location."" []"
HP:0025405,"""A deficit in the ability to fixate eye movements in order to stabilize images on the retina"" [PMID:28242738]"
HP:0025406,"""A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body."" []"
HP:0025407,"""An abnormal connection (fistula) between the rectum and the urethra."" []"
HP:0025408,"""Any anomaly of the structure of the spleen."" []"
HP:0025409,"""Any anomaly of the function of the spleen."" []"
HP:0025410,"""Joining of the spleen and a gonad during embryological development."" [PMID:24137272]"
HP:0025413,"""A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis."" [PMID:22022062]"
HP:0025414,"""A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa."" [PMID:22022062]"
HP:0025415,"""A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis."" []"
HP:0025416,"""A narrowing of the vagina owing to scar formation."" []"
HP:0025417,"""Urethra more open or expanded than normal."" []"
HP:0025418,"""Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct."" [PMID:26558184, PMID:27091021]"
HP:0025419,"""A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung."" [PMID:18195376]"
HP:0025420,"""A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen."" [PMID:23678356]"
HP:0025421,"""The presence of free air in the mediastinum."" [PMID:28217437]"
HP:0025422,"""A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance."" [PMID:12162234, PMID:18493546]"
HP:0025423,"""Any anomaly of the structure of the larynx."" []"
HP:0025424,"""Any anomaly of the function of the larynx."" []"
HP:0025425,"""A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe."" []"
HP:0025426,"""Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs."" []"
HP:0025427,"""Any anomaly of the function of the bronchi."" []"
HP:0025428,"""A spasm (sudden, involuntary constriction) of the bronchioles."" []"
HP:0025429,"""Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation."" []"
HP:0025430,"""A type of crying in an abnormally high-pitched voice."" []"
HP:0025431,"""A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations."" []"
HP:0025432,"""A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm."" []"
HP:0025433,"""Reduced level of the enzyme lecithin cholesterol acyl transferase."" [PMID:25172171]"
HP:0025434,"""A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum."" [PMID:20351687]"
HP:0025435,"""An elevated level of the enzyme lactate dehydrogenase in the blood circulation."" []"
HP:0025436,"""Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone."" []"
HP:0025437,"""Increased size of the head of sperm."" [PMID:16500351]"
HP:0025439,"""Inflammation (due to infection or irritation) of the pharynx."" []"
HP:0025440,"""Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C."" [PMID:15491963]"
HP:0025441,"""Ectopic deposition of calcium salts in the Achilles tendon."" []"
HP:0025443,"""An abnormality of the function of the cardiac atria."" []"
HP:0025444,"""A decrease in the volume (size) of the amygdyla."" []"
HP:0025445,"""Any structural anomaly of the papillary muscles of the left ventricle."" [PMID:9034636]"
HP:0025446,"""A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet."" [PMID:1884449]"
HP:0025447,"""Abnormal location of the insertion of a papillary muscle into the left ventricular wall."" []"
HP:0025448,"""Abnormally anterior location of the papillary muscles of the left ventricle."" [PMID:7850958]"
HP:0025449,"""Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,"" []"
HP:0025451,"""Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm."" [PMID:19956703]"
HP:0025452,"""A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer."" [PMID:16858047]"
HP:0025453,"""Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development."" [PMID:10414639]"
HP:0025454,"""Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid."" []"
HP:0025455,"""5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal."" [ORCID:0000-0003-0169-8159, PMID:27388694]"
HP:0025456,"""Any deviation from the normal range of a protein concentration in the cerebrospinal fluid."" []"
HP:0025457,"""CSF total protein level is below the lower limit of normal."" [ORCID:0000-0003-0169-8159, PMID:27388694]"
HP:0025458,"""CSF albumin level is below the lower limit of normal."" [ORCID:0000-0003-0169-8159, PMID:27388694]"
HP:0025459,"""An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration."" []"
HP:0025460,"""An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS)."" [ORCID:0000-0003-0169-8159, PMID:20951217]"
HP:0025461,"""Any anomaly of cell structure."" []"
HP:0025463,"""An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions."" []"
HP:0025464,"""An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage."" [PMID:26950655]"
HP:0025465,"""A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood."" []"
HP:0025466,"""Increased level of beta 2-microglobulins in the urine."" []"
HP:0025469,"""An abnormal loss of anagen (growth phase) hairs."" [PMID:28332382]"
HP:0025470,"""A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles."" []"
HP:0025471,"""A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation."" [PMID:26822169]"
HP:0025472,"""A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching."" []"
HP:0025473,"""A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin."" []"
HP:0025474,"""A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation."" []"
HP:0025475,"""A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation."" []"
HP:0025476,"""Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm."" []"
HP:0025477,"""Calcified deposits in soft tissue structures outside a joint."" []"
HP:0025478,"""Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram."" [PMID:23074623]"
HP:0025479,"""Neglecting one's own needs and well-being."" [PMID:24369074]"
HP:0025480,"""A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft."" []"
HP:0025481,"""Absence of one half of the vertebral body in the cervical spine."" []"
HP:0025482,"""An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid."" [PMID:25394566]"
HP:0025483,"""A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones."" []"
HP:0025484,"""An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones."" []"
HP:0025485,"""Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life."" [PMID:9764164]"
HP:0025486,"""The outer labia are sealed together."" []"
HP:0025487,"""Any structural anomaly of the bladder."" []"
HP:0025488,"""A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation."" [PMID:26904418]"
HP:0025489,"""A congenital anomaly characterized by the presence of two bladders."" [PMID:25657554]"
HP:0025490,"""A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course."" [PMID:25999138]"
HP:0025491,"""Narrowing of a vein due to intimal hyperplasia and fibrosis."" []"
HP:0025492,"""A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs."" [PMID:25772937]"
HP:0025493,"""Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin."" []"
HP:0025494,"""Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans"" [PMID:25017251]"
HP:0025495,"""Significant luminal narrowing of a long segment of the descending aorta."" [PMID:12368748, PMID:24516866]"
HP:0025496,"""Any anomaly of the function of a coronary artery."" []"
HP:0025497,"""A brief and sudden narrowing of a coronary artery."" [PMID:19433770]"
HP:0025498,"""Absence of ceruloplasmin in the blood."" []"
HP:0025499,"""Obesity with a body mass index of 30 to 34.9 kg per square meter."" []"
HP:0025500,"""Obesity with a body mass index of 35 to 39.9 kg per square meter."" []"
HP:0025501,"""Obesity with a body mass index of 40 kg per square meter or higher."" []"
HP:0025502,"""Increased body weight with a body mass index of 25-29.9 kg per square meter."" []"
HP:0025503,"""Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva."" [PMID:27358682, PMID:28374180]"
HP:0025505,"""The circumflex coronary artery originates from the right aortic sinus of Valsalva."" [PMID:25104986]"
HP:0025506,"""Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,"" [PMID:24424336]"
HP:0025507,"""A papule with yellow color."" []"
HP:0025508,"""Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints."" [PMID:28058540]"
HP:0025509,"""Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum."" []"
HP:0025510,"""A tan, regularly bordered patch with darker macules within the lesion."" []"
HP:0025511,"""A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood."" []"
HP:0025512,"""A papule with the same color as the surrounding skin."" [PMID:15686304]"
HP:0025513,"""Breakage of the sclera."" []"
HP:0025514,"""An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic."" []"
HP:0025515,"""Later than normal development of the breasts."" []"
HP:0025516,"""A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery."" [PMID:24605242]"
HP:0025517,"""Underdevelopment of the hippocampus."" []"
HP:0025518,"""An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion."" []"
HP:0025519,"""Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver."" [PMID:22110302]"
HP:0025520,"""Deposition of calcium in the skin."" []"
HP:0025521,"""The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males."" []"
HP:0025522,"""Abnormal increased in length of the chordae tendinae of the mitral valve."" []"
HP:0025523,"""A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve."" [PMID:23304176]"
HP:0025524,"""Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot."" []"
HP:0025525,"""Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips."" []"
HP:0025526,"""A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus."" []"
HP:0025527,"""A skin lesion with a snake- or serpent-like distribution."" []"
HP:0025528,"""A lesion of the skin with a ring-like distribution."" []"
HP:0025529,"""A nodule of the skin that exhibits an increased amount of pigmentation."" []"
HP:0025530,"""The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin."" []"
HP:0025531,"""The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body."" [PMID:21575077]"
HP:0025532,"""With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result."" []"
HP:0025533,Peau d'orange
HP:0025534,"""A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared."" []"
HP:0025535,"""Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back."" [PMID:11730311]"
HP:0025536,"""Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest."" [PMID:11730311]"
HP:0025537,"""An abnormal accumulation of fluid beneath the skin on sole of the foot."" []"
HP:0025538,"""An abnormal accumulation of fluid beneath the skin on the palm of the hand."" []"
HP:0025539,Abnormal B cell subset distribution
HP:0025540,"""Any abnormality in the proportion T cells subsets relative to the total number of T cells."" []"
HP:0025546,"""A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced."" []"
HP:0025547,"""A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced."" []"
HP:0025548,"""An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell)."" []"
HP:0025549,"""A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees."" [ORCID:0000-0003-0986-4123]"
HP:0025550,"""An increase above the normal concentration of ribitol in the blood."" []"
HP:0025551,"""Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp)."" []"
HP:0025552,"""Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding."" []"
HP:0025553,"""Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate."" [PMID:20411091]"
HP:0025554,"""A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion)."" [PMID:22223978]"
HP:0025555,"""Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails."" []"
HP:0025558,"""Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens."" [ORCID:0000-0003-0986-4123]"
HP:0025559,"""A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown."" [ORCID:0000-0003-0986-4123]"
HP:0025560,"""Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."" [ORCID:0000-0003-0986-4123, PMID:16196117]"
HP:0025561,"""Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."" [PMID:16196117]"
HP:0025562,"""Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."" [PMID:16196117]"
HP:0025563,"""Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."" [PMID:16196117]"
HP:0025564,"""Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."" [PMID:16196117]"
HP:0025565,"""Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."" []"
HP:0025566,"""Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."" [PMID:16196117]"
HP:0025567,"""An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months."" [PMID:17662099]"
HP:0025568,Abnormal morphology of the choroidal vasculature
HP:0025569,"""The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization."" [PMID:24653824]"
HP:0025570,"""Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA)."" [PMID:25709392]"
HP:0025571,"""A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree."" [PMID:27190856]"
HP:0025572,"""Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded."" [PMID:22848141]"
HP:0025573,"""A mild form of myopia with up to -3.00 diopters."" [ORCID:0000-0003-0986-4123]"
HP:0025574,"""Bleeding occurring within the macula lutea of the retina."" []"
HP:0025575,"""Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart."" [MP:0006064]"
HP:0025576,"""Any structural anomaly of the principal vein draining blood from the lower portion of the body."" [MP:0006063]"
HP:0025578,"""Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus."" [PMID:4015927]"
HP:0025579,"""Any structural abnormality of the left atrium."" []"
HP:0025580,"""Any structural abnormality of the right atrium."" []"
HP:0025581,"""Bleeding occurring within the fovea."" [ORCID:0000-0003-0986-4123]"
HP:0025582,"""Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation."" [ORCID:0000-0003-0986-4123, PMID:23202390]"
HP:0025583,"""Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals."" []"
HP:0025584,"""A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open."" [ORCID:0000-0003-0986-4123]"
HP:0025585,"""Tendency for the visual axis of one eye to be higher than that of the other."" [ORCID:0000-0003-0986-4123]"
HP:0025586,"""A type of strabismus characterized by permanent upward deviation of the visual axis of one eye."" [ORCID:0000-0003-0986-4123]"
HP:0025587,"""A type of strabismus in which the visual axis of one eye is higher than that of the other."" [ORCID:0000-0003-0986-4123]"
HP:0025588,"""A type of strabismus in which the visual axis of one eye is lower than that of the other."" [ORCID:0000-0003-0986-4123]"
HP:0025589,"""Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes."" [ORCID:0000-0003-0986-4123, PMID:15731772]"
HP:0025590,"""A functional anomaly of the muscles of the eye."" []"
HP:0025591,"""A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve."" [ORCID:0000-0003-0986-4123]"
HP:0025592,"""Decreased strength of the superior oblique muscle."" []"
HP:0025593,"""Mechanical limitation of the range of movement of the superior oblique muscle."" [ORCID:0000-0003-0986-4123]"
HP:0025594,"""An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye."" [ORCID:0000-0003-0986-4123, PMID:11545636]"
HP:0025595,"""Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy."" [ORCID:0000-0003-0986-4123]"
HP:0025596,"""A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve."" [ORCID:0000-0003-0986-4123]"
HP:0025597,"""Mechanical limitation of the range of movement of the inferior oblique muscle."" [ORCID:0000-0003-0986-4123]"
HP:0025598,"""Decreased strength of the inferior oblique muscle."" [ORCID:0000-0003-0986-4123]"
HP:0025599,"""A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye."" [ORCID:0000-0003-0986-4123, PMID:11545636]"
HP:0025600,"""A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye."" [ORCID:0000-0003-0986-4123]"
HP:0025601,"""Decreased strength of the inferior rectus muscle."" [ORCID:0000-0003-0986-4123]"
HP:0025602,"""Mechanical limitation of the range of movement of the inferior rectus muscle."" [ORCID:0000-0003-0986-4123]"
HP:0025603,"""A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe."" [ORCID:0000-0003-0986-4123]"
HP:0025604,"""A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit."" []"
HP:0025605,"""Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign."" [ORCID:0000-0003-0986-4123]"
HP:0025606,"""A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball."" [ORCID:0000-0003-0986-4123]"
HP:0025607,"""An inward turning (inversion) of the margin of the upper eyelid."" [ORCID:0000-0003-0986-4123]"
HP:0025608,"""An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring."" [ORCID:0000-0003-0986-4123]"
HP:0025609,"""A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles."" [ORCID:0000-0003-0986-4123]"
HP:0025610,"""A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia."" [ORCID:0000-0003-0986-4123]"
HP:0025611,"""A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye)."" [ORCID:0000-0003-0986-4123]"
HP:0025612,"""A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea."" [ORCID:0000-0003-0986-4123]"
HP:0025613,"""Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer."" [PMID:28276060, PMID:28276062, PMID:28276064]"
HP:0025615,Abscess
HP:0025616,"""An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms."" []"
HP:0025617,"""An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies."" []"
HP:0025618,"""An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies."" []"
HP:0025619,"""An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies."" []"
HP:0025620,"""An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype."" []"
HP:0025623,"""An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:22343568]"
HP:0025624,"""An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:22343568]"
HP:0025625,"""An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype."" []"
HP:0025626,"""An abnormally high concentration of oleic acid (oleate) in the blood circulation."" [PMID:18772370, UCDenver:tjcallahan]"
HP:0025627,"""An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid)."" []"
HP:0025628,"""An abnormally high concentration of myristoleate in the blood circulation."" []"
HP:0025629,"""The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG)."" [PMID:16969155]"
HP:0025630,"""Increased amount of argininosuccinate in the urine."" [PMID:30158522, UCDenver:tjcallahan]"
HP:0025631,"""Increased amount of alpha-aminobutyric acid in the urine."" [UCDenver:tjcallahan]"
HP:0025632,Reduced reactive oxygen species production in neutrophils
HP:0025633,"""A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder."" []"
HP:0025634,"""A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder."" []"
HP:0025635,"""A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk."" [NCIT:C4530]"
HP:0025636,"""Inflammation of the inner lining of the uterus (endometrium)."" [ORCID:0000-0002-8169-9049, PMID:29960704]"
HP:0025637,"""Narrowing of an artery due to constriction of the blood vessels."" [ORCID:0000-0002-8169-9049, PMID:20557770]"
HP:0025638,"""An increased level of N-butyrylglycine in the urine."" [UCDenver:tjcallahan]"
HP:0025639,"""An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection."" []"
HP:0025640,"""An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium."" []"
HP:0025641,"""An abnormally increased concentration of glycolate in the blood circulation."" [OHSU:jpgourdine, PMID:2002628]"
HP:0025643,"""A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine."" [PMID:26435653]"
HP:0025644,"""Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG)."" [ORCID:0000-0002-1735-8178, PMID:22925838, PMID:24099056]"
HP:0025646,"""Polymicrogyria that affects all or some of both cerebral hemispheres."" [ORCID:0000-0002-1735-8178]"
HP:0025647,"""A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy."" [ORCID:0000-0002-2234-4248, PMID:29910038]"
HP:0025648,"""A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period."" [ORCID:0000-0002-2234-4248, PMID:29910038]"
HP:0025649,"""A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period."" [ORCID:0000-0002-2234-4248, PMID:29910038]"
HP:0025650,"""A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy."" [ORCID:0000-0002-2234-4248, PMID:29910038]"
HP:0025652,"""Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta."" [PMID:30210239]"
HP:0025653,"""Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs."" [PMID:30210239]"
HP:0025654,"""Abnormally firm adherence of the placenta to the uterine wall."" [PMID:15145367]"
HP:0025655,"""Abnormal placental pentration into but not beyond the uterine wall."" []"
HP:0025656,"""Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign."" [PMID:31167209]"
HP:0025657,Abnormal umbilical blood flow measurement
HP:0025659,"""A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood."" [PMID:20460152, PMID:31536231]"
HP:0025660,"""A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele."" [PMID:28613730, PMID:32706613]"
HP:0025661,"""A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele."" [PMID:28613730]"
HP:0025662,"""An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes."" []"
HP:0025663,"""This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors."" [PMID:2406168, PMID:3292975]"
HP:0025664,"""Birth at 32 to 36 completed weeks of gestation."" [ORCID:0000-0002-6670-9157]"
HP:0025665,"""Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation)."" [ORCID:0000-0002-6670-9157]"
HP:0025666,"""Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks)."" [ORCID:0000-0002-6670-9157, PMID:27743648]"
HP:0025667,"""A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."" []"
HP:0025668,"""Any structural anomaly of the neck region."" []"
HP:0025669,"""Any functional anomaly of the neck region."" []"
HP:0025670,"""Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions."" [PMID:11827888]"
HP:0025671,"""An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms."" [PMID:16098320, PMID:33781717]"
HP:0025672,"""A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue."" [PMID:23696062]"
HP:0025673,"""A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection."" [PMID:14981382, PMID:28567101]"
HP:0025674,"""A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst."" [PMID:19293041]"
HP:0025675,"""A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery)."" [PMID:34304616]"
HP:0025676,"""Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops."" [PMID:18280793]"
HP:0025677,"""The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus."" [PMID:10472400, PMID:28351595]"
HP:0025678,"""Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed."" [PMID:25721226]"
HP:0025679,"""Inflammation of an intervertebral disc or disk space."" [PMID:31082091]"
HP:0025680,"""Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction."" [PMID:25192047]"
HP:0025681,"""Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region."" []"
HP:0025682,"""A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase."" [ORCID:0000-0002-6670-9157, PMID:26709688, PMID:28279852]"
HP:0025683,"""Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form."" [ORCID:0000-0003-2307-1226, PMID:27025652]"
HP:0025684,"""A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF)."" [ORCID:0000-0003-2307-1226, PMID:15992827, PMID:31391004]"
HP:0025685,"""An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF)."" [ORCID:0000-0003-2307-1226]"
HP:0025686,"""Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form."" [ORCID:0000-0003-2307-1226, PMID:29420472]"
HP:0025687,"""An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF)."" [ORCID:0000-0003-2307-1226, PMID:19273758]"
HP:0025688,"""Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid."" [ORCID:0000-0003-2307-1226, PMID:31391004]"
HP:0025689,"""Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth."" [PMID:33099808]"
HP:0025690,"""Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age."" [PMID:24883288, PMID:28876490]"
HP:0025691,"""Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG."" [ORCID:0000-0001-7505-5418, PMID:17327355, PMID:29763085]"
HP:0025692,"""A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops)."" [PMID:26260203]"
HP:0025693,"""A pituitary gland adenoma that is larger than 10mm."" [PMID:32119338]"
HP:0025694,"""A pituitary adenoma that is less than 10 mm in diameter."" [PMID:32119338]"
HP:0025695,"""Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection."" []"
HP:0025696,"""A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts."" [LMU:mgriese, PMID:34713989]"
HP:0025697,"""A type of airway casts that consist of plasma components and inflammatory cells."" [LMU:mgriese]"
HP:0025698,"""A type of airway casts that consist of impacted mucus."" [LMU:mgriese]"
HP:0025699,"""18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure."" [PMID:33452041]"
HP:0025700,"""A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm."" [PMID:34230606]"
HP:0025701,"""The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency."" [ORCID:0000-0002-7653-4653, PMID:19248150, PMID:20227670, PMID:23718767]"
HP:0025702,"""A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging."" [PMID:30027296, PMID:3111205]"
HP:0025703,"""A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other."" [PMID:30027296]"
HP:0025704,"""A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter."" [PMID:30027296]"
HP:0025705,"""Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age."" [PMID:16813740]"
HP:0025706,"""The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy."" [PMID:23324624, PMID:31679594]"
HP:0025707,"""Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques."" []"
HP:0025708,"""Onset of disease at an age of greater than or equal to 16 to under 19 years."" []"
HP:0025709,"""Onset of disease at an age of greater than or equal to 19 to under 25 years."" []"
HP:0025710,"""Onset of disease at an age of greater than or equal to 25 to under 40 years."" []"
HP:0025711,"""Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze."" [PMID:27169871]"
HP:0025712,"""Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis)."" [PMID:27683622]"
HP:0025713,"""Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins."" [ORCID:0000-0003-2307-1226, PMID:30899091]"
HP:0025714,"""An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions."" [ORCID:0000-0003-2307-1226, PMID:10867785]"
HP:0025715,"""Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester."" [PMID:12768548]"
HP:0025716,"""Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery."" [ORCID:0000-0002-8593-2186, PMID:30718211]"
HP:0025717,"""Abnormal accumulation of autophagosomes in skeletal muscle tissue."" [PMID:20040311]"
HP:0025718,"""An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation."" [PMID:32989482]"
HP:0025719,"""Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities."" [PMID:30129127]"
HP:0025720,"""Limited mobility of the eye to move from side to side (horizontally) within its socket."" [ORCID:0000-0002-3302-4610]"
HP:0025721,"""Limited mobility of the eye to move up and down (vertically) within its socket."" [ORCID:0000-0002-3302-4610]"
HP:0025722,"""A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors."" [PMID:10867785]"
HP:0025723,"""Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."" []"
HP:0025724,"""Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth."" [PMID:21856041]"
HP:0025725,"""A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst."" [PMID:27070354]"
HP:0025726,"""A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance)."" [PMID:27070354]"
HP:0025727,"""A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance."" [PMID:27070354]"
HP:0025728,"""Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns."" [PMID:12423480, PMID:32277778]"
HP:0025729,"""The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.)."" [PMID:27223167]"
HP:0025730,"""Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow."" [PMID:30601441]"
HP:0030000,"""Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz."" [UToronto:HTrang]"
HP:0030001,"""A condition in which the eyelids do not close to cover the eye completely."" [PMID:20590416]"
HP:0030002,"""The inability to close the eyelids during sleep."" [PMID:16671223]"
HP:0030003,"""A type of lagophthalmos that occurs in association with facial nerve palsy."" [PMID:24618488]"
HP:0030004,"""A type of lagophthalmos that occurs following trauma or surgery."" []"
HP:0030005,"""An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes."" [PMID:24467750, PMID:24808988]"
HP:0030006,"""Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers."" [HPO:probinson, PMID:21654930]"
HP:0030007,"""These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform."" [PMID:15961866]"
HP:0030008,"""Congenital absence of the cervix."" []"
HP:0030009,"""A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent"" [PMID:17490914, PMID:20643692]"
HP:0030010,"""Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina."" [PMID:24046799]"
HP:0030011,"""A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina."" [PMID:24822139]"
HP:0030012,Abnormal female reproductive system physiology
HP:0030014,"""A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity"" [PMID:26953829]"
HP:0030015,"""The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal."" [PMID:16391543]"
HP:0030016,"""Recurrent or persistent genital pain associated with sexual intercourse."" [PMID:16391543]"
HP:0030017,"""Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress."" [PMID:16391543]"
HP:0030018,"""Dminished sexual desire in female."" []"
HP:0030019,"""Elevated sexual desire in female"" []"
HP:0030021,"""Small protrusion within the pinna."" [eom:1b6d89bad30b8f18, PMID:19152421]"
HP:0030022,"""Cleft between the helix and the lobe."" [eom:cffbc3de49dbb172, PMID:19152421]"
HP:0030023,"""Small cartilaginous prominence on the posterior concha."" [eom:193d1645eb4eced8, PMID:19152421]"
HP:0030024,"""Variably shaped, cartilage-containing tissue anterior to the external auditory meatus."" [eom:095679c21044c851]"
HP:0030025,"""Small indentation in the lower part of the ascending helix, concha, or in the crus helix."" [eom:1fe5d46deac24493, PMID:19152421]"
HP:0030026,"""Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual."" [eom:ddce48fcd9ee46f4, PMID:19152421]"
HP:0030027,"""A morphological anomaly of the nasal cartilage."" []"
HP:0030028,"""Lack of a palpable nasal cartilage."" [eom:73e4e8bb2eec316d, PMID:19152422]"
HP:0030029,"""Divergence of digits along the A/P axis (in the plane of the palm)."" [eom:ebc67f029da3caac, PMID:19125433]"
HP:0030030,"""The absence of all phalanges of a digit and the associated metacarpal /metatarsal."" [eom:603438e0616f4f69, PMID:19125433]"
HP:0030031,"""Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual."" [eom:4d06c726e63758c5, PMID:19125433]"
HP:0030032,"""An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals."" [eom:6a2c173d3d7e3219, PMID:19125433]"
HP:0030033,"""Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual."" [eom:5b823be1388221a1, PMID:19125433]"
HP:0030034,"""Presence of abnormal additional layers of the basement membrane of the glomerulus."" [KPMP:arosenberg, PMID:10199473, PMID:12089752]"
HP:0030035,"""Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones)."" []"
HP:0030036,"""Inability of the kidneys to produce either concentrated or dilute urine."" []"
HP:0030037,"""Incomplete duplication of the ureter."" [PMID:23513084]"
HP:0030038,"""A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus."" []"
HP:0030039,"""A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another."" []"
HP:0030040,"""A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another."" []"
HP:0030041,"""A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra."" [PMID:22544358]"
HP:0030042,"""Failure to complete ossification (maturation and calcification) of the pubic bone."" []"
HP:0030043,"""A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket."" []"
HP:0030044,"""A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints."" []"
HP:0030045,"""Elongated curved (S-shaped) fibulae."" [PMID:21712856, PMID:3409932]"
HP:0030046,"""A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue."" [PMID:18691338]"
HP:0030047,"""A morphological anomaly of the lateral ventricle."" []"
HP:0030048,"""Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles."" [PMID:4058748]"
HP:0030049,"""A collection of pus, immune cells, and other material in the brain."" []"
HP:0030050,"""An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis."" [PMID:21931493]"
HP:0030051,"""An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait."" [PMID:24757457, PMID:26709689]"
HP:0030052,"""The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin."" []"
HP:0030053,"""An induration (hardening) of the skin"" []"
HP:0030054,"""Presence of excess fibrous connective tissue surrounding hair follicules."" []"
HP:0030055,"""When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity."" []"
HP:0030056,"""Hair that is disorderly, stands out from the scalp, and cannot be combed flat."" []"
HP:0030057,"""The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues."" []"
HP:0030058,"""An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains)."" []"
HP:0030059,"""An abnormal reduction in mitochondrial DNA content of cells."" [PMID:23385875]"
HP:0030060,"""A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system)."" []"
HP:0030061,"""A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells."" []"
HP:0030062,"""A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system."" [PMID:17425791]"
HP:0030063,"""A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium."" []"
HP:0030064,"""A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles."" []"
HP:0030065,"""A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation."" []"
HP:0030066,"""A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system."" []"
HP:0030067,"""A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone."" []"
HP:0030068,"""A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate."" []"
HP:0030069,"""A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS."" [PMID:23696924]"
HP:0030070,"""A primitive neuroectodermal neoplasm that occurs in the central nervous system."" []"
HP:0030071,"""A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal."" [PMID:17566306]"
HP:0030072,"""A tumor that originates in the paranasal sinus."" []"
HP:0030074,"""A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract."" []"
HP:0030075,"""Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer."" [PMID:24415964]"
HP:0030076,Lobular carcinoma in situ
HP:0030077,"""A tumor originating in a bronchus."" []"
HP:0030078,Lung adenocarcinoma
HP:0030079,"""A tumor of the uterine cervix."" []"
HP:0030080,"""A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass."" []"
HP:0030081,"""Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter."" []"
HP:0030082,"""Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption."" []"
HP:0030083,"""An excessive desire to eat salt (sodium chloride) or salty foods."" []"
HP:0030084,"""An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)."" [PMID:16252026]"
HP:0030085,"""Abnormal concentration of lactate in the cerebrospinal fluid."" [HPO:probinson]"
HP:0030086,"""Decreased concentration of lactate in the cerebrospinal fluid."" []"
HP:0030087,"""An anomalous concentration of testosterone in the blood."" []"
HP:0030088,"""An elevated circulating testosterone level in the blood."" []"
HP:0030089,"""An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue."" []"
HP:0030090,"""An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve."" [HPO:probinson, PMID:2185464]"
HP:0030091,"""Lack of merosin protein in the muscle biopsy."" []"
HP:0030092,"""A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue."" [HPO:Probinson]"
HP:0030093,"""A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1."" [HPO:probinson, PMID:9400354, UToronto:HTrang]"
HP:0030094,"""A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1."" []"
HP:0030095,"""A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle."" [UToronto:HTrang]"
HP:0030096,"""A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina."" [PMID:11917091, UToronto:HTrang]"
HP:0030097,"""Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy."" [PMID:11917091, UToronto:htrang]"
HP:0030098,"""A decreased amount of dystrophin in muscle fiber tissue."" [UToronto:htrang]"
HP:0030099,"""Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly."" [HPO:probinson, PMID:11592034, UToronto:htrang]"
HP:0030100,"""Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines."" [HPO:probinson, PMID:24843229, UToronto:htrang]"
HP:0030101,"""Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy."" [UToronto:htrang]"
HP:0030102,"""A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy."" [UToronto:htrang]"
HP:0030103,"""Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines."" [HPO:probinson, PMID:24843229, UToronto:htrang]"
HP:0030104,"""Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines."" [HPO:probinson, PMID:24843229, UToronto:htrang]"
HP:0030105,"""Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines."" [HPO:probinson, PMID:24843229, UToronto:htrang]"
HP:0030106,"""Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy."" [UToronto:htrang]"
HP:0030107,"""Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy."" [UToronto:htrang]"
HP:0030108,"""Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy."" [UToronto:htrang]"
HP:0030109,"""Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy."" [UToronto:htrang]"
HP:0030110,"""Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy."" [PMID:26709803, UToronto:htrang]"
HP:0030111,"""Abnormally reduced amount of delta sarcoglycan in muscle."" [PMID:26709803]"
HP:0030112,"""A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly."" []"
HP:0030113,"""A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing."" [HPO:probinson, PMID:24843229]"
HP:0030114,"""Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy."" [UToronto:htrang]"
HP:0030115,"""Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy."" [UToronto:htrang]"
HP:0030116,"""A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue."" [HPO:probinson]"
HP:0030117,"""Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy."" [UToronto:htrang]"
HP:0030118,"""Immunohistochemistry reveals reduced emerin protein in the muscle biopsy."" [UToronto:htrang]"
HP:0030119,"""A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates."" [HPO:probinson, PMID:24843229]"
HP:0030120,"""Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue."" [UToronto:htrang]"
HP:0030121,"""Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue."" [UToronto:htrang]"
HP:0030122,"""Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2)."" [HPO:probinson, UToronto:htrang]"
HP:0030123,"""A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation."" [HPO:probinson, PMID:24843229]"
HP:0030124,"""A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue."" [HPO:probinson, UToronto:htrang]"
HP:0030125,"""A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both."" [UToronto:bgallinger]"
HP:0030126,"""An anomaly of the inner mucous membrane of the uterus."" [HPO:probinson]"
HP:0030127,"""The growth of endometrial tissue outside the uterus."" [HPO:probinson, PMID:25221341]"
HP:0030129,"""Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma."" [HPO:cmiller]"
HP:0030130,"""Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers."" [HPO:cmiller, PMID:18809794]"
HP:0030131,"""Deviation from the normal von Willebrand factor multimer pattern."" [HPO:cmiller]"
HP:0030132,"""Absence of large von Willebrand Factor multimers on gel electrophoresis."" [HPO:cmiller]"
HP:0030133,"""Detection of abnormal ultra-large von Willebrand factor multimers."" [HPO:cmiller, PMID:11756169, PMID:25983111]"
HP:0030134,"""Complete absence of all von Willebrand factor multimers."" [HPO:cmiller]"
HP:0030135,"""Lack of intermediate von Willebrand Factor multimers on gel electrophoresis."" [HPO:cmiller]"
HP:0030136,"""Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma."" [HPO:cmiller]"
HP:0030137,"""Bleeding that persists for a longer than usual time following circumcision."" []"
HP:0030138,"""An abnormally increased degree of bleeding following a superfical injury to the surface of the skin."" [HPO:cmiller]"
HP:0030139,"""An abnormal high amount of bleeding following the procedure of taking a blood sample."" [HPO:cmiller]"
HP:0030140,"""Recurrent or excessive bleeding from the mouth."" [HPO:cmiller]"
HP:0030141,"""An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair."" [HPO:probinson]"
HP:0030142,"""An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis."" []"
HP:0030143,"""Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines."" [HPO:probinson, PMID:22767621]"
HP:0030144,"""An decreased amount of bowel sounds."" [HPO:probinson]"
HP:0030145,"""Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope."" [HPO:probinson]"
HP:0030146,"""A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells."" [HPO:probinson, PMID:11157536]"
HP:0030147,"""Tremor of the trunk in an anterior-posterior plane at 3-4 Hz."" [HPO:probinson]"
HP:0030148,"""An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart."" [HPO:probinson]"
HP:0030149,"""Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume."" [PMID:24188221]"
HP:0030150,"""An abnormally increased number of plasma cells in tissues, exudates, or blood"" []"
HP:0030151,"""Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both."" [HPO:probinson, PMID:21994886]"
HP:0030153,"""Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension."" [HPO:probinson, PMID:18536057, PMID:8268770]"
HP:0030154,"""Rupture of the wall of the gallbladder."" [HPO:probinson, PMID:22210542]"
HP:0030155,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum."" []"
HP:0030156,"""The presence of free monoclonal immunoglobulin light chains in the urine."" [HPO:probinson, PMID:7876381]"
HP:0030157,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank."" []"
HP:0030158,"""Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu"" [HPO:probinson, PMID:21270291, PMID:28460993]"
HP:0030159,"""Abnormal growth of tissue projecting from a mucous membrane of the endocervix."" [HPO:probinson, PMID:21270291]"
HP:0030160,"""Inflammation of the uterine cervix."" [HPO:probinson, PMID:21270291]"
HP:0030161,"""A sensation of itching in the vagina."" []"
HP:0030162,"""Abnormally large size of glomeruli."" [HPO:probinson, PMID:21115671, PMID:9402101]"
HP:0030163,"""Abnormality of vascular function."" [HPO:probinson]"
HP:0030164,"""Pain in the jaw or ear induced by chewing or otherwise moving the jaw."" [HPO:probinson, PMID:12972467]"
HP:0030165,"""The presence of an increased number of twists and turns of the temporal artery."" [HPO:probinson]"
HP:0030166,"""Occurrence of excessive sweating during sleep."" [HPO:probinson, PMID:23136329]"
HP:0030167,"""The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria."" [HPO:probinson]"
HP:0030168,"""Increase in diameter of the veins located underneath the skin of the abdomen."" [PMID:5897968]"
HP:0030169,"""Extreme dilation of the submucusoal veins in the stomach."" [HPO:probinson, PMID:24891929]"
HP:0030170,"""Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue."" [HPO:probinson, PMID:24394852]"
HP:0030171,"""A collection of clotted blood surrounding the kidney."" [HPO:probinson, PMID:17963347, PMID:3360039]"
HP:0030172,"""Congenital absence of the myelin sheath on a nerve."" [HPO:jbeats, PMID:22246888]"
HP:0030173,"""Increased amount of peripheral myelination."" [HPO:probinson]"
HP:0030174,"""Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion."" [HPO:jbeats]"
HP:0030175,"""The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage)."" [HPO:jbeats, PMID:10727485]"
HP:0030176,"""Loss of myelin from peripheral nerves in a pattern that differs between right and left."" [HPO:jbaets]"
HP:0030177,"""An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles."" []"
HP:0030178,Abnormality of central nervous system electrophysiology
HP:0030179,"""An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve."" []"
HP:0030180,"""Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe)."" [UKB:tklockgether]"
HP:0030181,"""Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe)."" [PMID:18637037, UKT:rschuele]"
HP:0030182,"""Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength."" []"
HP:0030183,"""The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR)."" [HPO:probinson, PMID:16954982]"
HP:0030185,"""An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist)."" [HPO:probinson, PMID:21404980]"
HP:0030186,"""Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor."" []"
HP:0030187,"""Nodding movement of the head or body."" [HPO:probinson, PMID:4821687]"
HP:0030188,"""Tremor classified by the affected body part."" [HPO:probinson]"
HP:0030190,"""Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior."" []"
HP:0030191,"""An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system."" []"
HP:0030192,"""A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."" [HPO:probinson, PMID:17986328, UNCL:mbertoli]"
HP:0030193,"""A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."" [PMID:17986328, UNCL:tevangelista]"
HP:0030194,"""A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."" [PMID:17986328, UNCL:hlochmueller]"
HP:0030195,"""A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."" [PMID:17986328, UK:rheller]"
HP:0030196,"""A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."" [UNCL:mbertoli]"
HP:0030197,"""A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."" []"
HP:0030198,"""A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."" [UK:rheller]"
HP:0030199,"""A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."" [UK:rheller]"
HP:0030200,"""A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."" [UK:rheller]"
HP:0030201,"""Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis."" [UK:rheller]"
HP:0030202,"""Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor."" [UK:rheller]"
HP:0030203,"""Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor."" [UK:rheller]"
HP:0030205,"""The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG)."" [PMID:21654930, UK:rheller]"
HP:0030206,"""A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation."" [PMID:23970984, UK:rheller]"
HP:0030207,"""Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing."" [HPO:tevangelista]"
HP:0030208,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury."" [UK:rheller]"
HP:0030209,"""The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels."" [PMID:7739683, UNCL:mbertoli]"
HP:0030210,"""The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab)."" [PMID:22770539, PMID:29321424, PMID:32830177, UNCL:hlochmueller]"
HP:0030211,"""Reduced velocity and acceleration in the pupillary light response."" [PMID:974056, UNCL:tevangelista]"
HP:0030212,"""Excessive or pathological tendency to save and collect possessions."" []"
HP:0030213,"""Lack of emotional reactivity and empathy for situations or persons, sometime also for family members."" [ICM:PCaroppo]"
HP:0030214,"""Pathological persistent sexual disinhibiting behavior, directed at oneself or to others."" [ICM:PCaroppo]"
HP:0030215,"""Uncontrolled episodes of crying, without apparent motivating stimuli."" [ICM:PCaroppo]"
HP:0030216,"""Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example)."" [ICM:PCaroppo]"
HP:0030217,"""Difficulty in performing the correct execution of limbs movements in absence of motor impairment."" [ICM:PCaroppo]"
HP:0030218,"""Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects."" [ICM:PCaroppo, PMID:15077237, PMID:25452726]"
HP:0030219,"""A progressive loss of the ability to remember the meaning of words, faces and objects."" [ICM:PCaroppo, PMID:24966676]"
HP:0030220,"""Behavior that is not in line with social norms."" [ICM:PCaroppo]"
HP:0030221,"""Excessive desire to eat sweet foods."" [ICM:PCaroppo]"
HP:0030222,"""Difficulty in recognizing objects by visual input in absence of sensorial visual impairment."" [ICM:PCaroppo]"
HP:0030223,"""Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact."" [HPO:probinson, PMID:9050113]"
HP:0030224,"""A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein."" [Neuromics:vstraub]"
HP:0030225,"""Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy."" [Neuromics:vstraub]"
HP:0030226,"""A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein."" [Neuromics:vstraub]"
HP:0030227,"""Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy."" [Neuromics:vstraub]"
HP:0030228,"""A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family."" [Neuromics:vstraub]"
HP:0030229,"""Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy."" [Neuromics:vstraub]"
HP:0030230,"""The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric."" [Neuromics:vstraub, PMID:17504518]"
HP:0030231,"""An increased amount of glycogen in muscle tissue found specifically in lysosomes."" [Neuromics:vstraub]"
HP:0030232,"""Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers."" [HPO:probinson]"
HP:0030233,"""Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures."" [Neuromics:vstraub]"
HP:0030234,"""An increased CPK level between 4X and 50X above the upper normal level."" [Neuromics:vstraub]"
HP:0030235,"""An increased creatine kinase level more than 50X above the upper normal level."" [https://orcid.org/0000-0001-7941-2961, Neuromics:vstraub]"
HP:0030236,"""Abnormalities of the overall muscle bulk based on clinical observation."" [Neuromics:vstraub]"
HP:0030237,"""Reduced strength of the musculature of the hand."" [HPO:probinson]"
HP:0030239,"""Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis."" [HPO:probinson]"
HP:0030241,"""Underdevelopment of the deltoid muscle."" [Neuromics:vstraub]"
HP:0030242,"""Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins."" [HPO:probinson, PMID:21960890]"
HP:0030243,"""An obstruction in the veins of the liver caused by a blood clot (thrombosis)."" [HPO:probinson]"
HP:0030244,"""The occurence of an elevated body temperature of the mother during pregnancy."" [HPO:probinson, PMID:24567014]"
HP:0030245,"""The occurence of maternal fever during labor."" [HPO:probinson, PMID:11430951, PMID:8135133]"
HP:0030246,"""The occurence of fever in a mother during the first trimester of pregnancy."" [HPO:probinson, PMID:24917213]"
HP:0030247,"""The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity)."" [HPO:probinson, PMID:20532730]"
HP:0030248,"""A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine)."" []"
HP:0030249,"""A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx."" [HPO:probinson]"
HP:0030250,"""The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung."" []"
HP:0030251,"""Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin."" [HPO:probinson]"
HP:0030252,"""Complete lack of mature B cells, that is, of B cells that have left the bone marrow."" [HPO:probinson]"
HP:0030253,"""A reduced ability of a T cell population to expand by cell division following T cell activation."" [HPO:probinson]"
HP:0030254,"""Small areas of bleeding (hemorrhage) under the fingernail or toenail."" [HPO:probinson]"
HP:0030255,"""The presence of multiple polyps in the large intestine."" [HPO:probinson]"
HP:0030256,"""The presence of multiple polyps in the small intestine."" [HPO:probinson]"
HP:0030257,"""One or more brown punctate macules on the skin of the genitalia."" [HPO:probinson, PMID:23650202]"
HP:0030258,"""Localized or generalized increased genital pigmentation."" []"
HP:0030259,"""Localized or generalized decreased genital pigmentation."" [HPO:probinson, PMID:23650202]"
HP:0030260,"""Length of penis more than 2 SD below the mean for age accompanied by hypospadias."" [HPO:probinson, PMID:23650202]"
HP:0030261,"""Lack of recognizable penile structures."" [HPO:probinson, PMID:23650202]"
HP:0030262,"""Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age."" [HPO:probinson, PMID:23650202]"
HP:0030263,"""Rotated position of the glans, with or without the penile shaft, of 30 degrees or more."" [HPO:probinson, PMID:23650202]"
HP:0030264,"""Ventral skinfold extending from penis to scrotum."" [PMID:23650202]"
HP:0030265,"""Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age."" [PMID:23650202]"
HP:0030267,"""Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna."" [HPO:probinson]"
HP:0030268,"""Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing."" [HPO:probinson, PMID:12913845, PMID:17451374]"
HP:0030269,"""An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation."" [HPO:probinson, PMID:18436706]"
HP:0030270,"""Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine."" [HPO:probinson, PMID:3348976]"
HP:0030271,"""This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation."" [HPO:probinson]"
HP:0030272,"""An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme."" []"
HP:0030273,"""Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine."" [HPO:probinson]"
HP:0030274,"""Additional scrotum, or part of a scrotum in an abnormal location."" [PMID:23650202]"
HP:0030275,"""Scrotum in a position other than the usual position inferior to the base of the penis."" [PMID:23650202]"
HP:0030277,"""Abnormal morphology of a vertebral pedical."" [UToronto:bgallinger]"
HP:0030278,"""Underdeveloped vertebral pedicle."" [HPO:probinson]"
HP:0030279,"""Underdeveloped pedicle of the fifth lumbar vertebra."" [UToronto:bgallinger]"
HP:0030280,"""Radiolucent focal defect of a rib shaft."" [HPO:probinson]"
HP:0030281,"""Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development."" []"
HP:0030282,"""Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest."" [UToronto:bgallinger]"
HP:0030283,"""Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain."" [UToronto:bgallinger]"
HP:0030284,"""A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle."" [UToronto:bgallinger]"
HP:0030285,"""Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle."" [HPO:probinson]"
HP:0030286,"""Atrophy of the superior cerebellar peduncle."" [HPO:probinson]"
HP:0030289,"""An abnormal flattening of an epiphysis of femur."" [HPO:probinson]"
HP:0030290,"""Lack of ossification of the sacrum."" [HPO:probinson]"
HP:0030291,"""Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg."" [HPO:probinson]"
HP:0030292,"""Irregularity of the normally smooth surface of a metaphysis of a tibia."" [HPO:probinson]"
HP:0030293,"""Irregularity of the normally smooth surface of a metaphysis of a fibula."" [HPO:probinson]"
HP:0030294,Metaphyseal chondromatosis of tibia
HP:0030295,Metaphyseal chondromatosis of femur
HP:0030296,Metaphyseal chondromatosis of radius
HP:0030297,Metaphyseal chondromatosis of ulna
HP:0030298,Metaphyseal chondromatosis of humerus
HP:0030299,"""An anomaly of the metaphysis of the distal femur (close to the knee)."" [HPO:probinson]"
HP:0030300,"""Presence of only 10 (instead of the usual 12) pairs of ribs."" [UToronto:bgallinger]"
HP:0030301,"""An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts."" [UToronto:bgallinger]"
HP:0030302,"""Absence of the anterior commissure."" [UToronto:bgallinger]"
HP:0030303,"""Underdevelopment of the anterior commissure."" [UToronto:bgallinger]"
HP:0030304,"""A deviation from the normal number of vertebrae in the spinal column."" [HPO:probinson]"
HP:0030305,Decreased number of vertebrae
HP:0030306,"""The presence of 11 instead of the normal 12 thoracic vertebrae."" [UToronto:bgallinger]"
HP:0030307,"""The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg."" [HPO:probinson]"
HP:0030308,"""The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia."" [HPO:probinson]"
HP:0030309,"""The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula."" [HPO:probinson]"
HP:0030310,"""Displacement or malalignment of one or more joints in the upper extremity (arm)."" [HPO:probinson]"
HP:0030311,"""Displacement or malalignment of one or more joints in the lower extremity (leg)."" [HPO:probinson]"
HP:0030312,"""Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe)."" [HPO:probinson]"
HP:0030313,"""An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones."" [HPO:probinson]"
HP:0030314,"""Abnormal deposition of periosteal bone."" []"
HP:0030318,"""A type of inflammation of the lips involving one or both of the corners of the mouth."" [HPO:probinson]"
HP:0030319,"""Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)."" [HPO:probinson]"
HP:0030320,"""An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space."" [HPO:probinson]"
HP:0030321,"""An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system."" [HPO:probinson]"
HP:0030322,"""Underdevelopment of the vertebral artery."" []"
HP:0030323,"""Underdevelopment of the vertebral artery on one side."" [HPO:probinson]"
HP:0030324,"""Underdevelopment of the vertebral artery on both sides."" [HPO:probinson, PMID:23816871]"
HP:0030325,"""Fissure within the spinal cord of the neck."" [HPO:probinson]"
HP:0030326,"""An anomaly in the number of macrophages."" [HPO:probinson]"
HP:0030327,"""An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue."" []"
HP:0030328,"""Decreased number of osteoclasts in bone tissue."" [HPO:probinson, PMID:3513575]"
HP:0030329,"""Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT)."" [HPO:probinson]"
HP:0030330,"""The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage."" [HPO:probinson]"
HP:0030331,"""A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth)."" [PMID:19375384, UToronto:bgallinger]"
HP:0030333,"""A structuraly anomaly of T cells that express an alpha-beta T cell receptor."" []"
HP:0030334,"""A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells."" [HPO:probinson]"
HP:0030335,"""A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells."" [HPO:probinson]"
HP:0030336,"""Lack of CD4+CD25+ T regulatory cells."" [HPO:probinson]"
HP:0030337,"""An increased number of CD4-positive, CD25-positive regulatory T cells."" [HPO:probinson]"
HP:0030338,"""An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH)."" [HPO:probinson]"
HP:0030339,"""A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH)."" [HPO:probinson]"
HP:0030341,"""A reduction of the circulating level of follicle-stimulating hormone (FSH)."" [HPO:probinson]"
HP:0030344,"""A reduction in the circulating level of luteinizing hormone (LH)."" [HPO:probinson]"
HP:0030345,"""An anomaly of the circulating level of luteinizing hormone (LH)."" []"
HP:0030346,"""An anomaly of the circulating level of follicle-stimulating hormone (FSH)."" [HPO:probinson]"
HP:0030347,"""An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone."" [HPO:probinson]"
HP:0030348,"""An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone."" [HPO:probinson, PMID:27491213]"
HP:0030349,"""A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone."" [HPO:probinson]"
HP:0030350,"""A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color."" [HPO:probinson]"
HP:0030351,"""A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter."" []"
HP:0030352,"""An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation."" [HPO:probinson]"
HP:0030353,"""A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation."" [HPO:probinson]"
HP:0030354,"""Abnormal levels of interferon in the blood."" [PMID:28487810]"
HP:0030355,"""Abnormal levels of interferon gamma measured in the blood circulation."" [PMID:11335769]"
HP:0030356,"""An elevation in the concentration of interferon gamma measured in the blood circulation."" [HPO:probinson, PMID:11335769]"
HP:0030357,"""Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly."" [HPO:probinson]"
HP:0030358,Non-small cell lung carcinoma
HP:0030359,"""A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells."" [HPO:probinson]"
HP:0030360,"""A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin."" [HPO:probinson]"
HP:0030361,"""Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid)."" [HPO:probinson]"
HP:0030362,"""A reduction in the level of carnitine in muscle tissue."" [HPO:probinson, PMID:8174281, PMID:8472351]"
HP:0030363,"""Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section."" [HPO:probinson]"
HP:0030364,"""Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth."" [HPO:probinson]"
HP:0030365,"""Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally."" [HPO:probinson, PMID:24104780]"
HP:0030366,"""The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process."" [HPO:probinson, PMID:23962177]"
HP:0030367,"""Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges."" []"
HP:0030368,"""An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy."" [HPO:probinson, PMID:25480037, PMID:6540680]"
HP:0030369,"""Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own."" [HPO:probinson]"
HP:0030370,"""A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen."" [HPO:probinson]"
HP:0030371,"""An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen."" [HPO:probinson]"
HP:0030372,"""A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen."" [HPO:probinson]"
HP:0030373,"""A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)."" [HPO:probinson, PMID:15771579]"
HP:0030374,"""A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)."" [HPO:probinson]"
HP:0030375,"""An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)."" [HPO:probinson]"
HP:0030376,"""A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+)."" [HPO:probinson]"
HP:0030377,"""An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+)."" [HPO:probinson]"
HP:0030378,"""A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+)."" [HPO:probinson]"
HP:0030379,"""A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells."" [HPO:probinson, PMID:23731328]"
HP:0030380,"""A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells."" [HPO:probinson]"
HP:0030381,"""An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells."" [HPO:probinson]"
HP:0030383,"""A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells."" [HPO:probinson, PMID:9802980]"
HP:0030384,"""A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells."" [PMID:9802980]"
HP:0030385,"""An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells."" [HPO:probinson, PMID:9802980]"
HP:0030386,"""A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA."" [HPO:probinson, PMID:19342988]"
HP:0030387,"""An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA."" [HPO:probinson]"
HP:0030388,"""A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA."" [HPO:probinson]"
HP:0030389,"""Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels."" [HPO:probinson]"
HP:0030390,"""An abnormally decreased concentration of leukotriene C4 in the blood circulation."" [PMID:9820300]"
HP:0030391,"""Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus."" [HPO:probinson]"
HP:0030392,"""Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III."" [HPO:probinson, PMID:11135453]"
HP:0030393,"""A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin)."" [PMID:24966979]"
HP:0030394,"""Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk."" [HPO:probinson, NCIT:C3867]"
HP:0030396,"""Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion."" [HPO:probinson, PMID:19450911]"
HP:0030397,"""Abnormal release of dense granules from platelets."" [HPO:probinson]"
HP:0030398,"""Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP)."" []"
HP:0030399,"""Abnormal release of alpha granule contents from platelets."" [HPO:probinson]"
HP:0030400,"""Abnormal release of lysosome contents from platelets."" [HPO:probinson]"
HP:0030401,"""Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets."" [HPO:probinson]"
HP:0030402,"""An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent."" [HPO:probinson]"
HP:0030403,"""Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation."" [HPO:probinson]"
HP:0030404,"""An endocrine tumor of the pancreas that secretes excessive amounts of glucagon."" [HPO:probinson]"
HP:0030405,"""A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas."" [HPO:probinson]"
HP:0030406,"""A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum."" [HPO:probinson]"
HP:0030407,"""A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I)."" []"
HP:0030408,"""Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells."" [HPO:probinson, PMID:21717450]"
HP:0030409,"""A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice."" [HPO:probinson]"
HP:0030410,"""A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)"" [HPO:probinson]"
HP:0030411,"""A malignant epithelial tumor with a glandular organization that originates in the jejunum."" [HPO:probinson]"
HP:0030412,"""A malignant epithelial tumor with a glandular organization that originates in the ileum."" [HPO:probinson]"
HP:0030413,"""A carcinoma derived from a squamous epithelial cell of the tongue."" [HPO:probinson]"
HP:0030414,"""A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance."" []"
HP:0030415,"""Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation."" [HPO:probinson, PMID:20730609]"
HP:0030416,"""A tumor (abnormal growth of tissue) of the female external genital tract (vulva)."" [HPO:probinson]"
HP:0030417,"""A cancer that originates in the squamous cells that line the surface of the vulva."" [HPO:probinson, PMID:25848321]"
HP:0030418,"""A type of vulvar cancer that originates from melanocytes of the vulva."" [HPO:probinson, PMID:8723827]"
HP:0030419,"""A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina."" [HPO:probinson, PMID:25013508]"
HP:0030420,"""An adenocarcinoma arising in the vulva."" [HPO:probinson, PMID:23761517]"
HP:0030421,"""A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens."" [HPO:probinson]"
HP:0030423,"""A closed sac located in the spleen."" [HPO:probinson, PMID:24794024]"
HP:0030424,"""A smooth, extratesticular, spherical cyst in the head of the epididymis."" [HPO:probinson, PMID:14767330]"
HP:0030425,"""A cyst of the ovary that exhibits deposition of calcium salts."" [HPO:probinson]"
HP:0030426,"""A benign central bone tumor composed of fibrous connective tissue within which bone is formed."" [HPO:probinson]"
HP:0030427,"""A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed."" [HPO:probinson]"
HP:0030428,"""A myxoma originating in the skin."" [HPO:probinson, PMID:25118746]"
HP:0030429,"""A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity."" [HPO:probinson, PMID:15661706]"
HP:0030430,"""A tumor made up of nerve cells and nerve fibers."" [HPO:probinson]"
HP:0030431,"""A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone."" [HPO:probinson, PMID:18271966]"
HP:0030432,"""A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells."" [HPO:probinson, PMID:19387641]"
HP:0030433,"""A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone."" [HPO:probinson, PMID:23329939]"
HP:0030434,"""Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm."" [HPO:probinson, PMID:21430899]"
HP:0030436,"""Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation."" [HPO:probinson, PMID:17804924]"
HP:0030437,Anal canal neoplasm
HP:0030438,"""A squamous cell carcinoma that originates in the anal canal."" [HPO:probinson, PMID:22379406]"
HP:0030439,"""An adenoma carcinoma that originates in the anal canal."" [HPO:probinson, PMID:22379406]"
HP:0030440,"""A tumor of the anal margin."" [HPO:probinson, PMID:22379406]"
HP:0030441,"""An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells."" [HPO:probinson, PMID:22379406]"
HP:0030442,"""A squamous cell carcinoma that originates in the skin of the anal margin."" [HPO:probinson, PMID:22379406]"
HP:0030443,"""A basal cell carcinoma that originates in the anal margin."" [HPO:probinson]"
HP:0030444,"""A melanoma that originates in the anal margin."" [HPO:probinson]"
HP:0030445,"""A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma."" [HPO:probinson, PMID:21043816, PMID:24179657]"
HP:0030446,Atypical pulmonary carcinoid tumor
HP:0030447,"""A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features."" [HPO:probinson, PMID:16565213]"
HP:0030448,"""A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues."" [HPO:probinson]"
HP:0030449,"""Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice."" [HPO:probinson]"
HP:0030450,"""A tumor that arises from an element of the autonomic nervous system."" []"
HP:0030451,"""A closed fluid filled sac originating from the mesentary."" [HPO:probinson, PMID:24936122]"
HP:0030452,"""A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid."" [HPO:probinson, PMID:19946589]"
HP:0030453,Abnormal visual electrophysiology
HP:0030454,"""The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation."" [PMID:21298321]"
HP:0030455,Abnormality of pattern visual evoked potentials
HP:0030456,Abnormality of pattern onset/offset visual evoked potentials
HP:0030457,Abnormal amplitude of pattern onset/offset visual evoked potentials
HP:0030458,Abnormal timing of pattern onset/offset visual evoked potentials
HP:0030460,Abnormal timing of pattern reversal visual evoked potentials
HP:0030461,Abnormal timing of flash visual evoked potentials
HP:0030462,Abnormal amplitude of flash visual evoked potentials
HP:0030463,Asymmetrical distribution of flash visual evoked potentials
HP:0030464,Asymmetrical distribution of pattern reversal visual evoked potentials
HP:0030465,"""No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells."" [PMID:25502644]"
HP:0030466,Abnormal full-field electroretinogram
HP:0030467,"""An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light."" [HPO:probinson, PMID:17522779, PMID:3076152]"
HP:0030468,Abnormal multifocal electroretinogram
HP:0030469,Abnormal dark-adapted electroretinogram
HP:0030470,Abnormal dark-adapted bright flash electroretinogram
HP:0030471,Abnormal dark-adapted dim flash electroretinogram
HP:0030472,Abnormal light-adapted single flash electroretinogram
HP:0030473,Abnormal light-adapted flicker electroretinogram
HP:0030474,Undetectable dark-adapted electroretinogram
HP:0030475,Abnormal timing of dark-adapted dim flash electroretinogram
HP:0030476,Abnormal amplitude of dark-adapted dim flash electroretinogram
HP:0030477,Abnormal timing of dark-adapted bright flash electroretinogram
HP:0030478,Abnormal amplitude of dark-adapted bright flash electroretinogram
HP:0030479,Abnormal amplitude of light-adapted flicker electroretinogram
HP:0030480,Abnormal timing of light-adapted flicker electroretinogram
HP:0030481,Abnormal amplitude of light-adapted single flash electroretinogram
HP:0030482,Abnormal timing of light-adapted single flash electroretinogram
HP:0030483,"""An abnormal reduction in the amplitude of the a-wave."" []"
HP:0030484,Supernormal dark-adapted bright flash electroretinogram b-wave
HP:0030485,Abnormal amplitude of pattern electroretinogram
HP:0030486,Abnormal timing of pattern electroretinogram
HP:0030487,Abnormal P50/N95 ratio of pattern electroretinogram
HP:0030488,Abnormal central response of multifocal electroretinogram
HP:0030489,Abnormal paracentral response of multifocal electroretinogram
HP:0030490,Exudative vitreoretinopathy
HP:0030491,"""Atrophy of the capillary lamina of choroid."" [HPO:probinson]"
HP:0030493,"""An anomaly of the pigmentation in the fovea centralis."" []"
HP:0030494,"""Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms)."" []"
HP:0030495,"""Any structural anomaly of the blood vessels of the macula."" []"
HP:0030496,"""Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature."" [ORCID:0000-0003-0986-4123]"
HP:0030497,"""Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels."" [PMID:6169833]"
HP:0030498,"""Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging."" [ORCID:0000-0003-0986-4123]"
HP:0030499,"""Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula."" [HPO:probinson]"
HP:0030500,Yellow/white lesions of the macula
HP:0030501,"""Crystalline deposits in the macula."" []"
HP:0030502,"""Splitting of the neuroretinal layers of the retina."" [HPO:probinson]"
HP:0030503,Macular telangiectasia
HP:0030504,Grouped congenital hypertrophy of retinal pigment epithelium
HP:0030505,"""Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium."" [PMID:21763485]"
HP:0030506,Yellow/white lesions of the retina
HP:0030507,"""Crystalline deposits in the retina."" [PMID:12498506]"
HP:0030508,Retinal cavernous hemangioma
HP:0030509,Retinal racemose hemangioma
HP:0030510,Combined hamartoma of the retinal pigment epithelium and retina
HP:0030511,"""Difficulty in seeing moving objects."" [PMID:25770143]"
HP:0030512,Difficulty adjusting to changes in luminance
HP:0030513,Difficulty adjusting from light to dark
HP:0030514,Difficulty adjusting from dark to light
HP:0030515,"""Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation)."" [ORCID:0000-0001-5208-3432, PMID:28779882]"
HP:0030516,Homonymous hemianopia
HP:0030517,Heteronymous hemianopia
HP:0030518,Congruous homonymous hemianopia
HP:0030519,Congruous heteronymous hemianopia
HP:0030520,Binasal hemianopia
HP:0030521,Bitemporal hemianopia
HP:0030522,"""A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians."" [UManchester:psergouniotis]"
HP:0030525,"""Peripheral visual field constriction with 20-49 degrees binocular visual field preserved."" []"
HP:0030526,"""Peripheral visual field constriction with 10-19 degrees central field preserved."" []"
HP:0030527,"""Peripheral visual field constriction with <10 degrees central field preserved."" []"
HP:0030528,Paracentral scotoma
HP:0030529,Ring scotoma
HP:0030530,Arcuate scotoma
HP:0030531,Altitudinal visual field defect
HP:0030532,Visual acuity test abnormality
HP:0030533,Abnormal unaided visual acuity test
HP:0030534,Abnormal best corrected visual acuity test
HP:0030535,Abnormal pinhole visual acuity test
HP:0030536,Unaided visual acuity 0.1 LogMAR
HP:0030537,Unaided visual acuity 0.2 LogMAR
HP:0030538,Unaided visual acuity 0.3 LogMAR
HP:0030539,Unaided visual acuity 0.4 LogMAR
HP:0030540,Unaided visual acuity 0.5 LogMAR
HP:0030541,Unaided visual acuity 0.6 LogMAR
HP:0030542,Unaided visual acuity 0.7 LogMAR
HP:0030543,Unaided visual acuity 0.8 LogMAR
HP:0030544,Unaided visual acuity 0.9 LogMAR
HP:0030545,Unaided visual acuity 1.0 LogMAR
HP:0030546,Unaided visual acuity 1.1 LogMAR
HP:0030547,Unaided visual acuity 1.2 LogMAR
HP:0030548,Unaided visual acuity 1.3 LogMAR
HP:0030549,Unaided visual acuity 2.0 LogMAR
HP:0030550,Unaided visual acuity 3.0 LogMAR
HP:0030551,Visual acuity light perception with projection
HP:0030552,Visual acuity light perception without projection
HP:0030553,Visual acuity no light perception
HP:0030554,Best corrected visual acuity 0.1 LogMAR
HP:0030555,Best corrected visual acuity 0.2 LogMAR
HP:0030556,Best corrected visual acuity 0.3 LogMAR
HP:0030557,Best corrected visual acuity 0.4 LogMAR
HP:0030558,Best corrected visual acuity 0.5 LogMAR
HP:0030559,Best corrected visual acuity 0.7 LogMAR
HP:0030560,Best corrected visual acuity 0.6 LogMAR
HP:0030561,Best corrected visual acuity 0.8 LogMAR
HP:0030562,Best corrected visual acuity 0.9 LogMAR
HP:0030563,Best corrected visual acuity 1.0 LogMAR
HP:0030564,Best corrected visual acuity 1.1 LogMAR
HP:0030565,Best corrected visual acuity 1.2 LogMAR
HP:0030566,Best corrected visual acuity 1.3 LogMAR
HP:0030567,Best corrected visual acuity 2.0 LogMAR
HP:0030568,Best corrected visual acuity 3.0 LogMAR
HP:0030569,Pinhole visual acuity 0.1 LogMAR
HP:0030570,Pinhole visual acuity 0.2 LogMAR
HP:0030571,Pinhole visual acuity 0.3 LogMAR
HP:0030572,Pinhole visual acuity 0.4 LogMAR
HP:0030573,Pinhole visual acuity 0.5 LogMAR
HP:0030574,Pinhole visual acuity 0.6 LogMAR
HP:0030575,Pinhole visual acuity 0.7 LogMAR
HP:0030576,Pinhole visual acuity 0.8 LogMAR
HP:0030577,Pinhole visual acuity 0.9 LogMAR
HP:0030578,Pinhole visual acuity 1.0 LogMAR
HP:0030579,Pinhole visual acuity 1.1 LogMAR
HP:0030580,Pinhole visual acuity 1.2 LogMAR
HP:0030581,Pinhole visual acuity 1.3 LogMAR
HP:0030582,Pinhole visual acuity 2.0 LogMAR
HP:0030583,Pinhole visual acuity 3.0 LogMAR
HP:0030584,Color vision test abnormality
HP:0030585,Red desaturation
HP:0030586,Abnormal Ishihara plate test
HP:0030587,Abnormal Hardy-Rand-Rittler plate test
HP:0030588,"""Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field."" []"
HP:0030589,Abnormal confrontational visual field test
HP:0030590,Abnormal Amsler grid test
HP:0030591,Abnormal kinetic perimetry test
HP:0030592,Abnormal static perimetry test
HP:0030593,Abnormal manual kinetic perimetry test
HP:0030594,Abnormal automated kinetic perimetry test
HP:0030595,Abnormal static automated perimetry test
HP:0030596,Abnormal Humphrey SITA 30-2 perimetry test
HP:0030597,Abnormal Humphrey SITA 24-2 perimetry test
HP:0030598,Abnormal Humphrey SITA 10-2 perimetry test
HP:0030599,Abnormal Estermann grid perimetry test
HP:0030601,Abnormal posterior segment imaging
HP:0030602,"""Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference."" [PMID:27847630]"
HP:0030603,Abnormal optical coherence tomography
HP:0030604,"""An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation."" []"
HP:0030605,Abnormal indocyanine green angiography
HP:0030606,Abnormal OCT-measured macular thickness
HP:0030607,Reduced OCT-measured macular thickness
HP:0030608,Increased OCT-measured macular thickness
HP:0030609,"""Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography."" [HPO:probinson]"
HP:0030610,Photoreceptor outer segment loss on macular OCT
HP:0030611,Retinal pigment epithelial loss on macular OCT
HP:0030612,Abnormal retinal morphology on macular OCT
HP:0030613,Abnormal foveal morphology on macular OCT
HP:0030614,Foveal photoreceptor layer loss on macular OCT
HP:0030615,Foveal photoreceptor outer segment loss on macular OCT
HP:0030616,Foveal retinal pigment epithelial loss on macular OCT
HP:0030617,Abnormal OCT-measured foveal thickness
HP:0030618,Increased OCT-measured foveal thickness
HP:0030619,Reduced OCT-measured foveal thickness
HP:0030620,Inner retinal layer loss on macular OCT
HP:0030621,Foveal inner retinal layer loss on macular OCT
HP:0030622,Abnormal foveal pit on macular OCT
HP:0030623,Intraretinal hyporeflective spaces on macular OCT
HP:0030624,Subretinal hyporeflective spaces on macular OCT
HP:0030625,Hyporeflective spaces on macular OCT
HP:0030626,Foveal intraretinal hyporeflective spaces on macular OCT
HP:0030627,Foveal hyporeflective spaces on macular OCT
HP:0030628,Foveal subretinal hyporeflective spaces on macular OCT
HP:0030629,Perifoveal ring of hyperautofluorescence
HP:0030630,Irregular central macular autofluorescence
HP:0030631,"""Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging."" [PMID:27847630]"
HP:0030632,"""Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging."" [PMID:27847630]"
HP:0030633,Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence
HP:0030634,Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence
HP:0030635,Retinal dystrophy with early macular involvement
HP:0030636,"""Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities."" [ORCID:0000-0003-0986-4123]"
HP:0030637,"""Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia."" [UManchester:psergouniotis]"
HP:0030638,Congenital stationary night blindness with normal fundus
HP:0030639,Congenital stationary night blindness with abnormal fundus
HP:0030640,Complete congenital stationary night blindness
HP:0030641,Incomplete congenital stationary night blindness
HP:0030642,Fundus albipunctatus
HP:0030643,Vitelliform-like retinal lesions
HP:0030644,Blind-spot enlargment
HP:0030645,"""Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure."" []"
HP:0030646,Peripheral
HP:0030647,Paracentral
HP:0030648,Midperipheral
HP:0030649,Pericentral
HP:0030650,Focal
HP:0030651,Multifocal
HP:0030652,"""Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation."" [HPO:probinson, PMID:20719302]"
HP:0030654,"""Any cystic lesion associated with the umbilical cord."" [PMID:10206815, PMID:12666213]"
HP:0030655,"""An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord."" [PMID:25184085]"
HP:0030656,"""Focal dilation of the umbilical vein."" []"
HP:0030657,"""Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels."" []"
HP:0030658,"""Insertion of the umbilical cord within 2 cm from the placental edge."" [PMID:26366000, PMID:29201670]"
HP:0030659,"""Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta."" [PMID:26366000]"
HP:0030660,"""Branching of the umbilical cord before its insertion into the placenta."" []"
HP:0030661,"""Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery."" [PMID:20029143]"
HP:0030662,"""The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous."" []"
HP:0030663,"""Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity."" [PMID:15557460, PMID:7867814]"
HP:0030664,"""Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus."" [PMID:2146943]"
HP:0030665,"""Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements."" [PMID:6568936]"
HP:0030666,"""In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment."" [PMID:23329331]"
HP:0030667,"""A type of retinal neovascularization that affects the periphery of the retina."" [HPO:probinson, PMID:22076700]"
HP:0030668,"""A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts."" []"
HP:0030669,"""A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva."" []"
HP:0030670,"""A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region."" []"
HP:0030671,"""Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles."" [HPO:probinson]"
HP:0030672,"""The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits."" []"
HP:0030673,"""A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels."" [PMID:8152765]"
HP:0030674,"""Onset prior to birth."" [HPO:probinson]"
HP:0030675,"""Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue."" []"
HP:0030676,"""Sharp pointed superior portion of the ear, with variable overfolding of the helix."" [PMID:19152421]"
HP:0030677,"""A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus."" [PMID:21587051]"
HP:0030679,"""A hypopigmented spot in the shape of a leaf from the mountain ash tree."" [HPO:probinson, PMID:23761491, PMID:9637809]"
HP:0030680,"""Any structural anomaly of the heart and great vessels."" []"
HP:0030681,"""Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae)."" []"
HP:0030682,"""Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer."" [PMID:16670098, PMID:25443708]"
HP:0030683,"""Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge."" []"
HP:0030684,"""A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism."" [HPO:probinson, PMID:26221520]"
HP:0030685,"""A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue."" [HPO:probinson]"
HP:0030686,"""An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue."" []"
HP:0030687,"""A deviation from the normal concentration of glucagon in the blood circulation."" [HPO:probinson]"
HP:0030688,"""An elevated concentration of glucagon in the blood circulation."" []"
HP:0030689,"""A reduced concentration of glucagon in the blood circulation."" []"
HP:0030690,"""A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla."" []"
HP:0030691,"""A condition in which both eyes beat outward simultaneously."" []"
HP:0030692,"""A benign or malignant neoplasm that arises from or metastasizes to the brain."" []"
HP:0030693,"""A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli."" []"
HP:0030694,Pineal parenchymal cell neoplasm
HP:0030706,"""A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location."" [PMID:23291329, UToronto:chum]"
HP:0030707,"""Lack of development of one lung."" []"
HP:0030708,"""The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane."" [PMID:20885122, UToronto:chum]"
HP:0030709,"""Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst."" [PMID:9514174, UToronto:chum]"
HP:0030710,"""A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life."" [UToronto:chum]"
HP:0030711,"""Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction."" [UToronto:chum]"
HP:0030712,"""Adhesions or scar tissue that form inside the cavity of the uterus."" [UToronto:chum]"
HP:0030713,"""Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen."" [PMID:32706613, PMID:33168212, UToronto:chum]"
HP:0030714,"""A large maternal clot that separates the chorionic plate from the villous chorion."" [PMID:11125254, UToronto:chum]"
HP:0030715,"""A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis."" [UToronto:chum]"
HP:0030716,"""Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly."" [UToronto:chum]"
HP:0030717,"""Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications."" [PMID:3317498, UToronto:chum]"
HP:0030718,"""Increase in size of the right atrium."" [HPO:probinson]"
HP:0030719,"""A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue."" [PMID:14246338, UToronto:chum]"
HP:0030720,"""Cyst on the surface of the placenta consisting of amnion and chorion."" [UToronto:chum]"
HP:0030721,"""Phocomelia involving all four extremities."" [UToronto:chum]"
HP:0030722,"""Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter."" [HPO:probinson, PMID:11988792, PMID:637502]"
HP:0030723,"""Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa."" [PMID:20981865, UToronto:chum]"
HP:0030724,"""A fluid-filled sac (cyst) located within the central nervous system."" [HPO:probinson, PMID:11593239, PMID:24455569]"
HP:0030725,"""The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium."" [PMID:20890417, UToronto:chum]"
HP:0030726,"""A neurenteric cyst located in the spine."" [UToronto:chum]"
HP:0030727,"""A neurenteric cyst located within the skull."" [UToronto:chum]"
HP:0030728,"""Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot."" [UToronto:chum]"
HP:0030729,"""A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones."" [HPO:probinson]"
HP:0030730,"""A herniation of meninges through a congenital bone defect in the skull in the parietal region."" [HPO:probinson]"
HP:0030731,"""A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus)."" [HPO:probinson]"
HP:0030732,"""A congenital malformation of the tricuspid valve characterized by leaflet deformation."" [HPO:probinson, PMID:2007717, PMID:26059011, UToronto:chum]"
HP:0030733,"""An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst."" [HPO:probinson, PMID:2521673, UToronto:chum]"
HP:0030735,"""Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle."" [UToronto:chum]"
HP:0030736,"""A teratoma arising in the sacro-coccygeal region."" [UToronto:chum]"
HP:0030737,"""A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks."" [HPO:probinson]"
HP:0030738,"""A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component."" [HPO:probinson]"
HP:0030739,"""A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass."" [HPO:probinson]"
HP:0030740,"""An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract."" [UToronto:chum]"
HP:0030741,"""A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs)."" [UToronto:chum]"
HP:0030742,"""This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot."" []"
HP:0030743,"""Persistance of a posterior remnant of the hyaloid artery located at the optic disc."" [HPO:probinson]"
HP:0030744,"""A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract."" [HPO:probinson]"
HP:0030745,"""Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end."" [PMID:10898444, PMID:11788230, PMID:27433265, PMID:29656824, UToronto:chum]"
HP:0030746,"""Bleeding into the ventricles of the brain."" [UToronto:chum]"
HP:0030747,"""Intraventricular hemorrhage that occurs in a premature infant."" [HPO:probinson]"
HP:0030748,"""Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove."" [HPO:probinson, PMID:25371784]"
HP:0030749,"""Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle."" [UToronto:chum]"
HP:0030750,"""Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles."" [UToronto:chum]"
HP:0030751,"""Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension."" [UToronto:chum]"
HP:0030752,"""A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve."" [PMID:19205594, UToronto:chum]"
HP:0030753,"""Loss of one twin occurring after midgestation (17 weeks gestation)."" [HPO:jdavis, PMID:10732306, PMID:2187353, PMID:24361180, PMID:2704493, PMID:9699754]"
HP:0030754,"""A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly."" [PMID:24950576, PMID:26213613, UToronto:chum]"
HP:0030755,"""A teratoma located in the craniofacial region."" [UToronto:chum]"
HP:0030756,"""Reddish, brown opalescent discoloration of teeth in normal light."" [PMID:21731282]"
HP:0030757,"""A pocket of pus located within a region of a tooth."" [HPO:probinson]"
HP:0030758,"""A tooth abscess that occurs at the tip of the root (apex) of a tooth."" []"
HP:0030759,"""An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy."" [HPO:probinson, PMID:25148116]"
HP:0030760,"""Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease."" [HPO:probinson, PMID:16408108]"
HP:0030762,"""Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain."" [HPO:probinson, PMID:32866505, PMID:6353041]"
HP:0030763,"""A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion."" [UToronto:chum]"
HP:0030764,"""Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved."" [HPO:probinson, PMID:24447956, PMID:26929770]"
HP:0030765,"""Episodes of intense fear, screaming and flailing although affected individuals are still asleep."" []"
HP:0030766,"""Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia)."" [PMID:20736106]"
HP:0030767,"""Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate."" [PMID:19240824, UToronto:chum]"
HP:0030769,"""A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium."" [PMID:21887200, UToronto:chum]"
HP:0030770,"""A neural tube defect in which both the brain and spinal cord remain open to varying degrees."" [PMID:22095531, UToronto:chum]"
HP:0030771,"""Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own."" [HPO:jmcmurry, PMID:24839413]"
HP:0030772,"""Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb."" [PMID:21438051, PMID:23915863, UToronto:chum]"
HP:0030773,"""An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule."" [HPO:probinson, PMID:1344079, PMID:21687160, PMID:25145891]"
HP:0030774,"""The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures."" [HPO:probinson, PMID:22907871]"
HP:0030775,"""An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic."" [HPO:probinson, PMID:24162519]"
HP:0030776,"""An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation."" [HPO:probinson, PMID:24162519]"
HP:0030777,"""An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow."" [HPO:probinson, PMID:24162519]"
HP:0030778,"""An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs."" [HPO:probinson, PMID:24162519]"
HP:0030779,"""Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears."" [PMID:23248551, UToronto:chum]"
HP:0030780,"""An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC."" [HPO:probinson, PMID:12970121, PMID:15943976]"
HP:0030781,"""A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues."" [HPO:probinson]"
HP:0030782,"""An abnormal amount of any of the interleukins, a class of cytokines, in the circulation."" [HPO:probinson, PMID:28487810]"
HP:0030783,"""An increased concentration of interleukin-6 in the blood circulation."" [HPO:probinson, PMID:9883970]"
HP:0030784,"""An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name."" [HPO:probinson, PMID:18348092]"
HP:0030785,"""A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors."" [PMID:25821300, UToronto:chum]"
HP:0030786,"""Perceived flashes of light."" [HPO:probinson, PMID:10506812]"
HP:0030787,"""Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal."" [HPO:probinson]"
HP:0030788,"""Blockage of the external auditory canal by a buildup of earwax."" [HPO:probinson, PMID:15256605]"
HP:0030789,"""An increased quantity of earwax."" [PMID:probinson]"
HP:0030790,"""An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color."" [HPO:probinson]"
HP:0030791,"""A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla."" [HPO:probinson]"
HP:0030792,"""A tumor originating in the jaw (mandible or maxilla)."" [HPO:probinson]"
HP:0030793,"""Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible)."" [HPO:probinson]"
HP:0030794,"""An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion."" [HPO:probinson, PMID:15198367]"
HP:0030795,"""A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion."" [HPO:probinson]"
HP:0030796,"""An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion."" [HPO:probinson]"
HP:0030797,"""A diminished volume of the central part of the bed nucleus of the stria terminalis."" [HPO:probinson, PMID:7477289]"
HP:0030798,"""The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus."" [HPO:probinson, PMID:12600711]"
HP:0030799,"""Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis."" [HPO:probinson, PMID:16156241, PMID:23960302]"
HP:0030800,"""An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power."" [HPO:probinson]"
HP:0030801,"""A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances."" [HPO:probinson]"
HP:0030802,"""Inferior malposition of the lower eyelid margin without eyelid eversion."" [HPO:probinson, PMID:10946945]"
HP:0030803,"""Abnormal flat nail."" [HPO:probinson]"
HP:0030804,"""Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix."" [HPO:probinson, PMID:22016269, PMID:26273150]"
HP:0030805,"""Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail."" [HPO:probinson]"
HP:0030806,"""Nails whose growth is quicker than normal."" [HPO:probinson]"
HP:0030807,"""Nail whose growth pattern or speed deviates from normal."" [HPO:probinson]"
HP:0030808,"""The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle."" [HPO:probinson]"
HP:0030809,"""Any structural anomaly of the tongue."" []"
HP:0030810,"""Any functional anomaly of the tongue."" []"
HP:0030811,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue."" [HPO:probinson]"
HP:0030812,"""Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat."" [HPO:probinson]"
HP:0030813,"""Lack of observable tonsillar tissue."" [HPO:probinson]"
HP:0030814,"""A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903."" [HPO:probinson, PMID:19470903]"
HP:0030815,"""A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue."" [HPO:probinson]"
HP:0030816,"""The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth."" []"
HP:0030817,"""Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit."" [HPO:probinson]"
HP:0030818,"""The presence of a depressed line (\""canal\"") in the center of the nail."" []"
HP:0030819,"""Nails that slope upward at the free edge."" [HPO:probinson]"
HP:0030820,"""Eyelid partly covered by skin when eyes are open."" [HPO:probinson]"
HP:0030821,"""Lower eyelid partly covered by skin when eyes are open."" []"
HP:0030822,"""Upper eyelid partly covered by skin when eyes are open."" []"
HP:0030823,"""Increased dimension of the sclera in the anterior-posterior axis."" [HPO:probinson]"
HP:0030824,"""Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]."" [HPO:probinson]"
HP:0030825,"""Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope."" [HPO:probinson, PMID:27491360]"
HP:0030826,"""Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching."" [HPO:probinson]"
HP:0030828,"""A high-pitched whistling sound associated with labored breathing."" [HPO:probinson, PMID:26229557]"
HP:0030829,"""An anomalous (adventitious) sound produced by the breathing process."" [HPO:probinson]"
HP:0030830,"""Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position."" [PMID:26229557, UToronto:chum]"
HP:0030831,"""Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds."" [PMID:26229557, UToronto:chum]"
HP:0030832,"""Fiber- or rope-like opacities located within the vitreous humor."" []"
HP:0030833,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck."" [UToronto:chum]"
HP:0030834,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder."" [UToronto:chum]"
HP:0030835,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow."" [UToronto:chum]"
HP:0030836,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist."" [UToronto:chum]"
HP:0030837,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger."" [UToronto:chum]"
HP:0030838,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip."" [UToronto:chum]"
HP:0030839,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee."" [UToronto:chum]"
HP:0030840,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle."" []"
HP:0030841,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe."" [UToronto:chum]"
HP:0030842,"""Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing."" [HPO:probinson]"
HP:0030843,"""Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding."" [HPO:probinson, PMID:16186440]"
HP:0030844,"""Absent response to a pattern electroretinogram (PERG)."" [HPO:probinson]"
HP:0030845,"""Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema."" [HPO:probinson, PMID:12786876, PMID:25587479]"
HP:0030846,"""An anomaly of venous function."" [HPO:probinson]"
HP:0030847,"""An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure."" [HPO:probinson, PMID:24085809]"
HP:0030848,"""Increased jugular venous pressure."" []"
HP:0030849,"""The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux."" [HPO:probinson, PMID:24085809]"
HP:0030850,"""An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure."" [HPO:probinson]"
HP:0030851,"""Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure)."" [HPO:probinson]"
HP:0030852,"""Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure)."" [HPO:probinson]"
HP:0030853,"""An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body."" [HPO:probinson, PMID:21731561]"
HP:0030854,"""A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure."" [HPO:probinson, PMID:22454726]"
HP:0030855,"""A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure."" [HPO:probinson, PMID:24600153]"
HP:0030856,"""A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure."" [HPO:probinson, PMID:25376120]"
HP:0030857,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding."" [HPO:probinson, PMID:12928305]"
HP:0030858,"""A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains."" [HPO:probinson, PMID:20560821]"
HP:0030859,"""The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I."" [LMU:mgriese, PMID:16112028, PMID:31858335]"
HP:0030860,"""Abnormal concentration of amyloid in the cerebrospinal fluid (CSF)."" []"
HP:0030861,"""Reduced concentration of amyloid in the cerebrospinal fluid (CSF)."" []"
HP:0030862,"""Increased concentration of amyloid in the cerebrospinal fluid (CSF)."" []"
HP:0030863,"""Widening of the nostrils upon inhalation as a manifestation of respiratory distress."" [PMID:25274969, UToronto:chum]"
HP:0030864,"""A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress."" [PMID:25274969]"
HP:0030865,"""Abnormal increased size of the elbow joint."" [HPO:probinson]"
HP:0030866,"""Abnormally increased size of the knee joint."" [HPO:probinson]"
HP:0030867,"""The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other."" [HPO:probinson, PMID:7795293]"
HP:0030868,"""Having only one testis in the scrotum."" [HPO:probinson]"
HP:0030869,"""An abnormality of XY sexual development characterized by the absence of both testes at birth."" [HPO:probinson]"
HP:0030870,"""An anomaly of the small joints located between and behind adjacent vertebrae."" [HPO:probinson]"
HP:0030871,"""Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray."" [HPO:probinson]"
HP:0030872,"""An abnormality of the cardiac ventricular function."" [NIHR:ldaugherty]"
HP:0030873,"""The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components."" [LMU:mgriese, PMID:17444587, PMID:31858335]"
HP:0030874,"""Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa."" [NIHR:ldaugherty, PMID:24121092]"
HP:0030875,"""A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart."" [HPO:probinson]"
HP:0030876,"""Pulmonary capillary wedge pressure (PCWP) above 15mmHg."" [NIHR:ldaugherty]"
HP:0030877,"""Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity)."" [NIHR:ldaugherty, PMID:22347750, PMID:24695507]"
HP:0030878,"""Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography."" [HPO:probinson, PMID:22347750, PMID:24695507]"
HP:0030879,"""Presence of thickening of the interlobular septa of the lungs as seen on a CT scan."" [NIHR:ldaugherty, PMID:23247773]"
HP:0030880,Raynaud phenomenon
HP:0030881,"""Trapping and compression of the rotator cuff tendons during shoulder movements."" [HPO:probinson]"
HP:0030882,"""Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel."" [HPO:probinson, PMID:28374180]"
HP:0030883,"""Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis."" [PMID:22108232]"
HP:0030884,"""Feeding problem necessitating gastrojejunal tube feeding."" [PMID:11827911]"
HP:0030885,"""Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection."" [HPO:probinson]"
HP:0030886,"""A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes."" [HPO:probinson, PMID:17562483]"
HP:0030887,"""A elevation in the rate of apoptosis in lymphocytes."" []"
HP:0030888,"""The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb)."" []"
HP:0030889,"""Substantially shortened length of the small intestine as a result of a developmental defect."" [PMID:18209785]"
HP:0030890,"""A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter."" [PMID:15576652]"
HP:0030891,"""Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles."" [PMID:15576652]"
HP:0030892,"""Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system."" [PMID:15576652]"
HP:0030893,"""Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg."" [NIHR:ldaugherty, PMID:20004088]"
HP:0030894,"""No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide."" [NIHR:ldaugherty]"
HP:0030895,"""An anomaly of the muscular contractions that propel food though the gastrointestinal tract."" [HPO:probinson]"
HP:0030896,"""A deviation from the normal amount of time required for food to pass through the intestines."" [PMID:22206545]"
HP:0030897,"""A reduction in the length of time required for food to pass through the intestines."" [PMID:22206545]"
HP:0030898,"""Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen."" []"
HP:0030899,"""Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand."" []"
HP:0030900,"""Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot."" []"
HP:0030901,"""Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast."" []"
HP:0030902,"""A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm."" [HPO:probinson, PMID:12122165, PMID:21250236]"
HP:0030903,"""A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]."" [HPO:probinson, PMID:12700289]"
HP:0030904,"""A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign."" [HPO:probinson]"
HP:0030905,"""A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout."" [PMID:21250236]"
HP:0030906,"""A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched."" [PMID:21250236]"
HP:0030907,"""Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days."" []"
HP:0030908,"""The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2)."" [PMID:29554146]"
HP:0030909,"""The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction."" [PMID:7806169]"
HP:0030911,"""Two clitorides located side by side."" [PMID:23650202]"
HP:0030912,"""Supernumerary clitoris."" []"
HP:0030913,"""Marked rugae formation of the skin of the labia majora."" [PMID:23650202]"
HP:0030914,"""An anomaly of the wave-like muscle contractions of the digestive tract."" [HPO:probinson]"
HP:0030915,"""Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum."" []"
HP:0030917,Low APGAR score
HP:0030918,Low 1-minute APGAR score
HP:0030919,Low 5-minute APGAR score
HP:0030920,5-minute APGAR score of 0
HP:0030921,5-minute APGAR score of 1
HP:0030922,5-minute APGAR score of 2
HP:0030923,5-minute APGAR score of 3
HP:0030924,5-minute APGAR score of 4
HP:0030925,5-minute APGAR score of 5
HP:0030926,5-minute APGAR score of 6
HP:0030927,1-minute APGAR score of 0
HP:0030928,1-minute APGAR score of 1
HP:0030929,1-minute APGAR score of 2
HP:0030930,1-minute APGAR score of 3
HP:0030931,1-minute APGAR score of 4
HP:0030932,1-minute APGAR score of 5
HP:0030933,1-minute APGAR score of 6
HP:0030934,"""A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed."" []"
HP:0030935,"""A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine."" []"
HP:0030936,"""Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer."" [PMID:18788889, PMID:26078585]"
HP:0030937,"""The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process."" []"
HP:0030938,"""Aggregates of stainable substances (proteins) in the nuclei of enteric neurons."" []"
HP:0030939,"""An increased thickness of the eyelid not related to acute inflammation."" []"
HP:0030943,"""Pain in the vulvar area"" []"
HP:0030946,"""Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells."" []"
HP:0030947,"""Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells."" []"
HP:0030948,"""Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues."" [PMID:26543300]"
HP:0030949,"""An abnormal accumulation of protein in the glomerulus."" []"
HP:0030950,"""An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension."" []"
HP:0030951,"""Excessive formation of fibrous bands of scar tissue in between muscle fibers."" [PMID:21798099]"
HP:0030952,"""Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus."" [HPO:mhaendel, PMID:25667738, PMID:33845003]"
HP:0030953,"""Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera."" []"
HP:0030955,"""An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol."" []"
HP:0030956,"""An anomaly of the electrical conduction physiology of the heart."" []"
HP:0030957,"""A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion."" []"
HP:0030958,"""Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle)."" [PMID:5846101, PMID:6018320]"
HP:0030959,"""Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle)."" [PMID:5846101]"
HP:0030961,"""Lens of the eye is smaller than normal and spherically shaped."" []"
HP:0030962,"""A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta."" []"
HP:0030964,Abnormal aortic physiology
HP:0030965,"""The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension."" [PMID:28540066]"
HP:0030966,"""An abnormality of the structure of the pulmonary artery."" []"
HP:0030967,"""An abnormality of the function of the pulmonary artery."" []"
HP:0030968,"""An abnormality of the structure of the pulmonary veins."" []"
HP:0030969,"""An abnormality of the function of the pulmonary veins."" []"
HP:0030970,"""An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava."" []"
HP:0030972,"""A chronic deviation from normal pressure in the systemic arterial system."" []"
HP:0030973,"""Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse."" [PMID:25695122, PMID:26904705, PMID:32105793, PMID:33071931]"
HP:0030974,"""A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out)."" [PMID:25780588]"
HP:0030975,"""An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle."" [PMID:17690130, PMID:18842761, PMID:25691269]"
HP:0030976,"""A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X."" []"
HP:0030977,"""Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X."" [ORCID:0000-0002-2826-3879]"
HP:0030978,"""A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration."" [ORCID:0000-0003-0169-8159, PMID:27388694]"
HP:0030979,"""Enlargement of the large blood vessels in the choroid."" [PMID:26026923]"
HP:0030980,"""An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS)."" [ORCID:0000-0003-0169-8159, PMID:24123328]"
HP:0030981,"""A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF."" [PMID:27388694]"
HP:0030983,"""A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types."" [NCIT:C1882229, PMID:27284435]"
HP:0030984,"""A deviation from the normal concentration of serum bile acid concentration."" []"
HP:0030985,"""A reduction in the concentration of bile acid in the blood."" []"
HP:0030986,"""Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen."" [PMID:21994886]"
HP:0030987,"""Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess)."" [PMID:21994886]"
HP:0030988,"""Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts."" [PMID:22333006]"
HP:0030989,"""Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement."" [PMID:21994886]"
HP:0030990,"""Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree."" []"
HP:0030991,"""Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative."" []"
HP:0030992,"""Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum."" [PMID:24265565]"
HP:0030993,"""A congenital anomaly characterized by the presence of two separate pancreatic ducts."" []"
HP:0030994,"""A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present."" [PMID:24265565]"
HP:0030995,"""An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen)."" []"
HP:0030996,"""Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum."" []"
HP:0030997,"""Abnormal closure or blockage of the vas deferens."" []"
HP:0030998,"""Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose."" [PMID:17767107]"
HP:0030999,"""Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement)."" []"
HP:0031000,"""Deterioration or loss of the tissues of the saccule of the vestibule."" []"
HP:0031001,"""A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle."" []"
HP:0031002,"""Inflammation of a nerve."" []"
HP:0031003,"""Simulataneous inflammation of multiple nerves."" []"
HP:0031004,"""Areflexia that is limited to one side of the body."" [PMID:6722516]"
HP:0031006,"""A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes."" []"
HP:0031007,Orofacial action-specific dystonia induced by speech
HP:0031008,"""Involuntary protrusions, movements, spams and contortions of the tongue."" [PMID:24808861]"
HP:0031009,"""Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation."" [PMID:26379327]"
HP:0031010,"""An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint."" [PMID:27738187, PMID:30728880]"
HP:0031011,"""Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV."" [PMID:8181179]"
HP:0031012,"""Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis."" [PMID:27500096]"
HP:0031013,"""A reduction of joint mobility resulting from changes involving the articular surfaces."" []"
HP:0031014,"""Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria."" [PMID:25105156]"
HP:0031015,"""Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices."" [PMID:25796481]"
HP:0031016,"""Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra."" [PMID:28384951]"
HP:0031017,"""Multiple defects in the atrial septum."" [PMID:18559707]"
HP:0031018,"""Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA)."" [NCIT:CL017969, PMID:26937300]"
HP:0031019,"""Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments."" []"
HP:0031020,"""A larger than normal amount or percentage of hematopoietic cells relative to marrow fat."" []"
HP:0031021,"""A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus]."" []"
HP:0031022,"""A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus]."" []"
HP:0031023,"""Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath."" [PMID:16702501]"
HP:0031024,"""A benign skin adnexal tumor of eccrine differentiation."" [NCIT:C27094, PMID:27294061]"
HP:0031025,"""A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible."" [NCIT:C27200, PMID:25069607]"
HP:0031026,"""The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature."" [PMID:3799723]"
HP:0031027,"""A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546."" [PMID:11694546, PMID:24339047]"
HP:0031028,"""Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level."" [PMID:15368719]"
HP:0031029,"""An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker."" [PMID:11274010]"
HP:0031030,"""An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer."" [PMID:16343244]"
HP:0031031,"""A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol."" [PMID:14749226]"
HP:0031032,"""A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity."" [PMID:14749226]"
HP:0031033,"""The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect."" [PMID:6876936]"
HP:0031034,"""A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier."" [PMID:20142246]"
HP:0031035,"""Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection."" []"
HP:0031036,"""A decreased blood concentration of growth hormone binding protein."" []"
HP:0031037,"""Blood concentration of insulin-like factor 3 (ILF3) is below normal limits."" [PMID:24640568]"
HP:0031038,"""Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa."" [PMID:21684558]"
HP:0031039,"""A type of maturation arrest in which only spermatogonia or spermatocytes are found."" [PMID:21684558]"
HP:0031040,"""A type of maturation arrest in which spermatids are detected without spermatozoa."" [PMID:21684558]"
HP:0031041,"""Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction."" []"
HP:0031042,"""Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry."" [PMID:26222562]"
HP:0031043,"""A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits."" [PMID:8387724]"
HP:0031044,"""A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5."" [PMID:18554391]"
HP:0031045,"""Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet)."" []"
HP:0031046,"""A developmental defect characterized by lack of a soft palate."" [PMID:11420024]"
HP:0031047,"""An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells."" [PMID:17403946]"
HP:0031048,"""An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells."" []"
HP:0031049,"""An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells."" [PMID:12057070]"
HP:0031050,"""An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells."" []"
HP:0031051,"""An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity."" []"
HP:0031052,"""Increased blood concentration of vascular endothelial growth factor (VEGF)."" []"
HP:0031053,"""Narrowing or constriction of the aorta localized to the region of the transverse aortic arch."" []"
HP:0031054,"""Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta."" [PMID:23909637]"
HP:0031055,"""A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch)."" []"
HP:0031056,"""A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery."" []"
HP:0031057,"""A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis."" []"
HP:0031058,"""Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure."" []"
HP:0031059,"""This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing."" [PMID:10362969]"
HP:0031060,"""This applies to an individual who needs help with dressing or needs to be completely dressed."" [PMID:10362969]"
HP:0031061,"""This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode."" []"
HP:0031062,"""Applies to an individual who needs help in moving from bed to chair or requires a complete transfer."" [PMID:10362969]"
HP:0031063,"""Applies to an individual who needs partial or total help with feeding or requires parenteral feeding."" []"
HP:0031064,"""Partial or total incontinence of bowel or bladder."" []"
HP:0031065,Abnormal ovarian morphology
HP:0031066,"""Any anomaly of ovarian function."" []"
HP:0031067,"""A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization."" [PMID:19562053]"
HP:0031069,"""Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range."" []"
HP:0031071,"""Any anomaly of the structure of an organ ofthe endocrine system."" []"
HP:0031072,"""Any anomaly of the function of the endocrine system."" []"
HP:0031073,"""An anomalous response to a test that is designed to probe the function of the endocrine system."" []"
HP:0031074,"""An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline."" []"
HP:0031075,"""An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level."" []"
HP:0031076,"""Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT)."" []"
HP:0031077,"""An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals."" []"
HP:0031078,"""Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test."" []"
HP:0031079,"""Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT)."" []"
HP:0031080,"""An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH)."" []"
HP:0031081,"""Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test."" []"
HP:0031082,"""Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test."" []"
HP:0031083,"""An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors."" []"
HP:0031084,"""An abnormally high increase in insulin levels following a glucagon stimulation test."" [PMID:21791970]"
HP:0031085,"""A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status."" [PMID:17138848]"
HP:0031086,"""Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels."" [PMID:12584384]"
HP:0031087,"""The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur."" []"
HP:0031088,"""Persistent vaginal dryness."" [PMID:21702402]"
HP:0031089,"""Swelling related to fluid accumulation within the palate."" []"
HP:0031090,"""Fingers appear swollen and plump owing to inflammation of the complete finger."" []"
HP:0031091,"""Toes appear swollen and plump owing to inflammation of the complete toe."" []"
HP:0031092,"""Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base)."" []"
HP:0031093,"""Any anomaly of the structure of the breast."" []"
HP:0031094,"""Any anomaly of the function of the breast."" []"
HP:0031095,"""Any anomaly of the structure of the humerus."" []"
HP:0031096,"""A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age."" []"
HP:0031097,"""Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland."" []"
HP:0031098,"""Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland."" []"
HP:0031099,"""Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone."" [PMID:12790766]"
HP:0031100,"""A reduced concentration of inhibin B in the blood."" [PMID:11720872]"
HP:0031101,"""Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases."" [PMID:22693172]"
HP:0031102,"""An elevation above the normal range of the antimullerian hormone in the circulation."" []"
HP:0031103,"""A reduction below the normal range of the antimullerian hormone in the circulation."" []"
HP:0031104,"""The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor."" [PMID:3280181]"
HP:0031105,"""Any anomaly of the structure of the uterus"" []"
HP:0031106,"""An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging."" [PMID:23771171]"
HP:0031107,"""Reduced width of the cross sectional diameter of the fibula."" []"
HP:0031108,"""A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements."" []"
HP:0031109,"""Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant."" []"
HP:0031110,"""As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure."" [PMID:19283655]"
HP:0031111,"""A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin."" []"
HP:0031117,"""A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis."" [PMID:17467434]"
HP:0031118,"""A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size."" [PMID:17467434, PMID:24827036]"
HP:0031119,"""A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure."" [PMID:17467434, PMID:24827036]"
HP:0031120,"""A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure."" []"
HP:0031121,"""A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure."" []"
HP:0031122,"""A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis."" [PMID:17467434]"
HP:0031123,"""Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis."" []"
HP:0031124,"""Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2)."" []"
HP:0031125,"""Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine."" []"
HP:0031126,"""Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration."" []"
HP:0031127,"""Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin."" []"
HP:0031128,"""Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP."" []"
HP:0031129,"""Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA."" []"
HP:0031130,"""Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore."" []"
HP:0031131,"""An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement."" [PMID:12814644]"
HP:0031132,"""Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry."" []"
HP:0031133,"""Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry."" []"
HP:0031134,"""A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum."" [PMID:22379596]"
HP:0031135,"""Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue)."" []"
HP:0031136,"""A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process."" []"
HP:0031137,"""Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material."" []"
HP:0031138,"""A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP)."" [PMID:22145138]"
HP:0031139,"""A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog."" []"
HP:0031140,"""An abnormal appearance of the liver or any of its components on sonography (ultrasound)."" []"
HP:0031141,"""Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device."" [PMID:21472065]"
HP:0031142,"""Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen)."" [PMID:21472065]"
HP:0031143,"""Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device."" [PMID:21472065]"
HP:0031144,"""The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography."" []"
HP:0031145,"""An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background)."" [PMID:26157918]"
HP:0031146,"""An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed."" [PMID:16776766]"
HP:0031150,"""Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions."" [PMID:24053995]"
HP:0031151,"""Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad."" [PMID:24053995]"
HP:0031152,"""Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction."" [PMID:24053995]"
HP:0031153,"""Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane."" [PMID:20513134, PMID:21921955]"
HP:0031154,"""Vitreous humor of the eye displaying beaded bundles of irregular diameters."" [PMID:20513134, PMID:21921955]"
HP:0031155,"""An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record."" []"
HP:0031156,"""Decreased platelet cell membrane concentration of glycoprotein Ib."" [PMID:11157507]"
HP:0031157,"""An abnormal connection between a carotid artery and the cavernous sinus."" [PMID:23571267]"
HP:0031158,"""An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility."" [PMID:22353005]"
HP:0031159,"""A reduction in the thickness of Descemet's membrane."" []"
HP:0031160,"""Impaired egress of mature neutrophils from bone marrow causing neutropenia."" [PMID:10607719, PMID:25662009]"
HP:0031161,"""An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS)."" [PMID:24123328]"
HP:0031162,"""Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars."" [PMID:27785002]"
HP:0031163,"""Reduced bone mineral density of the femur."" [PMID:19580459]"
HP:0031164,"""Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone."" [ORCID:0000-0003-0169-8159]"
HP:0031165,"""Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations)."" [PMID:27091239]"
HP:0031166,"""Involuntary, fine, continuous, undulating contractions of the eyelid."" []"
HP:0031167,"""Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium."" [PMID:19472919]"
HP:0031169,"""A pregnancy that extends to 42 weeks of gestation or beyond."" [PMID:24753906]"
HP:0031170,"""Fetal masculinization of female external genitalia."" []"
HP:0031171,"""A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck."" []"
HP:0031172,"""A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration."" []"
HP:0031173,"""A bony projection (spur, osteophyte) originating from the tibia."" []"
HP:0031174,"""An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood."" [PMID:12525546, PMID:12966518]"
HP:0031175,"""A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine."" []"
HP:0031176,"""A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine."" []"
HP:0031177,"""Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion."" [PMID:15668452]"
HP:0031178,"""Head is bent in the posterior direction in a permanent fashion."" [PMID:25288843]"
HP:0031179,"""Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated."" [PMID:12060874]"
HP:0031180,"""An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter)."" [PMID:18452799]"
HP:0031181,"""Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution."" [PMID:20054043]"
HP:0031185,"""An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP)."" []"
HP:0031186,"""An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone."" []"
HP:0031187,"""An abnormality of the concentration of pregnenolone in the blood."" [PMID:24849255]"
HP:0031188,"""A buildup of fluid that causes swelling in the soft tissues of the genital area."" []"
HP:0031189,"""A condition in which the affected individual cannot extend the wrist, which hangs flaccidly."" []"
HP:0031190,"""Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis."" []"
HP:0031191,"""Numerous lymphocytes surrounding blood vessels in the deep part of the dermis."" []"
HP:0031192,"""Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae)."" []"
HP:0031193,"""Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae)."" []"
HP:0031194,"""An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae)."" []"
HP:0031195,"""An increased number and density of the trabeculae in the apex (tip) of the left ventricle."" []"
HP:0031196,"""Reduced thickness of the outer, dense layer of the myocardium."" []"
HP:0031197,"""A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells)."" []"
HP:0031198,"""A type of cellular urinary cast composed of renal tubular epithelial cells."" []"
HP:0031199,"""A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells."" []"
HP:0031200,"""A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends."" [PMID:26079824]"
HP:0031201,"""A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented."" [PMID:26079824]"
HP:0031202,"""A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts."" [PMID:26079824]"
HP:0031203,"""A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses."" [PMID:26079824]"
HP:0031204,"""A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection."" [PMID:26079824]"
HP:0031205,"""Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins."" [PMID:22227072]"
HP:0031206,"""Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging."" [PMID:27058447]"
HP:0031207,"""A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size."" [NCIT:C3869, PMID:21191518]"
HP:0031208,"""An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones."" []"
HP:0031209,"""Reduction in the level of lipoprotein lipase in the blood."" [PMID:18194851, PMID:30725725]"
HP:0031210,"""A deviation from the normal concentration of hyaluronic acid in the blood."" [PMID:11861239]"
HP:0031211,"""An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol."" []"
HP:0031212,Abnormal circulating progesterone level
HP:0031213,"""An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase."" []"
HP:0031214,Decreased circulating dehydroepiandrosterone concentration
HP:0031215,"""A reduced concentration of dehydroepiandrosterone-sulfate in the blood."" []"
HP:0031216,"""An elevated concentration of progesterone in the blood."" []"
HP:0031217,"""Sudden feelings of warmth that are generally most pronounced over the face, neck and chest."" []"
HP:0031218,"""A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume."" []"
HP:0031219,"""A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker."" []"
HP:0031220,"""An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker."" []"
HP:0031221,"""Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker."" []"
HP:0031222,"""An elevated concentration of thyroxine-binding globulin (TBG) in the blood."" []"
HP:0031223,"""Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others."" []"
HP:0031224,"""Hyperplasia of the islets of Langerhans with a generalized distribution."" []"
HP:0031225,"""Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs."" []"
HP:0031226,"""An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography."" [PMID:12014928]"
HP:0031227,"""A teratoma arising in the nasopharyngeal region."" [PMID:23056797]"
HP:0031228,"""An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus."" [PMID:20082456]"
HP:0031229,"""The length of the incisura from the upper to lower border is greater than that observed in the average population."" [PMID:20082456]"
HP:0031230,"""The length of the incisura from the upper to lower border is less than that observed in the average population."" [PMID:20082456]"
HP:0031231,"""Width of the incisura from the anterior to posterior border less than that observed in the average population."" [PMID:20082456]"
HP:0031232,"""Breadth of the incisura from the anterior to posterior border greater than that observed in the average population."" [PMID:20082456]"
HP:0031233,"""A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape)."" [PMID:24706940]"
HP:0031234,"""A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin)."" []"
HP:0031235,"""Collection of neutrophils in the epidermis."" [PMID:17675728]"
HP:0031236,"""Collection of neutrophils in the dermis."" [PMID:17675728]"
HP:0031237,"""An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei."" [PMID:22938878]"
HP:0031238,"""A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules."" [PMID:19084976]"
HP:0031239,"""A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea."" []"
HP:0031240,"""A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea."" []"
HP:0031241,"""A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea."" []"
HP:0031242,"""Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins."" []"
HP:0031243,"""A reduction in the amount of very-low-density lipoprotein cholesterol in the blood."" []"
HP:0031244,"""Enlargement of the lip typically due to fluid buildup or inflammation."" [ORCID:0000-0001-5208-3432]"
HP:0031245,"""A cough that produces phlegm or mucus."" []"
HP:0031246,"""A cough that does not produce phlegm or mucus."" []"
HP:0031247,"""A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air."" [PMID:24219484]"
HP:0031248,"""Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand."" [ORCID:0000-0001-5208-3432]"
HP:0031249,"""A distortion of the sense of taste, often characterized by the sensation of a metallic taste."" [PMID:21075995]"
HP:0031250,"""A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation."" []"
HP:0031251,"""Any anomaly of a subclavian artery."" []"
HP:0031252,"""Abnormally increased caliber of the left subclavian artery."" []"
HP:0031253,"""Origin of the left subclavian artery from an anomalous anatomical location."" []"
HP:0031254,"""An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus."" [PMID:23125071]"
HP:0031255,"""An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus."" [PMID:23125071]"
HP:0031256,"""An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve."" [PMID:23125071]"
HP:0031257,"""An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla."" [PMID:17082338, PMID:23125071]"
HP:0031258,"""A state of sudden and severe confusion."" []"
HP:0031259,"""An inflammation of the ovary or ovaries."" []"
HP:0031260,"""A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally."" [PMID:18616733]"
HP:0031261,"""An abnormal growth that projects from the mucous membrane of the urinary bladder."" []"
HP:0031263,"""Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule."" []"
HP:0031264,"""A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule."" []"
HP:0031265,"""Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary."" [PMID:10662721, PMID:26918173]"
HP:0031266,"""An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier."" [PMID:23235479]"
HP:0031267,"""Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus."" [ORCID:0000-0001-5208-3432]"
HP:0031268,"""Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR)."" [ORCID:0000-0001-5208-3432]"
HP:0031269,"""Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression."" [ORCID:0000-0001-5208-3432, PMID:12121224]"
HP:0031270,"""Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR)."" [ORCID:0000-0001-5208-3432]"
HP:0031271,"""The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination."" []"
HP:0031272,"""Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery."" []"
HP:0031273,"""The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury."" []"
HP:0031274,"""A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures."" []"
HP:0031275,"""A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage"" [PMID:28238385]"
HP:0031276,"""A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism)."" [PMID:28785436]"
HP:0031278,"""Any structural anomaly of the thoracic duct."" []"
HP:0031279,"""An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH)."" [PMID:22016677]"
HP:0031280,"""An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test."" [PMID:22016677]"
HP:0031281,"""Inflammation of a salivary gland."" []"
HP:0031282,"""A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges."" [PMID:27171597]"
HP:0031283,"""The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice."" []"
HP:0031284,"""Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin."" []"
HP:0031285,"""Any structural anomaly in the areas surrounding the hair follicles."" []"
HP:0031286,"""Redness surrounding the hair follicles."" [PMID:24574696]"
HP:0031287,"""A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look."" []"
HP:0031288,"""The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones."" [PMID:18809899]"
HP:0031289,"""A papule with white color."" []"
HP:0031290,"""A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes."" []"
HP:0031291,"""Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed."" [PMID:14708109, PMID:21600032]"
HP:0031292,"""A circumscribed area of pus or necrotic debris in the skin."" []"
HP:0031293,"""Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe."" [PMID:8358096]"
HP:0031294,"""Underdeveloped, small right heart atrium."" []"
HP:0031295,"""Increase in size of the left atrium."" []"
HP:0031296,"""An abnormal increase in the thickness of the atrial septum."" [PMID:12664819]"
HP:0031297,"""Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion."" [PMID:19398672]"
HP:0031298,"""Abnormal increase in size of the coronary sinus."" []"
HP:0031299,"""An abnormal increase in magnitude of the pressure in the left atrium."" []"
HP:0031300,"""A deviation from the normal concentration of properdin in the blood."" [PMID:16301317]"
HP:0031301,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall."" [PMID:24402839, PMID:26811161]"
HP:0031302,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg."" []"
HP:0031303,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery."" []"
HP:0031304,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery."" []"
HP:0031305,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery."" []"
HP:0031306,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial)."" []"
HP:0031307,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery."" []"
HP:0031308,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery."" []"
HP:0031309,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery."" []"
HP:0031310,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery."" []"
HP:0031311,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery."" []"
HP:0031313,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta."" []"
HP:0031314,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery."" []"
HP:0031315,"""An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery."" []"
HP:0031316,"""A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle."" []"
HP:0031317,"""Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue."" []"
HP:0031318,"""A nonparallel arrangement of cardiac myocytes."" [PMID:7890275]"
HP:0031319,"""An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes."" [PMID:15066961, PMID:7626345]"
HP:0031320,"""An abnormal increase in the number of mitochondria per cardiac myocyte."" []"
HP:0031321,"""An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium)."" []"
HP:0031322,"""An increase in the number of lymphocytes in myocardial tissue."" []"
HP:0031323,"""An increase in the number of eosinophils in myocardial tissue."" []"
HP:0031324,"""The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin."" [PMID:26140040]"
HP:0031325,"""The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium."" []"
HP:0031326,"""A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry."" [PMID:28456755]"
HP:0031327,"""A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining."" [PMID:22949539]"
HP:0031328,"""A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces."" [PMID:10435025]"
HP:0031329,"""A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces."" [PMID:10435025]"
HP:0031330,"""An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels."" []"
HP:0031331,"""Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue."" []"
HP:0031332,"""Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris."" []"
HP:0031333,"""A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes."" [PMID:22311886, PMID:7788887]"
HP:0031334,"""Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes."" []"
HP:0031335,"""An anomaly of the structure of mitochondria within cardiomyocytes."" []"
HP:0031336,"""Abnormal localization of mitochondria within the nuclei of cardiomyocytes."" [PMID:22948484]"
HP:0031337,"""Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases."" [PMID:20167932]"
HP:0031338,"""Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes."" [PMID:25196244]"
HP:0031339,"""Anomalous staining of dystrophin in cardiomyocytes."" [PMID:23330010]"
HP:0031340,"""A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids."" []"
HP:0031341,"""An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach."" []"
HP:0031342,"""An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum."" []"
HP:0031343,"""An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum."" []"
HP:0031344,"""An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis."" [PMID:11292918]"
HP:0031345,"""An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon."" []"
HP:0031346,"""An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum."" []"
HP:0031347,"""An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus."" []"
HP:0031348,"""A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA."" [PMID:25082585]"
HP:0031349,"""A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery."" []"
HP:0031350,"""A malignant soft tissue neoplasm that arises from the heart."" [NCIT:C7723]"
HP:0031351,"""A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue."" [PMID:24932362]"
HP:0031352,"""An unpleasant sensation of tightness or pressure in the chest."" [ORCID:0000-0001-5208-3432, PMID:16990972, PMID:18405952]"
HP:0031353,"""Otitis media characterized by thick or sticky fluid behind the tympanic membrane."" [ORCID:0000-0001-5208-3432]"
HP:0031354,"""Difficulty initiating sleep, that is, increased sleep onset latency."" []"
HP:0031355,"""Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep."" []"
HP:0031356,"""A type of insomnia characterized by waking up (too) early in the morning."" []"
HP:0031357,"""A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli."" [PMID:23716835]"
HP:0031358,"""Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities)."" []"
HP:0031359,"""A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening)."" []"
HP:0031360,"""A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color."" []"
HP:0031361,"""Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images."" [PMID:28499424]"
HP:0031363,"""A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation)."" []"
HP:0031364,"""A purpuric lesion that is larger than 1 cm in diameter."" []"
HP:0031365,"""Purpura that is flat (non-palpable, not raised)."" []"
HP:0031366,"""A neoplasm that affects the hard palate, soft palate, or uvula."" [NCIT:C4402]"
HP:0031367,"""Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis)."" [PMID:18203204]"
HP:0031368,"""A hole (perforation) in the wall of the intestine."" []"
HP:0031369,"""A hole (perforation) in the wall of the colon."" [PMID:22334860]"
HP:0031370,"""A hole (perforation) in the wall of the small intestine."" []"
HP:0031371,"""A hole (perforation) in the wall of the rectum."" [PMID:28290145]"
HP:0031372,"""Increased muscle weakness upon exposure to cold temperatures."" [PMID:20803025]"
HP:0031373,"""Increased rigidity and reduced mobility of the tongue."" []"
HP:0031374,"""Reduced strength of the muscles that lift or otherwise move the foot at the ankle."" []"
HP:0031375,"""Applies to a sign or symptom that is difficult to treat or cure."" []"
HP:0031377,"""Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population."" []"
HP:0031378,"""Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population."" []"
HP:0031379,"""Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population."" []"
HP:0031380,"""Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population."" []"
HP:0031381,"""A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA)."" []"
HP:0031382,"""A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3."" []"
HP:0031383,"""Abnormal amount of a protein that is normally present on the cell surface of lymphocytes."" []"
HP:0031384,"""A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes."" []"
HP:0031385,"""The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus."" [PMID:27107657]"
HP:0031386,"""The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter."" [PMID:27107657]"
HP:0031387,"""The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow."" [PMID:27107657]"
HP:0031388,"""The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus."" [PMID:27107657]"
HP:0031389,"""A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface."" []"
HP:0031390,"""A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface."" []"
HP:0031391,"""An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface."" []"
HP:0031392,"""Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells."" []"
HP:0031393,"""Any abnormality in the proportion of CD8 T cells relative to the total number of T cells."" []"
HP:0031394,"""Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes."" [PMID:29095912]"
HP:0031396,"""Any abnormality in the proportion of naive T cells relative to the total number of T cells."" [PMID:12133935]"
HP:0031397,"""An abnormally decreased proportion of naive T cells relative to the total number of T cells."" [HPO:probinson, PMID:12133935]"
HP:0031398,"""An abnormally increased proportion of naive T cells relative to the total number of T cells."" [PMID:12133935]"
HP:0031399,"""An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells."" [PMID:16285891, PMID:22294241]"
HP:0031401,"""An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells."" []"
HP:0031402,"""Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus."" []"
HP:0031403,"""Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors."" [PMID:11911826]"
HP:0031404,"""An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory)."" []"
HP:0031405,"""A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]."" [NCIT:C27273]"
HP:0031406,"""Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription."" []"
HP:0031407,"""A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription."" []"
HP:0031408,"""An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain)."" [PMID:15371947, PMID:18684881, PMID:22222639]"
HP:0031409,"""Any anomaly of lymphocyte function."" []"
HP:0031410,"""An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells."" [PMID:19278419]"
HP:0031411,"""Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order."" []"
HP:0031412,Abnormal telomere morphology
HP:0031413,"""An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur."" []"
HP:0031414,"""An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3."" [RGD:sjwang]"
HP:0031415,"""An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3."" [PMID:24246681, RGD:sjwang]"
HP:0031416,"""Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose."" []"
HP:0031417,"""Increased discharge of mucus from the nose."" []"
HP:0031418,"""Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages."" [PMID:17973940]"
HP:0031419,"""A decreased concentration of sex-hormone binding protein in the circulation."" [RGD:sjwang]"
HP:0031420,"""A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity."" [ORCiD:0000-0002-2244-7917, PMID:25323644, PMID:28611647]"
HP:0031421,"""Reduced size of the superior frontal portion of the cerebral cortex."" [RGD:gth]"
HP:0031422,"""Any structural anomaly of the cortex of the cerebellum."" []"
HP:0031423,"""Reduced size of the cerebellar cortex."" [RGD:gth]"
HP:0031424,"""A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover."" [PMID:15309383, RGD:sjwang]"
HP:0031425,"""A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation."" [RGD:sjwang]"
HP:0031426,"""A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation."" [RGD:sjwang]"
HP:0031427,"""A deviation from the normal concentration of osteocalcin in the blood circulation."" [PMID:23737779, PMID:25577163, RGD:sjwang]"
HP:0031428,"""An elevated level of osteocalcin in the blood."" [RGD:sjwang]"
HP:0031429,"""A reduced level of osteocalcin in the blood."" [RGD:sjwang]"
HP:0031430,"""The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones."" []"
HP:0031431,"""Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others."" []"
HP:0031432,"""Repeated and inappropriate mechanical repetition of actions."" []"
HP:0031433,"""A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others."" [PMID:32471365]"
HP:0031434,"""An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm."" []"
HP:0031435,"""A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice."" []"
HP:0031436,"""A speech pattern characterized by abnormally elevated variability of the pitch of the voice."" []"
HP:0031437,"""Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants."" [ORCID:0000-0002-6387-4317]"
HP:0031438,"""A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood."" [PMID:26761949]"
HP:0031439,"""A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels."" [PMID:12855585, PMID:23555012]"
HP:0031441,"""Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach."" []"
HP:0031442,"""Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve."" []"
HP:0031443,"""Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve."" []"
HP:0031444,"""An increase in the diameter of the ring (annulus) of the tricuspid valve."" [PMID:3958362]"
HP:0031445,"""A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth."" []"
HP:0031446,"""Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion."" []"
HP:0031447,"""Multiple pigmented macules located on the skin of the penis."" []"
HP:0031448,"""Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles."" []"
HP:0031449,"""Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals."" []"
HP:0031450,"""A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge."" []"
HP:0031451,"""An abnormal increase in the amount of subcutaneous fat in the legs."" [PMID:24788242]"
HP:0031452,"""Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques."" [PMID:22356325]"
HP:0031453,"""Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions."" [PMID:22356325]"
HP:0031454,"""A cystic lesions that forms a benign tumor of an apocrine sweat gland."" [NCIT:C43342, PMID:17406184]"
HP:0031455,"""A gangioleneuroma originating from sympathetic ganglion cells in the abdomen."" []"
HP:0031456,"""A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube)."" []"
HP:0031457,"""Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality."" [PMID:18195376]"
HP:0031458,"""An inflammation of the adenoid tissue."" []"
HP:0031459,"""A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms."" [NCIT:C3377]"
HP:0031460,"""A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]."" [NCIT:C4882]"
HP:0031461,"""A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy."" [PMID:27298930]"
HP:0031462,"""Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue."" []"
HP:0031463,"""A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia."" [NCIT:C5344, PMID:27134598]"
HP:0031464,"""The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls."" []"
HP:0031465,"""A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products."" [PMID:26006236]"
HP:0031466,"""A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning."" [PMID:23902698]"
HP:0031467,"""A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states."" [PMID:23902698]"
HP:0031468,"""Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy."" [PMID:23902698]"
HP:0031469,"""Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself."" []"
HP:0031472,"""Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger."" [PMID:23902698]"
HP:0031473,"""Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults."" [PMID:23902698]"
HP:0031474,"""A benign cartilaginous tumors of the lung."" [PMID:27602219]"
HP:0031475,"""There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma."" [ORCID:0000-0002-1735-8178, PMID:17805245, PMID:22528274, PMID:26336950]"
HP:0031476,"""Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells)."" []"
HP:0031478,"""Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach."" []"
HP:0031479,"""An increase in the diameter of the ring (annulus) of the mitral valve."" []"
HP:0031480,"""Any structural anomaly of the leaflets (also known as cusps) of the mitral valve."" []"
HP:0031481,"""Any functional anomaly of the mitral valve."" []"
HP:0031482,"""A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle."" []"
HP:0031483,"""Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography."" [PMID:8077532]"
HP:0031484,"""A form of hemolytic anemia that can be triggered by cold temperatures."" []"
HP:0031485,"""The formation of new bone along the cortex and underneath the periosteum of a bone."" []"
HP:0031486,"""An anomaly of blood vessels located in the lip."" []"
HP:0031487,"""A vascular malformation located in the lip that is characterized by\nectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis."" []"
HP:0031488,"""A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus."" [PMID:26618117]"
HP:0031489,"""A vascular malformation located in the lip that is related to abnormal vascular morphogenesis."" [PMID:26618117]"
HP:0031490,"""A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia."" [PMID:26618117]"
HP:0031491,"""Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep."" [PMID:1918335, PMID:28654799]"
HP:0031492,"""A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]."" [NCIT:C3709]"
HP:0031493,"""A tumor that arises from a gland cell."" [NCIT:C7132]"
HP:0031494,"""Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma."" [PMID:24777667]"
HP:0031495,Mucinous neoplasm
HP:0031496,"""Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma."" [NCIT:C41247, PMID:21128317]"
HP:0031497,"""A subtype of colorectal carcinoma with mucin lakes."" []"
HP:0031498,"""A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor."" [PMID:28501848]"
HP:0031499,"""An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles."" [PMID:23439060]"
HP:0031500,"""An abnormal enlargement or swelling in the abdomen."" []"
HP:0031501,"""An abnormal enlargement or swelling in the pelvic region."" []"
HP:0031502,"""A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]."" [NCIT:C3422]"
HP:0031503,"""Waking up at night gasping for breath."" []"
HP:0031504,"""Urine has an increased amount of frothy fine bubbles."" []"
HP:0031505,"""A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)."" []"
HP:0031506,"""An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)."" []"
HP:0031507,"""A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)."" []"
HP:0031508,"""Any deviation from the normal range of the hormones produced by the thyroid gland."" [PMID:28932413]"
HP:0031509,"""Abnormally dry skin in the area of the nipple of the breast."" []"
HP:0031510,"""A transverse linear fissure (crease) in the lobule of the ear."" []"
HP:0031511,"""Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees."" [PMID:2713193]"
HP:0031512,Abnormal cutaneous collagen fibril morphology
HP:0031513,"""Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands."" []"
HP:0031514,"""An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells."" [PMID:26544946]"
HP:0031515,"""Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells."" []"
HP:0031516,"""Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage."" [PMID:27273344, PMID:32473092]"
HP:0031517,"""A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms."" [PMID:24574658]"
HP:0031518,"""Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above."" [PMID:24574560]"
HP:0031519,"""An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy."" [PMID:3224502]"
HP:0031520,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region."" []"
HP:0031521,"""A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm."" [NCIT:C7735, PMID:11444201]"
HP:0031522,"""A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm."" [NCIT:C6344]"
HP:0031523,"""A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)"" [NCIT:C5932, PMID:20181155]"
HP:0031524,"""A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct."" [NCIT:C3908]"
HP:0031525,"""Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals."" [NCIT:C3146, PMID:24376301]"
HP:0031526,"""Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane."" []"
HP:0031527,"""Edema/fluid accumulating within the retinal layers."" []"
HP:0031528,"""Deposits accumulating between the outer retina and the retinal pigment epithelium."" []"
HP:0031529,"""Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution."" []"
HP:0031530,"""Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci."" []"
HP:0031531,"""Deposits accumulating between the retinal pigment epithelium and Bruch's membrane."" []"
HP:0031532,"""Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus."" []"
HP:0031533,"""Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci."" []"
HP:0031534,"""An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal."" [PMID:24358988]"
HP:0031535,"""Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution."" []"
HP:0031536,"""Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA)."" [PMID:27358682]"
HP:0031537,"""An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA)."" [PMID:27358682]"
HP:0031538,"""Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments."" [PMID:1097542]"
HP:0031539,"""Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy."" [PMID:24160488]"
HP:0031540,"""Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy."" [PMID:24160488]"
HP:0031541,"""Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy."" [PMID:24160488]"
HP:0031542,"""Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner."" [PMID:18974994]"
HP:0031544,"""An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency."" []"
HP:0031545,"""Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells."" [PMID:22001765]"
HP:0031546,"""Any anomaly of the progression of electrical impulses through the heart."" []"
HP:0031547,"""Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)."" []"
HP:0031548,"""A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma."" [NCIT:C4469, PMID:25387502]"
HP:0031549,"""Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis."" [PMID:24346899]"
HP:0031550,"""Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules."" []"
HP:0031551,"""Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry."" []"
HP:0031552,"""Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry."" []"
HP:0031553,"""Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry."" []"
HP:0031554,"""Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry."" []"
HP:0031555,"""Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry."" []"
HP:0031556,"""Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry."" []"
HP:0031557,"""Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry."" []"
HP:0031558,"""Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry."" []"
HP:0031559,"""Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry."" []"
HP:0031560,"""An abnormal communication between coronary artery and a cardiac chamber."" [PMID:26240737]"
HP:0031561,"""An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle."" [MP:0011684]"
HP:0031562,"""A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch."" [PMID:22073330]"
HP:0031563,"""An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation."" [MP:0011656]"
HP:0031564,"""An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism)."" [PMID:21731561]"
HP:0031565,"""An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements."" [Fyler:3817]"
HP:0031566,"""Any structural anomaly of the pulmonary valve leaflets."" [Fyler:1652]"
HP:0031567,"""Any structural anomaly of the aortic valve leaflets."" [Fyler:1480]"
HP:0031568,"""An abnormally increased thickness of a leaflet of the aortic valve."" [Fyler:1486, PMID:9360334]"
HP:0031569,"""A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva."" [Fyler:1484, PMID:2274446]"
HP:0031570,"""A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension."" [PMID:2503273]"
HP:0031571,"""A type of facial cleft located near to but not directly on the midline of the face."" []"
HP:0031572,"""As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly."" [PMID:2503273]"
HP:0031573,"""As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening."" [PMID:2503273]"
HP:0031574,"""A facial cleft characterized by involvement of the orbit."" [PMID:2503273]"
HP:0031575,"""As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced."" [PMID:2503273]"
HP:0031576,"""The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly."" [PMID:2503273]"
HP:0031577,"""The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium."" [PMID:2503273]"
HP:0031578,"""A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid."" [PMID:2503273]"
HP:0031579,"""The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate."" [PMID:2503273]"
HP:0031580,"""The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae."" [PMID:2503273]"
HP:0031581,"""This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa."" [PMID:2503273]"
HP:0031582,"""In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric."" [PMID:2503273]"
HP:0031583,"""An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal."" [PMID:2503273]"
HP:0031584,"""There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate."" [PMID:2503273]"
HP:0031585,"""There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above."" [PMID:2503273]"
HP:0031586,"""This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan."" [PMID:2503273]"
HP:0031587,"""A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis."" [PMID:22529554]"
HP:0031588,"""A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events."" []"
HP:0031589,"""Frequent thinking about or preoccupation with killing oneself."" []"
HP:0031590,"""Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache."" []"
HP:0031591,"""An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava."" [PMID:12484622]"
HP:0031592,"""Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia."" [Fyler:0102, Fyler:102, MP:0011253]"
HP:0031593,"""An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds."" [PMID:23677846]"
HP:0031594,"""A reduction in voltage of the PR segment below baseline."" []"
HP:0031595,"""Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria."" []"
HP:0031596,"""An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric."" []"
HP:0031597,"""An increase in voltage of the PR segment above baseline."" []"
HP:0031598,"""V-shaped cut (notch) in the middle of the P wave."" []"
HP:0031599,"""A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II."" []"
HP:0031600,"""P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves."" []"
HP:0031601,"""The presence of tall, peaked P waves in EKG lead II."" []"
HP:0031602,"""An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary \nbeating."" []"
HP:0031603,"""An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes."" []"
HP:0031604,"""A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse."" [PMID:21339912]"
HP:0031605,"""Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve."" []"
HP:0031606,"""Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels."" [PMID:6169833]"
HP:0031607,"""Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position."" [PMID:21505577, Sanford:krageth]"
HP:0031609,"""Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium."" [ORCID:0000-0003-0986-4123, PMID:24158023]"
HP:0031610,"""Shoulder dislocation occurring repeated times."" [PMID:29197942, Sanford:krageth]"
HP:0031611,"""A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer."" [PMID:17229799]"
HP:0031613,"""Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus."" []"
HP:0031614,"""A notch or cleft of the lower part of the retina."" []"
HP:0031615,"""Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber."" []"
HP:0031616,"""An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber."" [PMID:16196117]"
HP:0031618,"""Faint anterior chamber flare."" [PMID:16196117]"
HP:0031619,"""Moderate anterior chamber flare (iris and lens details clear)."" [PMID:16196117]"
HP:0031620,"""Marked anterior chamber flare (iris and lens details hazy)."" [PMID:16196117]"
HP:0031621,"""Intense anterior chamber flare (fibrin/plastic aqueous)."" [PMID:16196117]"
HP:0031622,"""An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result."" [ORCID:0000-0003-0986-4123, PMID:28841851]"
HP:0031623,"""Drooping of the upper eyebrow below the superior orbital rim."" []"
HP:0031624,"""A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters."" []"
HP:0031625,"""A contained rupture of an artery with a disruption in all 3 layers of the arterial wall."" [PMID:17515479]"
HP:0031626,"""Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve."" []"
HP:0031627,"""Pathological deposition of calcium salts in the globus pallidus."" []"
HP:0031628,"""Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it."" [ORCID:0000-0001-5835-5515, PMID:25187745]"
HP:0031629,"""Reduced ability to walk in a straight line while placing the feet heel to toe."" []"
HP:0031630,"""Any structural anomaly located between the pleura and the chest wall."" []"
HP:0031631,"""So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space."" [PMID:23220902]"
HP:0031632,"""Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery."" []"
HP:0031633,"""The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus."" [MP:0011745]"
HP:0031634,"""The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery."" [PMID:27974985]"
HP:0031635,"""The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery."" [PMID:18694519]"
HP:0031636,"""The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta."" [PMID:12601459]"
HP:0031637,"""Absence of the normal opening of the coronary ostium from which the right main coronary artery originates."" []"
HP:0031638,"""The left anterior descending artery (LAD) branches off from the pulmonary artery."" [PMID:27358682]"
HP:0031639,"""The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava."" []"
HP:0031640,"""Any structural anomaly of the radial artery."" []"
HP:0031643,"""A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall."" []"
HP:0031644,"""A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall"" []"
HP:0031645,"""An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall."" []"
HP:0031646,"""A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall."" []"
HP:0031647,"""An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall."" []"
HP:0031648,"""A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture."" []"
HP:0031649,"""Tearing of the aortic wall generally associated with profuse internal bleeding."" []"
HP:0031650,"""Any functional defect of the mitral or tricuspid valve."" []"
HP:0031651,"""Any functional defect of the tricuspid valve."" []"
HP:0031652,Abnormal aortic valve physiology
HP:0031653,"""Any functional abnormality of a cardiac valve."" []"
HP:0031654,"""Any functional anomaly of the pumonary valve."" []"
HP:0031655,"""The presence of an aortic valve with four instead of the normal three cusps (flaps)."" [PMID:27390747]"
HP:0031656,"""Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole."" [PMID:22847594]"
HP:0031657,"""Any abnormal noise generated by the beating heart."" []"
HP:0031658,"""The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients."" []"
HP:0031659,"""The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction."" []"
HP:0031660,"""Abnormally increased volume of the first heart sound."" []"
HP:0031661,"""Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration."" []"
HP:0031662,"""Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration."" []"
HP:0031663,"""Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern)."" []"
HP:0031664,"""A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2."" []"
HP:0031665,"""A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern."" []"
HP:0031666,"""A murmur that occurs in the latter phase of systole."" []"
HP:0031667,"""A heart murmur that occurs during the entire systolic phase from S1 to S2."" []"
HP:0031668,"""A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1."" []"
HP:0031669,"""A murmur that occurs in the middle of the diastolic phase."" []"
HP:0031670,"""A murmur that occurs in both systole and diastole."" []"
HP:0031671,"""Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative."" [PMID:28835836]"
HP:0031672,"""A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1."" [PMID:28835836]"
HP:0031673,"""A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction."" [PMID:29234357]"
HP:0031674,"""A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction."" []"
HP:0031675,"""A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG)."" [PMID:29184614]"
HP:0031676,"""A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so)."" []"
HP:0031677,"""A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat)."" []"
HP:0031678,"""A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus."" [PMID:8172861]"
HP:0031679,"""Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells)."" []"
HP:0031680,"""Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid."" [PMID:8172861]"
HP:0031681,"""Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions."" [PMID:8172861]"
HP:0031682,"""Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant."" []"
HP:0031683,"""Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes."" [PMID:7648691]"
HP:0031684,"""An atherosclerotic lesion located in the renal artery."" []"
HP:0031685,"""Abnormal level of metabolite or other abnormal analyte result in a stool test."" []"
HP:0031686,"""An abnormally elevated amount of alpha1-antitrypsin in the feces."" []"
HP:0031687,Abnormally loud pulmonic component of the second heart sound
HP:0031688,"""Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts."" [PMID:26791933]"
HP:0031689,"""The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei."" [PMID:27127725]"
HP:0031690,"""An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system."" [HPO:probinson]"
HP:0031691,"""An unusually severe viral infection."" [PMID:21960712]"
HP:0031692,"""An unusually severe infection by cytomegalovirus."" [PMID:12588074]"
HP:0031693,"""An unusually severe Epstein Barr virus (EBV) infection."" []"
HP:0031694,"""An unusually severe adenovirus infection."" [PMID:24678403]"
HP:0031695,"""An unusually severe infection by a parainfluenza virus."" []"
HP:0031696,"""A viral infection that fails to be contained by the immune sytem and spreads throughout the body."" [PMID:28476145]"
HP:0031697,"""A dissemination viral infection caused by a live attenuated vaccine virus."" [PMID:25452596]"
HP:0031699,"""Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body."" []"
HP:0031700,"""A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host."" []"
HP:0031701,"""The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye."" []"
HP:0031702,"""The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye."" []"
HP:0031703,"""Any structural anomaly of the ear."" []"
HP:0031704,"""Any functional anomaly of the ear."" []"
HP:0031705,"""A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem."" []"
HP:0031706,"""A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement."" []"
HP:0031707,"""A tendency to turn the face to the right to compensate for a limitation of eye movement."" []"
HP:0031708,"""A tendency to turn the face to the left to compensate for a limitation of eye movement."" []"
HP:0031709,"""A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement."" []"
HP:0031710,"""A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement."" []"
HP:0031711,"""An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric)."" [PMID:12751282]"
HP:0031713,"""A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times."" [ORCID:0000-0003-0986-4123]"
HP:0031714,"""A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent."" [ORCID:0000-0003-0986-4123]"
HP:0031715,"""An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant)."" [ORCID:0000-0003-0986-4123]"
HP:0031716,"""A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle."" [ORCID:0000-0003-0986-4123]"
HP:0031717,"""A type of exotropia in which either eye may be used for fixation."" [ORCID:0000-0003-0986-4123]"
HP:0031718,"""Exotropia in an individual who has previously had esotropia or esophoria."" [ORCID:0000-0003-0986-4123]"
HP:0031719,"""Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits."" [ORCID:0000-0003-0986-4123]"
HP:0031720,"""Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation."" []"
HP:0031721,"""A type of divergent strabismus (exotropia) that develops in a poorly seeing eye."" [ORCID:0000-0003-0986-4123]"
HP:0031722,"""An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved."" [ORCID:0000-0003-0986-4123]"
HP:0031723,"""Convergent squint which follows loss or impairment of vision."" [ORCID:0000-0003-0986-4123]"
HP:0031724,"""A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs."" [ORCID:0000-0003-0986-4123]"
HP:0031725,"""A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards."" [ORCID:0000-0003-0986-4123]"
HP:0031726,"""A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other."" [ORCID:0000-0003-0986-4123]"
HP:0031727,"""A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other."" [UManchster:psergouniotis]"
HP:0031728,"""A form of hypermetropia with not more than +2.00 diopters."" [ORCID:0000-0003-0986-4123]"
HP:0031729,"""A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters."" [ORCID:0000-0003-0986-4123]"
HP:0031730,"""A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye."" [ORCID:0000-0003-0986-4123, PMID:24113300]"
HP:0031731,"""Increased lacrimation owing to overproduction of tears."" [ORCID:0000-0003-0986-4123]"
HP:0031732,"""A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance."" [ORCID:0000-0003-0986-4123]"
HP:0031733,"""A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease)."" [ORCID:0000-0003-0986-4123]"
HP:0031734,"""A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion."" [ORCID:0000-0003-0986-4123]"
HP:0031736,"""An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle."" [ORCID:0000-0003-0986-4123]"
HP:0031737,"""Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid."" [ORCID:0000-0003-0986-4123]"
HP:0031738,"""A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe."" [ORCID:0000-0003-0986-4123]"
HP:0031739,"""A functional anomaly of the inferior or superior oblique muscle."" [ORCID:0000-0003-0986-4123]"
HP:0031740,"""A functional anomaly of the medial rectus muscle or lateral rectus muscle."" []"
HP:0031741,"""Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy."" [ORCID:0000-0003-0986-4123]"
HP:0031742,"""Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy."" [ORCID:0000-0003-0986-4123]"
HP:0031743,"""Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist."" [ORCID:0000-0003-0986-4123]"
HP:0031744,"""Decreased strength of the superior rectus muscle."" []"
HP:0031745,"""Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist."" [ORCID:0000-0003-0986-4123]"
HP:0031746,"""Mechanical limitation of the range of movement of the superior rectus muscle."" [ORCID:0000-0003-0986-4123]"
HP:0031747,"""Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy."" [ORCID:0000-0003-0986-4123]"
HP:0031748,"""A functional anomaly of the superior or inferior rectus muscle."" [ORCID:0000-0003-0986-4123]"
HP:0031749,"""A functional anomaly of the lateral rectus muscle."" []"
HP:0031750,"""Decreased strength (ability to move) of the lateral rectus muscle."" [ORCID:0000-0003-0986-4123]"
HP:0031751,"""Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy."" [ORCID:0000-0003-0986-4123]"
HP:0031752,"""Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist."" []"
HP:0031753,"""Decreased strength of the medial rectus muscle."" [ORCID:0000-0003-0986-4123]"
HP:0031754,"""Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist."" []"
HP:0031755,"""A functional anomaly of a vertical or horizontal rectus muscle."" [ORCID:0000-0003-0986-4123]"
HP:0031756,"""Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy."" [ORCID:0000-0003-0986-4123]"
HP:0031757,"""Mechanical limitation of the range of movement of the medial rectus muscle."" [ORCID:0000-0003-0986-4123]"
HP:0031758,"""Mechanical limitation of the range of movement of the lateral rectus muscle."" []"
HP:0031759,"""A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times)."" [ORCID:0000-0003-0986-4123]"
HP:0031760,"""A form of esotropia in which the angle of deviation is not affected by accommodative effort."" [ORCID:0000-0003-0986-4123]"
HP:0031761,"""Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction."" [UManchester:psergouniotis]"
HP:0031762,"""An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging."" [UManchester:psergouniotis]"
HP:0031763,"""Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle."" [ORCID:0000-0003-0986-4123]"
HP:0031764,"""Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction."" [ORCID:0000-0003-0986-4123]"
HP:0031765,"""A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses."" [ORCID:0000-0003-0986-4123]"
HP:0031766,"""An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio."" [ORCID:0000-0003-0986-4123]"
HP:0031767,"""Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection."" [ORCID:0000-0003-0986-4123]"
HP:0031768,"""Fixation of an object in the area adjacent to the fovea."" [ORCID:0000-0003-0986-4123]"
HP:0031769,"""Fixation of an object in a peripheral area of the retina."" [ORCID:0000-0003-0986-4123]"
HP:0031770,"""A type of epicanthus in which a medial vertical fold is present between upper and lower lids."" [ORCID:0000-0003-0986-4123]"
HP:0031771,"""A type of epicanthus in which a primarily upper lid fold is present."" [ORCID:0000-0003-0986-4123]"
HP:0031772,"""Any structural anomaly of the posterior circulating artery (PCOM)."" []"
HP:0031773,"""A widening (ballooning) localized in the wall of the posterior communicating artery."" []"
HP:0031774,"""A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery."" [PMID:9848859]"
HP:0031775,"""An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them."" [ORCID:0000-0003-0986-4123]"
HP:0031776,"""A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia)."" [ORCID:0000-0003-0986-4123]"
HP:0031777,"""A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation."" [ORCID:0000-0003-0986-4123]"
HP:0031778,"""A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other."" [ORCID:0000-0003-0986-4123]"
HP:0031779,"""A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other."" []"
HP:0031780,"""A type of ascites in which there are large numbers of eosinophils in the ascitis fluid."" [PMID:27721930]"
HP:0031781,"""A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC."" [ORCID:0000-0003-0986-4123, PMID:9602615]"
HP:0031782,"""A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test."" [ORCID:0000-0003-0986-4123, PMID:9602615]"
HP:0031783,"""A developmental defect in which the coronary sinus fails to form."" [HPO:nvasilevsky, PMID:24551710]"
HP:0031784,"""Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise."" [MP:0009867]"
HP:0031785,"""An abnormality in voluntary or involuntary eyelid movements or their control."" []"
HP:0031786,"""Transient eyelid retraction during refixation from down to straight ahead."" [ORCID:0000-0003-0986-4123]"
HP:0031787,"""Astigmatism in which the refractive power of the vertical meridian is the greatest."" [ORCID:0000-0003-0986-4123]"
HP:0031788,"""Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest)."" [ORCID:0000-0003-0986-4123]"
HP:0031789,"""Astigmatism with more plus power on the horizontal meridian."" []"
HP:0031790,"""A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted)."" [ORCID:0000-0003-0986-4123]"
HP:0031791,"""A type of astigmatism related to an irregular shape of the lens."" []"
HP:0031792,"""A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision."" []"
HP:0031793,"""An increased concentration of leptin in the blood."" [RGD:sjwang]"
HP:0031794,"""A decrease below the normal concentration of glycerol in the blood."" []"
HP:0031795,"""Any deviation from the normal concentration of glycerol in the blood."" []"
HP:0031796,"""Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present."" []"
HP:0031797,"""The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual."" []"
HP:0031798,"""Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100."" [ORCID:0000-0001-5356-4174]"
HP:0031799,"""Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease."" [ORCID:0000-0001-5356-4174]"
HP:0031800,"""An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism."" [ORCID:0000-0001-5356-4174]"
HP:0031801,"""Any functional anomaly of the vocal cord."" []"
HP:0031803,"""Bleeding within the fundus of the eye."" []"
HP:0031804,Premacular hemorrhage
HP:0031805,"""A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina."" [UManchester:psergouniotis]"
HP:0031806,"""Any deviation from the normal number of basophils per volume in the blood circulation."" []"
HP:0031807,"""An abnormally increased count of basophils per volume in the blood circulation."" []"
HP:0031808,"""An abnormally reduced count of basophils per volume in the blood circulation."" []"
HP:0031809,"""Shortening of the fourth and fifth metacarpals when the fist is clenched."" [Gene42:pbuczkowicz, PMID:22075011, PMID:22629539]"
HP:0031810,"""The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides."" [OHSU:jpgourdine, PMID:8027366]"
HP:0031811,"""Presence of conjugated bilirubin in the urine."" [OHSU:jpgourdine]"
HP:0031812,"""Presence of nitrites in the urine."" [OHSU:jpgourdine, PMID:27377945]"
HP:0031813,"""An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon."" [PMID:21922029]"
HP:0031814,"""Repetition of one's own words or phrases."" [PMID:27527544]"
HP:0031815,"""A functional anomaly of the mouth (which is also known as the oral cavity)."" []"
HP:0031816,"""Any structural anomaly of the mouth, which is also known as the oral cavity."" []"
HP:0031817,"""An abnormally decreased concentration of parathyroid hormone."" [PMID:1302009, RGD:gthayman]"
HP:0031818,"""A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement."" []"
HP:0031819,"""Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement."" [ORCID:0000-0001-5356-4174, PMID:12872269]"
HP:0031820,"""Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement."" [PMID:12872269, RGD:gthayman]"
HP:0031821,"""Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate."" [RGD:sjwang]"
HP:0031822,"""Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate."" [RGD:sjwang]"
HP:0031823,"""Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate."" [RGD:sjwang]"
HP:0031824,"""Liver mast cell infiltration."" [HPO:probinson, PMID:25009756]"
HP:0031825,"""Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk."" [PMID:23625316, PMID:27770207]"
HP:0031826,"""Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur)."" []"
HP:0031827,"""Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus."" [PMID:12531937, PMID:24785227]"
HP:0031828,"""An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons."" []"
HP:0031829,"""Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex."" [PMID:12891505]"
HP:0031830,"""A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea."" [PMID:24311926]"
HP:0031831,"""A reduced concentration of zinc in the blood."" [PMID:16518702, RGD:gthayman]"
HP:0031832,"""Overshoot of downward saccadic eye movements."" []"
HP:0031833,"""Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object."" []"
HP:0031834,"""Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus."" [MP:0010635, PMID:26467877]"
HP:0031835,"""An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide."" [PMID:25276767, RGD:gthayman]"
HP:0031836,"""Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide."" [RGD:gthayman]"
HP:0031837,"""Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide."" [PMID:25276767, RGD:gthayman]"
HP:0031838,"""Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids."" []"
HP:0031840,"""The presence of a xenobiotic in urine."" []"
HP:0031841,"""Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine."" []"
HP:0031842,"""Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma."" [MP:0004038]"
HP:0031843,"""Abnormal slowness of thought processes."" [PMID:25850732]"
HP:0031844,"""A sense of intense joy or happiness that is beyond what would be expected under the given circumstances."" [PMID:25834762]"
HP:0031845,"""Any deviation from the normal sexual drive or desire for sexual activity."" []"
HP:0031846,"""A break or crush injury of the thigh bone (femur)."" []"
HP:0031847,"""Reduced ability to walk (ambulate) in a backwards direction."" [HPO:probinson]"
HP:0031848,"""An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor."" [PMID:24746291]"
HP:0031849,"""A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night."" []"
HP:0031850,"""Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood."" []"
HP:0031851,"""A reduction below the normal ratio of the volume of red blood cells to the total volume of blood."" []"
HP:0031853,"""Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other."" [PMID:21731561]"
HP:0031854,"""A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures."" [PMID:21731561]"
HP:0031855,"""A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures."" [PMID:21731561]"
HP:0031856,"""An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward."" [PMID:21956287]"
HP:0031857,"""Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus."" [PMID:28665309]"
HP:0031858,"""Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus)."" [PMID:25368745]"
HP:0031860,"""Any abnormality in the variability of the time interval between successive heartbeats."" [PMID:8598068]"
HP:0031861,"""Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle."" [ORCID:0000-0001-5356-4174, PMID:8598068]"
HP:0031862,"""Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle."" [ORCID:0000-0001-5356-4174, PMID:8598068]"
HP:0031863,"""The presence of an infectious agent in the blood circulation."" []"
HP:0031864,"""Presence of viable bacteria in the blood."" []"
HP:0031865,"""Any functional anomaly of the liver."" [HPO:probinson]"
HP:0031866,"""Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife."" [HPO:probinson]"
HP:0031867,"""Increased passive stiffness or tightness of the neck musculature."" []"
HP:0031868,"""Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected."" [ORCID:0000-0002-6601-2165, PMID:24607223]"
HP:0031869,"""Dislocation of a given joint repeated times."" []"
HP:0031870,"""An elevated concentration of phosphohydroxylysine in the urine."" [HPO:probinson, PMID:23242558]"
HP:0031871,"""Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis."" [PMID:29449841]"
HP:0031872,"""Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy."" [HPO:probinson, PMID:15816828]"
HP:0031873,"""A tendency towards rising very early in the morning and going to bed early in the evening."" []"
HP:0031874,"""A tendency towards rising very late in the morning and going to bed late at night."" []"
HP:0031875,"""Any deviation from the normal concentration of hepcidin in the blood circulation."" [HPO:probinson, PMID:16450011]"
HP:0031876,"""An abnormally reduced concentration of hepcidin in the blood circulation."" [HPO:probinson, PMID:16450011]"
HP:0031877,"""An abnormally increased concentration of hepcidin in the blood circulation."" [HPO:probinson, PMID:16450011]"
HP:0031878,"""Small hands and feet in proportion to the rest of the body."" [HPO:probinson, PMID:22043168]"
HP:0031879,"""Any functional abnormality of the eyelid."" []"
HP:0031880,"""Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test."" [UManchester:psergouniotis]"
HP:0031881,"""A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct."" [UManchester:psergouniotis]"
HP:0031882,"""A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm."" [COST:neuromig]"
HP:0031883,"""An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation."" [RGD:gthayman]"
HP:0031884,"""A deviation from normal concentration of glucose content in the cerebrospinal fluid."" []"
HP:0031885,"""Abnormally high glucose concentration in the cerebrospinal fluid."" [HPO:nvasilevsky]"
HP:0031886,"""Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation."" [HPO:probinson]"
HP:0031887,"""Any deviation from the normal circulating concentration of chylomicrons."" []"
HP:0031888,"""Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood."" []"
HP:0031889,"""Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood."" []"
HP:0031890,"""An elevated concentration of urobilinogen in the urine."" []"
HP:0031891,"""Abnormal reduction in the count of eosinophils in the blood per volume."" [HPO:probinson]"
HP:0031898,"""Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells."" [HPO:probinson, PMID:16739263]"
HP:0031899,"""Any deviation from the activity of coagulation factor V."" []"
HP:0031901,"""An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation."" [PMID:16372800, PMID:19522836, PMID:25169217, PMID:27749843, PMID:3295549]"
HP:0031903,"""Any deviation from the normal circulating concentration of selenium."" [HPO:probinson, PMID:26045617, PMID:29494512]"
HP:0031904,"""Any deviation from the normal total hemolytic complement activity in the circulation."" []"
HP:0031905,"""An abnormally elevated total hemolytic complement activity in the circulation."" [HPO:probinson]"
HP:0031906,"""An abnormally reduced total hemolytic complement activity in the circulation."" [HPO:probinson]"
HP:0031907,"""The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum."" [LMU:mgriese, PMID:30579751]"
HP:0031908,"""Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task."" [HPO:probinson, PMID:29403348]"
HP:0031909,"""A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn."" [PMID:28811816]"
HP:0031910,"""A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem."" []"
HP:0031911,Abnormal fifth cranial nerve physiology
HP:0031912,"""Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth."" [https://orcid.org/0000-0002-3194-8625, PMID:10653422, PMID:2256843]"
HP:0031913,"""Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis."" [https://orcid.org/0000-0002-3194-8625, PMID:22451504]"
HP:0031914,"""Varying irregularly over time in severity, amount, or amplitude."" []"
HP:0031915,"""This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time."" []"
HP:0031917,"""An open sore on the surface of the skin of a finger or toe."" []"
HP:0031918,"""A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts."" [NCIT:C4862, PMID:27858568]"
HP:0031919,"""Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type."" [NCIT:C7289, PMID:25788847]"
HP:0031920,"""An aggressive granulosa cell tumor that arises from the ovary."" [NCIT:C8403]"
HP:0031921,"""Pain of the gastrocnemius muscle."" [PMID:29491286]"
HP:0031922,"""The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body."" [PMID:15378279, PMID:21475502]"
HP:0031923,"""Accumulation of blood in the vagina usually due to vaginal obstruction."" [PMID:29479403]"
HP:0031924,"""The presence of linear erythematous palpable cords, often on the lateral trunk."" [PMID:16935918, PMID:26131871]"
HP:0031925,"""A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub."" [PMID:16551982]"
HP:0031926,"""A type of rosette in which the central lumen or hub is filled with fiber-like processes."" [PMID:16551982]"
HP:0031927,"""The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil."" [PMID:16551982]"
HP:0031928,"""A type of rosette in which a halo of cells surrounds an empty lumen."" [PMID:16551982]"
HP:0031929,"""A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel."" [PMID:16551982]"
HP:0031930,"""A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular."" [PMID:16551982]"
HP:0031931,"""Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation."" [PMID:17314191, UManchester:psergouniotis]"
HP:0031932,"""Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity."" [PMID:26085759]"
HP:0031933,"""The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle."" [PMID:27525240]"
HP:0031934,"""A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen."" []"
HP:0031935,"""Significant luminal narrowing of a long segment of or the entire ascending aorta."" [PMID:13938144]"
HP:0031936,"""A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months."" []"
HP:0031937,"""Extreme rapidity of speech."" []"
HP:0031938,"""Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae)."" []"
HP:0031939,Conus terminalis arteriovenous malformation
HP:0031941,"""Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins."" [PMID:11796904]"
HP:0031942,"""Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts."" [PMID:18932274, PMID:2053351]"
HP:0031943,"""A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria."" [PMID:17974927]"
HP:0031944,"""An increase in the thickness of the pleura, generally related to scarring of the pleural tissue."" [PMID:23287997]"
HP:0031945,"""An increased concentration of N,N-dimethylglycine in the circulation."" []"
HP:0031946,"""An increased concentration of N,N-dimethylglycine in the urine."" []"
HP:0031947,"""An unintentional, oscillating to-and-fro muscle movement affecting the tongue."" []"
HP:0031948,"""Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome."" [PMID:24663235, PMID:26991403]"
HP:0031949,"""An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)."" [PMID:26424818]"
HP:0031950,"""Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing."" [PMID:26666486, PMID:8697837]"
HP:0031951,"""Seizures that occur while the affected individual is sleeping."" [PMID:22334817, PMID:23385697, PMID:25941204]"
HP:0031952,"""Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine."" [PMID:27770207]"
HP:0031953,"""Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen."" []"
HP:0031954,"""Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients."" [PMID:27770207]"
HP:0031955,"""To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position."" [PMID:27770207]"
HP:0031956,"""An abnormally high concentration in the circulation of aspartate aminotransferase (AST)."" []"
HP:0031957,"""Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster."" [PMID:27770207]"
HP:0031958,"""A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait."" [PMID:27770207]"
HP:0031959,"""A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs."" []"
HP:0031960,"""A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms."" []"
HP:0031961,"""Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration."" [PMID:17699401]"
HP:0031962,"""An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration)."" [PMID:17699401]"
HP:0031963,"""An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration)."" [PMID:17699401]"
HP:0031964,"""An abnormally high concentration in the circulation of alanine aminotransferase (ALT)."" [PMID:18366115]"
HP:0031965,"""Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage."" [PMID:27867951, PMID:28683798]"
HP:0031967,"""The appearance of the urine having visible material in suspension, i.e., appearing cloudy."" []"
HP:0031969,"""An abnormally low concentration of urea nitrogen in the blood."" []"
HP:0031970,"""Any deviation from the normal concentration of urea nitrogen in the blood."" []"
HP:0031971,"""A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy."" [ORCID:0000-0001-5835-5515, PMID:25129067, PMID:9203495]"
HP:0031972,"""Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause."" [ORCID:0000-0001-5835-5515]"
HP:0031973,"""An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc."" [UManchester:psergouniotis]"
HP:0031974,"""Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3)."" [UManchester:psergouniotis]"
HP:0031975,"""Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3)."" [UManchester:psergouniotis]"
HP:0031976,"""Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3)."" [UManchester:psergouniotis]"
HP:0031977,"""Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3)."" [UManchester:psergouniotis]"
HP:0031978,"""Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3)."" [UManchester:psergouniotis]"
HP:0031979,"""Any deviation from the normal concentration of a carbohydrate in the urine."" []"
HP:0031980,"""Any deviation from the normal concentration of a carboxylic acid in the urine."" []"
HP:0031981,"""An increased concentration of glycolate in the urine."" [PMID:2031609]"
HP:0031982,"""Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum."" []"
HP:0031983,"""This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density."" []"
HP:0031984,"""A piece of food that has gotten stuck in the esophagus and prevents further swallowing."" [PMID:21960934]"
HP:0031985,"""An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa."" [PMID:22919257]"
HP:0031986,"""Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant."" [PMID:21339907]"
HP:0031987,"""Being unable to focus one's attention or mental effort on a particular object or activity."" []"
HP:0031989,"""A sudden involuntary contraction of the musculature surrounding the mouth."" []"
HP:0031990,"""A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve."" [PMID:22970971, PMID:29443134]"
HP:0031991,"""An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption."" [PMID:10222355]"
HP:0031992,"""Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity."" [ORCID:0000-0001-5835-5515, PMID:23109785, PMID:8685759]"
HP:0031993,"""A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test."" [PMID:11813951, PMID:20229121]"
HP:0031994,"""Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy."" [PMID:26229557]"
HP:0031995,"""Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles."" [PMID:26229557]"
HP:0031996,"""Crackles that are heard during the inspiratory phase."" [PMID:26229557]"
HP:0031997,"""Crackles that appear at the beginning of inspiration and end before mid-inspiration."" [PMID:26229557]"
HP:0031998,"""Crackles that appear any time after the beginning of inspiration and last till the end of inspiration."" [PMID:26229557]"
HP:0031999,"""Crackles that occur during expiration."" [PMID:26229557]"
HP:0032000,"""An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles"" [PMID:26229557]"
HP:0032001,"""An abnormal pink color of urine."" []"
HP:0032002,"""An abnormal orange color of urine."" [PMID:18613989, PMID:29967083]"
HP:0032003,"""An abnormal green color of urine."" [PMID:28413291]"
HP:0032004,"""A sensation of itching in the vulvar region."" []"
HP:0032005,"""Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg."" [PMID:11784827, PMID:4031909]"
HP:0032006,"""An unintentional, oscillating to-and-fro muscle movement affecting the lip."" []"
HP:0032007,"""A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue."" [PMID:12192848]"
HP:0032008,"""The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung."" [ORCID:0000-0001-5208-3432, PMID:24468004]"
HP:0032009,"""Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities."" [UManchester:psergouniotis]"
HP:0032010,"""Constant exotropia for near and distance, presenting after 6 months of age."" [UManchester:psergouniotis]"
HP:0032011,"""Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs."" []"
HP:0032012,"""Manifest deviation of the visual axes not controlled by fusion."" [UManchester:psergouniotis]"
HP:0032013,"""Overshoot of horizontal (sideways) saccadic eye movements."" []"
HP:0032014,"""Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction."" [UManchester:psergouniotis]"
HP:0032015,"""Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction."" [UManchester:psergouniotis]"
HP:0032016,"""Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin."" []"
HP:0032017,"""An increased proportion of eosinophils in sputum in the differentiated cell count."" [HPO:probinson, PMID:23741092, PMID:29146301]"
HP:0032018,"""A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially."" [HPO:probinson, PMID:25494723]"
HP:0032019,"""Eosinophil infiltration of skeletal muscle."" [HPO:probinson, PMID:24424174, PMID:24803842]"
HP:0032020,"""Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis."" [PMID:15857336, PMID:28829677]"
HP:0032021,"""Cellular infiltration of the liver parenchyma with a preponderance of eosinophils."" [HPO:probinson, PMID:20457690, PMID:7835024]"
HP:0032022,"""Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils."" [PMID:23730155, PMID:6724778]"
HP:0032023,"""Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination."" [PMID:27872806]"
HP:0032024,"""An erosion of the mucous membrane in a portion of the ileum."" [PMID:28670609]"
HP:0032025,"""A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs."" [PMID:24507836]"
HP:0032026,"""Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis."" [PMID:20652064, PMID:28116317]"
HP:0032027,"""Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size."" [UManchester:psergouniotis]"
HP:0032028,"""Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size."" [UManchester:psergouniotis]"
HP:0032029,"""Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis."" [PMID:26139650, UManchester:psergouniotis]"
HP:0032030,"""Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed."" [UManchester:psergouniotis]"
HP:0032031,"""Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally."" [UManchester:psergouniotis]"
HP:0032032,"""Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present."" [UManchester:psergouniotis]"
HP:0032033,"""Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present."" [UManchester:psergouniotis]"
HP:0032034,"""Abnormally lax upper eyelid associated with tissue relaxation."" [UManchester:psergouniotis]"
HP:0032035,"""Abnormally lax lower eyelid associated with tissue relaxation."" [UManchester:psergouniotis]"
HP:0032036,"""An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target."" [PMID:12809156, UManchester:psergouniotis]"
HP:0032037,"""Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation)."" []"
HP:0032039,"""An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva."" []"
HP:0032040,"""A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva."" []"
HP:0032041,"""A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color."" [PMID:26628451, PMID:29749984]"
HP:0032043,"""Pain experienced with swallowing."" []"
HP:0032044,"""A reduction in the ability to maintain sustained attention characterized by reduced alertness."" [PMID:16581292]"
HP:0032045,"""Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse."" []"
HP:0032046,"""A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons."" [PMID:12707084]"
HP:0032047,"""A type of focal cortical dysplasia that is characterized by abnormal cortical layering."" [COST:neuromig, PMID:21219302]"
HP:0032048,"""A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination."" [COST:neuromig, PMID:21219302]"
HP:0032049,"""A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination."" [COST:neuromig, PMID:21219302]"
HP:0032050,"""A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination."" [COST:neuromig, PMID:21219302]"
HP:0032051,"""A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities."" [COST:neuromig, PMID:21219302]"
HP:0032052,"""A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins."" [COST:neuromig, PMID:21219302]"
HP:0032053,"""A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells."" [COST:neuromig, PMID:21219302]"
HP:0032054,"""A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe."" [COST:neuromig, PMID:21219302]"
HP:0032055,"""A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis)."" [COST:neuromig, PMID:21219302]"
HP:0032056,"""A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor."" [COST:neuromig, PMID:21219302]"
HP:0032057,"""A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis)."" [COST:neuromig, PMID:21219302]"
HP:0032058,"""A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections."" [COST:neuromig, PMID:21219302]"
HP:0032059,"""A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter."" [COST:neuromig, PMID:21219302]"
HP:0032060,"""A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area."" [NCIT:C4298, PMID:25484503, PMID:25927152]"
HP:0032061,"""A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter."" [PMID:20538328]"
HP:0032062,"""Vomiting-induced mucosal laceration at the esophago-gastric junction."" [PMID:22560400]"
HP:0032063,"""Abnormal accumulation of fluid in or around the ankle joint."" []"
HP:0032064,"""Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them."" [PMID:17868858, PMID:23964139]"
HP:0032065,"""Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation."" []"
HP:0032066,"""An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation."" []"
HP:0032067,"""An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation."" []"
HP:0032068,"""An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis."" [PMID:8126784]"
HP:0032069,"""The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin."" [ORCID:0000-0002-3387-1836, PMID:21196203, PMID:33144894, PMID:33999913, PMID:34634575]"
HP:0032070,"""Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis."" [PMID:17374867]"
HP:0032071,"""The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia."" [PMID:19618037, PMID:21428117]"
HP:0032072,"""A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle."" [PMID:25102502, PMID:26137182]"
HP:0032073,"""Aplasia, that is failure to develop, of the fallopian tube."" []"
HP:0032075,"""Fusion of the pancreatic tail and spleen."" [ORCID:0000-0001-5208-3432, PMID:18398855]"
HP:0032076,Abnormal male urethral meatus morphology
HP:0032077,"""An abnormal narrowing of the urethral opening (meatus) of the penis."" [PMID:28537045]"
HP:0032078,"""A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head)."" [PMID:8267010]"
HP:0032079,"""Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections."" [PMID:27031798]"
HP:0032081,"""A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units."" [PMID:27031798]"
HP:0032082,"""A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees."" [PMID:27031798]"
HP:0032083,"""Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers."" [PMID:27031798]"
HP:0032084,"""A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers."" [PMID:27031798]"
HP:0032085,"""Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers."" [PMID:27031798]"
HP:0032086,"""A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain."" [PMID:27031798]"
HP:0032087,"""Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers."" [PMID:27031798]"
HP:0032088,"""Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells."" [PMID:27031798]"
HP:0032089,"""An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units)."" [PMID:27031798]"
HP:0032090,"""A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units."" [PMID:27031798]"
HP:0032091,"""A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units."" [PMID:27031798]"
HP:0032092,"""Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle."" [PMID:29262119]"
HP:0032094,"""An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis."" [PMID:28591049]"
HP:0032096,"""A deviation from the normal range of manganese in the blood circulation."" []"
HP:0032097,"""An elevation above the normal concentration of manganese in the blood."" [PMID:29382362]"
HP:0032098,"""A reduction below the normal concentration of manganese in the blood."" []"
HP:0032099,"""The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976)."" [PMID:27833976]"
HP:0032100,"""The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage."" [PMID:7299406]"
HP:0032101,"""A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections."" [PMID:22052638]"
HP:0032102,"""Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia."" [PMID:12975201]"
HP:0032104,"""An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade."" [UManchester:psergouniotis]"
HP:0032105,"""A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern."" [PMID:14681893]"
HP:0032106,"""Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease."" []"
HP:0032107,"""A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus."" [PMID:26788074, UManchester:psergouniotis]"
HP:0032108,"""A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss."" [UManchester:psergouniotis]"
HP:0032109,"""A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss."" [UManchester:psergouniotis]"
HP:0032110,"""A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss."" [UManchester:psergouniotis]"
HP:0032111,"""An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test."" [PMID:1911660]"
HP:0032112,"""An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast."" [PMID:16723494, UManchester:psergouniotis]"
HP:0032113,"""A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected."" [ClinGen:courtneythaxton, ClinGen:erinriggs, ClinGen:jennygoldstein, ClinGen:jimmyzqhen, ClinGen:marinadistefano, ClinGen:mattwright, ClinGen:scottgoehringer, ClinGen:tristannelson]"
HP:0032114,"""An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade."" [UManchester:psergouniotis]"
HP:0032116,"""Horizontal 10-40 degree excursions from fixation and back again."" [ISBN:978-0198804550, UManchester:psergouniotis]"
HP:0032118,"""Inflammation of the retina of the eye."" [UManchester:psergouniotis]"
HP:0032119,"""A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle."" [UManchester:psergouniotis]"
HP:0032120,"""Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord."" []"
HP:0032121,"""An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint."" [PMID:12916637]"
HP:0032122,"""A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590)."" []"
HP:0032123,"""Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590)."" []"
HP:0032124,"""A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells."" [PMID:28882820]"
HP:0032125,"""An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells."" []"
HP:0032126,"""A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells."" []"
HP:0032127,"""A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination."" [PMID:22566959]"
HP:0032128,"""An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells."" []"
HP:0032129,"""A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells."" []"
HP:0032130,"""Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections."" [PMID:26295364]"
HP:0032131,"""Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium."" [PMID:12525422]"
HP:0032132,"""A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood."" [PMID:17910333]"
HP:0032133,"""A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood."" []"
HP:0032134,"""A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood."" []"
HP:0032135,"""A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood."" [PMID:17910333]"
HP:0032136,"""A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation."" []"
HP:0032137,"""A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation."" []"
HP:0032138,"""A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation."" [PMID:26929632]"
HP:0032139,"""Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person)."" [PMID:25309532]"
HP:0032140,"""A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination."" [PMID:26018535]"
HP:0032141,"""A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck."" [PMID:18122452]"
HP:0032142,"""Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic."" [PMID:10791209]"
HP:0032143,"""An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa."" [PMID:25952601]"
HP:0032144,"""Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit."" [PMID:19564091]"
HP:0032145,"""Wasting of the sural nerve, a sensory nerve in the calf region of the leg."" []"
HP:0032146,"""Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis."" [PMID:15215497, PMID:20301551]"
HP:0032147,"""Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet."" [ORCID:0000-0002-1089-1543, PMID:26419464]"
HP:0032148,"""Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals."" []"
HP:0032149,"""A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain."" [PMID:26438145]"
HP:0032150,"""Excruciating burning pain in the rectal area that may be triggered by defecation."" [PMID:29650526]"
HP:0032151,"""Recurrent episodes of marked eosinophilia that resolve spontaneously."" [PMID:25527564]"
HP:0032152,"""An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs."" [PMID:22628989, PMID:27194977, PMID:30043128]"
HP:0032153,"""A partial dislocation of a joint."" []"
HP:0032154,"""Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border."" [PMID:25346356]"
HP:0032155,"""A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity."" []"
HP:0032156,"""Loss of sections of skin either spontaneously or after gentle handling."" [PMID:27656858, RGD:gthayman]"
HP:0032157,"""Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks."" [PMID:27532832]"
HP:0032158,"""An unusual infection classified by the affected body part."" []"
HP:0032159,"""An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis."" [PMID:29244019]"
HP:0032160,"""A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis."" [PMID:24715488]"
HP:0032161,"""A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges."" [PMID:27927853]"
HP:0032162,"""A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection."" []"
HP:0032163,"""Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state."" [PMID:24740746]"
HP:0032164,"""An elevated circulating concentration of folic acid, which is also known as vitamin B9."" []"
HP:0032165,"""Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells."" [PMID:17227114, PMID:25171710, PMID:28515588]"
HP:0032166,Unusual gastrointestinal infection
HP:0032167,"""An infection of the small intestine (enteritis) by clostridium difficile."" []"
HP:0032168,"""An infection of the colon (colitis) by clostridium difficile."" [PMID:22298971]"
HP:0032169,"""A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection."" []"
HP:0032170,"""An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella."" [PMID:21748081, PMID:23248376]"
HP:0032171,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case."" []"
HP:0032172,"""A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan."" [PMID:26312141]"
HP:0032173,"""This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign."" [PMID:26312141]"
HP:0032174,"""The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376)."" [PMID:18195376]"
HP:0032175,"""This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging."" [PMID:18195376]"
HP:0032176,"""An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space."" [PMID:18195376, PMID:1994409]"
HP:0032177,"""Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia)."" [PMID:18195376]"
HP:0032178,"""A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001)."" [PMID:1764353, PMID:24285001]"
HP:0032179,"""An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode."" []"
HP:0032180,"""An abnormal level of an analyte measured in the blood."" []"
HP:0032181,"""An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium."" [PMID:12556263, PMID:16122505, PMID:20552624]"
HP:0032182,"""An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response."" [PMID:8450264]"
HP:0032183,"""An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood."" [PMID:8450264]"
HP:0032184,"""An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood."" []"
HP:0032185,"""The presense of molluscum contagiosum lesions across multiple areas of the body."" [PMID:21894250]"
HP:0032186,"""A benign or malignant neoplasm that affects the anal canal or anal margin."" [NCIT:C2877]"
HP:0032187,"""Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer."" [NCIT:C4595, PMID:28255426]"
HP:0032188,"""An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle."" [ORCID:0000-0001-5208-3432, PMID:9650445]"
HP:0032189,"""An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle."" [ORCID:0000-0001-5208-3432, PMID:14679584]"
HP:0032190,"""Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement."" [PMID:26488288]"
HP:0032191,"""A tear in the cartilaginous pad (meniscus) of the knee."" [PMID:21126396, PMID:26488288]"
HP:0032192,"""Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast."" [PMID:23232697, PMID:26421650]"
HP:0032193,"""An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation."" [ORCID:0000-0001-5356-4174, PMID:10417486, PMID:9973300]"
HP:0032195,"""Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart."" []"
HP:0032196,"""Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram."" [PMID:27012403]"
HP:0032197,"""Abnormal depth of the S wave in lead V5 of the electrocardiogram."" [PMID:29279530]"
HP:0032198,"""Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT."" [PMID:21470390]"
HP:0032199,"""Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT."" [PMID:29939529]"
HP:0032200,"""The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern."" [PMID:21502911, PMID:30363608]"
HP:0032201,"""The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus."" [PMID:24932450, PMID:29229593]"
HP:0032202,"""Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC."" [NCIT:C4756, PMID:30187167]"
HP:0032203,"""Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236)."" [PMID:10400105, PMID:17368236]"
HP:0032204,"""Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed."" []"
HP:0032205,"""An increased circulation of galectin-3 in the blood circulation."" [PMID:24065222]"
HP:0032208,"""An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours."" [PMID:30572827]"
HP:0032209,"""A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3."" []"
HP:0032210,"""A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation."" []"
HP:0032211,"""An increased number of epithelial cells per high-power field in urinanalysis."" []"
HP:0032212,"""An increased number of squamous epithelial cells per high-power field in urinanalysis."" [PMID:26782662]"
HP:0032213,"""An increased number of renal tubular epithelial cells per high-power field in urinanalysis."" []"
HP:0032214,"""An increased number of transitional epithelial cells per high-power field in urinanalysis."" []"
HP:0032215,"""Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities."" [PMID:29730845]"
HP:0032216,"""Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy."" [PMID:9824342]"
HP:0032217,"""A skin nodule that is unusually hard (indurated)."" [PMID:16252032, PMID:23006954]"
HP:0032218,"""A reduction in the proportion of CD4-positive T cells relative to the total number of T cells."" []"
HP:0032219,"""An elevation in the proportion of CD4-positive T cells relative to the total number of T cells."" []"
HP:0032220,"""Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma."" []"
HP:0032221,"""The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area."" [PMID:25654060, PMID:9420892]"
HP:0032222,"""The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification."" [NCIT:C96470, PMID:27540339]"
HP:0032223,"""Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems."" [PMID:26085552]"
HP:0032224,"""The ABO system consists of A and B antigens and antibodies against these antigens."" [PMID:15373665, PMID:26085552]"
HP:0032225,"""Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle."" [PMID:21747629]"
HP:0032226,"""Any structural anomaly of the sebaceous glands."" [PMID:17975220]"
HP:0032227,"""A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola."" [PMID:24759166]"
HP:0032228,"""A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion."" [NCIT:C43333, PMID:10522666]"
HP:0032229,"""The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils."" [ORCID:0000-0002-7440-8864, PMID:24854381, PMID:27481040, PMID:28661185]"
HP:0032230,"""The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils."" [ORCID:0000-0002-7440-8864, PMID:14646155, PMID:24854381, PMID:27481040, PMID:28661185]"
HP:0032231,"""A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells."" []"
HP:0032232,"""An increased concentration of the MB isoform of creatine kinase in the blood circulation."" [PMID:21448658]"
HP:0032233,"""An increased concentration of the BB isoform of creatine kinase in the blood circulation."" [PMID:21448658]"
HP:0032234,"""An increased concentration of the MM isoform of creatine kinase in the blood circulation."" [PMID:21448658]"
HP:0032235,"""The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens."" [ORCID:0000-0002-4095-8489, PMID:15804706, PMID:27431345]"
HP:0032236,"""An abnormally increased number of immature neutrophils in the peripheral blood circulation."" [PMID:25887201]"
HP:0032237,"""An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1."" [PMID:25887201]"
HP:0032238,"""An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1."" [PMID:25887201]"
HP:0032239,"""An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2."" [PMID:25887201]"
HP:0032240,"""An increased concentration of E selectin in the blood circulation."" [PMID:12591072]"
HP:0032241,"""A tumor (abnormal growth of tissue) of the uterine cervix."" [NCIT:C2940]"
HP:0032242,"""A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer."" [PMID:28453530]"
HP:0032243,"""Any deviation from the normal concentration of a metabolite in a tissue."" []"
HP:0032244,"""A reduction in the concentration of thromboxane B2 in the blood circulation."" [PMID:6101498]"
HP:0032245,"""An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products."" []"
HP:0032247,"""Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation."" [PMID:28130404]"
HP:0032248,"""Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host."" []"
HP:0032249,"""Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii."" [PMID:23843703]"
HP:0032250,"""An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay."" [PMID:22546906]"
HP:0032251,Abnormal immune system morphology
HP:0032252,"""A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis."" [PMID:10908370, PMID:11168676, PMID:937513]"
HP:0032253,"""A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris."" [PMID:21938183]"
HP:0032254,"""An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration."" []"
HP:0032255,"""An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system."" []"
HP:0032256,"""Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons."" [PMID:26897068, PMID:30619685]"
HP:0032257,"""Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS."" [PMID:30619685]"
HP:0032258,"""Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum."" [PMID:21810958]"
HP:0032259,"""The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect."" [PMID:25403034]"
HP:0032260,"""An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system."" []"
HP:0032261,"""An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease."" [PMID:24624285, PMID:7472715]"
HP:0032262,"""A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria."" [PMID:30345099]"
HP:0032263,"""Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension."" [PMID:9137951]"
HP:0032264,"""The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor."" [PMID:24729779]"
HP:0032265,"""The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues."" []"
HP:0032266,"""The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor."" [PMID:29651625]"
HP:0032267,"""This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases."" [PMID:19881070, PMID:29089832]"
HP:0032268,"""This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor."" [PMID:19881070]"
HP:0032269,"""The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles."" [ORCID:0000-0001-8612-1062, PMID:12832584, PMID:29089832]"
HP:0032270,"""A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common."" [PMID:19881070]"
HP:0032271,"""A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB."" [PMID:16300038, PMID:25861336]"
HP:0032272,"""Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry."" [PMID:8412017]"
HP:0032273,"""An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation."" [PMID:8412017]"
HP:0032274,"""An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF)."" [PMID:8412017]"
HP:0032275,"""Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes."" [PMID:24113666]"
HP:0032276,"""Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062."" [PMID:26769062]"
HP:0032277,Lozenge-shaped umbilicus
HP:0032278,"""An increase in the level of 2-hydroxyglutaric acid in the urine."" []"
HP:0032281,"""Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C)."" [PMID:30067929]"
HP:0032282,"""An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis."" []"
HP:0032283,"""An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease."" []"
HP:0032284,"""Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm)."" [UManchester:psergouniotis]"
HP:0032285,"""Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus."" [UManchester:psergouniotis]"
HP:0032286,"""Ultra-low vision but with retained ability to perceive the difference between light and dark."" [UManchester:psergouniotis]"
HP:0032287,"""Ultra-low vision with complete lack of light and form perception."" [UManchester:psergouniotis]"
HP:0032288,"""An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains."" [PMID:15663032]"
HP:0032289,"""An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins."" []"
HP:0032290,"""An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins."" []"
HP:0032291,"""A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain."" []"
HP:0032292,"""A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain."" [PMID:10926917]"
HP:0032293,"""A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain."" []"
HP:0032294,"""A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain."" []"
HP:0032295,"""A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain."" []"
HP:0032296,"""An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses."" [PMID:25368619]"
HP:0032297,"""An abnormally increased concentration of the IgG3 subtype in the blood circulation."" [PMID:25368619, UCDenver:tjcallahan]"
HP:0032298,"""An abnormally increased concentration of the IgG1 subtype in the blood circulation."" [PMID:25368619, UCDenver:tjcallahan]"
HP:0032299,"""An abnormally increased concentration of the IgG2 subtype in the blood circulation."" [PMID:25368619, UCDenver:tjcallahan]"
HP:0032300,"""An abnormally increased concentration of the IgG4 subtype in the blood circulation."" [PMID:25368619, UCDenver:tjcallahan]"
HP:0032301,"""Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress."" [PMID:28722914]"
HP:0032302,"""The presence of free monoclonal kappa immunoglobulin light chains in the urine."" []"
HP:0032303,"""The presence of free monoclonal lambda immunoglobulin light chains in the urine."" []"
HP:0032304,"""Any deviation from the normal concentration of mannose-binding protein in the blood circulation."" []"
HP:0032305,"""An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation."" [OHSU:jpgourdine, PMID:25783214]"
HP:0032306,"""An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation."" [OHSU:jpgourdine, PMID:25783214]"
HP:0032308,"""An elevated concentration of procalcitonin in the blood circulation."" [PMID:28794881, PMID:2933297, UCDenver:tjcallahan]"
HP:0032309,"""Any deviation from the normal cell count per volume of granulocytes in the blood circulation."" []"
HP:0032310,"""An increased count of granulocytes in the peripheral blood circulation."" []"
HP:0032311,"""An abnormally elevated concentration of globulins in the blood."" [UCDenver:tjcallahan]"
HP:0032312,"""An abnormally reduced concentration of globulins in the blood."" []"
HP:0032313,"""Excessive, increased hair growth located in the region of the forehead and temple."" []"
HP:0032314,"""An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple."" []"
HP:0032315,"""The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape."" []"
HP:0032316,"""Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins."" []"
HP:0032317,"""A close blood relative had cancer."" []"
HP:0032318,"""A close blood relative had heart disease."" []"
HP:0032319,"""Health status of a family member with respect to the disease being investigated in a proband."" []"
HP:0032320,"""This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband)."" []"
HP:0032321,"""This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded."" []"
HP:0032322,"""No history of any serious disease, including the disease being investigated in the proband."" []"
HP:0032323,"""Episodic fever that recurs at regular intervals."" []"
HP:0032324,"""Episodic fever that recurs at irregular intervals."" []"
HP:0032325,"""A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain."" [PMID:15834013]"
HP:0032326,"""Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection."" [PMID:16186732]"
HP:0032327,"""Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system."" [PMID:27195030]"
HP:0032328,"""Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ."" [PMID:12139272, PMID:19534789]"
HP:0032329,"""An abnormally elevated concentration of 11-deoxycortisol in the urine."" [OHSU:jpgourdine, PMID:10689646]"
HP:0032330,"""An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine."" [OHSU:jpgourdine, PMID:10689646]"
HP:0032331,"""An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine."" [OHSU:jpgourdine, PMID:10689646]"
HP:0032332,"""An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase."" []"
HP:0032333,"""A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis."" []"
HP:0032334,"""An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins."" []"
HP:0032335,"""An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins."" []"
HP:0032336,Increased circulating specific IgE antibody
HP:0032337,"""An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins."" []"
HP:0032338,"""An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins."" []"
HP:0032339,"""A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis."" []"
HP:0032341,"""An abnormal reduction in the amount of air a person can expel following maximal inspiration."" [PMID:22347750, PMID:24695507]"
HP:0032342,"""An abnormal reduction in the amount of air a person can forcefully expel in one second."" []"
HP:0032344,"""Upturned concavity of toenails."" []"
HP:0032345,"""An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation."" []"
HP:0032346,"""Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs."" [PMID:28342017, PMID:29630157]"
HP:0032347,"""A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern."" [PMID:26981113]"
HP:0032348,"""A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue."" [PMID:28537855]"
HP:0032349,"""A increased concentration of serine in the urine."" [UCDenver:tjcallahan]"
HP:0032350,"""A increased concentration of sulfocysteine in the urine."" [PMID:28980090, UCDenver:tjcallahan]"
HP:0032351,"""Increased level of phenylalanine in urine."" [PMID:18566668, UCDenver:tjcallahan]"
HP:0032352,"""Increased level of methionine in urine."" [UCDenver:tjcallahan]"
HP:0032353,"""Increased level of leucine in urine."" [UCDenver:tjcallahan]"
HP:0032355,"""A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways."" [PMID:28005993, UCDenver:tjcallahan]"
HP:0032356,"""An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication."" [PMID:24695507, UCDenver:tjcallahan]"
HP:0032357,"""An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication."" [PMID:24695507, UCDenver:tjcallahan]"
HP:0032358,"""An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication."" []"
HP:0032359,"""A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled."" [PMID:24695507, UCDenver:tjcallahan]"
HP:0032360,"""A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication."" [PMID:24695507, UCDenver:tjcallahan]"
HP:0032361,"""A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication."" []"
HP:0032362,"""An abnormally elevated concentration of corticosterone in the blood."" [UCDenver:tjcallahan]"
HP:0032363,"""An abnormally reduced concentration of corticosterone in the blood."" []"
HP:0032365,"""Applied to a sign or symptom that is worsened by ingestion of aspirin."" []"
HP:0032366,"""A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction."" [PMID:28134589]"
HP:0032367,"""Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful."" []"
HP:0032368,"""An abnormally low blood pH (usually defined as less than 7.35)."" [PMID:24381489]"
HP:0032369,"""An abnormally high blood pH (usually defined as 7.41 or above)."" [PMID:24381489]"
HP:0032370,"""ABO phenotype A, corresponding to the genotype AO or AA."" []"
HP:0032371,"""An increased concentration of isoleucine in the urine."" [UCDenver:tjcallahan]"
HP:0032372,"""An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications."" []"
HP:0032373,"""The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-."" [PMID:19480920]"
HP:0032374,"""Presence of the Duffy Fya antigen."" [PMID:19480920]"
HP:0032375,"""Presence of the Duffy Fyb antigen."" [PMID:19480920]"
HP:0032376,"""Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS)."" [PMID:28105326]"
HP:0032377,"""An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism."" [PMID:25711902]"
HP:0032378,"""Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement."" [PMID:24286446]"
HP:0032379,"""The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces."" [PMID:21442060]"
HP:0032381,"""In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation."" [PMID:21442060]"
HP:0032382,"""Inheritance of both homologues of a chromosome pair from the same parent."" []"
HP:0032383,"""A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted."" [PMID:25547535]"
HP:0032384,"""A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted."" [PMID:25547535]"
HP:0032385,"""Any deviation from the normal concentration of transferrin in the blood circulation."" []"
HP:0032386,"""An abnormally increased concentration of transferrin in the blood circulation."" [PMID:19787826]"
HP:0032387,"""An abnormally decreased concentration of transferrin in the blood circulation."" []"
HP:0032388,"""Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple."" [COST:neuromig, PMID:22427329]"
HP:0032389,"""A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral."" [COST:neuromig, PMID:22427329, PMID:22473091]"
HP:0032390,"""Heterotopia that forms a continuous wavy line along the ventricular wall."" [COST:neuromig, PMID:22315185]"
HP:0032391,"""A form of heterotopia were the mislocalized gray matter is located deep within the white matter."" [COST:neuromig]"
HP:0032392,"""Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei."" [COST:neuromig, PMID:23246003, PMID:29654772]"
HP:0032393,"""Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex."" [COST:neuromig, PMID:24859200]"
HP:0032394,"""Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia."" [COST:neuromig, PMID:22578326]"
HP:0032395,"""Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia."" [COST:neuromig, PMID:22427329]"
HP:0032396,"""Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma."" [COST:neuromig, PMID:22427329]"
HP:0032397,"""An increased concentration of citrulline in the urine."" [PMID:29695388, UCDenver:tjcallahan]"
HP:0032398,"""An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation."" [COST:neuromig, PMID:26130693, PMID:26564436, PMID:32895508]"
HP:0032399,"""An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex."" [COST:neuromig]"
HP:0032400,"""An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria."" [COST:neuromig]"
HP:0032401,"""A increased concentration of aspartic acid in the urine."" [PMID:21123949, UCDenver:tjcallahan]"
HP:0032403,"""An increased concentration of asparagine in the urine."" [UCDenver:tjcallahan]"
HP:0032404,"""An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer."" [PMID:9490992]"
HP:0032405,"""An increased level of phosphoserine in the urine."" [PMID:7688003, UCDenver:tjcallahan]"
HP:0032406,"""A type of perisylvian polymicrogyria that largely affects one side of the brain."" [COST:neuromig, PMID:20301504]"
HP:0032407,"""A type of perisylvian polymicrogyria that affects both sides of the brain."" [COST:neuromig, PMID:20301504]"
HP:0032408,"""A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician."" [PMID:15887452]"
HP:0032409,"""A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum."" [COST:neuromig, PMID:28413838]"
HP:0032410,"""Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter."" [COST:neuromig, PMID:20301504]"
HP:0032411,"""Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex."" [COST:neuromig]"
HP:0032412,"""Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes."" [COST:neuromig]"
HP:0032413,"""Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain."" [COST:neuromig]"
HP:0032414,"""The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens."" [UCDenver:tjcallahan]"
HP:0032415,"""Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex."" [COST:neuromig, PMID:20301504, PMID:21127420]"
HP:0032416,"""A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells."" [ORCID:0000-0002-6601-2165, PMID:23371018, PMID:24425852]"
HP:0032417,"""Circumferential fibrosis in the interstitium surrounding Bowman's capsule"" [PMID:21204717, PMID:32866505]"
HP:0032418,"""An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm)."" [PMID:17291473]"
HP:0032419,"""Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm."" [PMID:17291473]"
HP:0032420,"""An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm."" [PMID:17291473]"
HP:0032421,"""A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm."" [PMID:17291473]"
HP:0032422,"""Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm."" [PMID:17291473]"
HP:0032423,"""A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm."" [PMID:17291473]"
HP:0032424,"""An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm."" [PMID:17291473]"
HP:0032425,"""Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm."" [PMID:17291473]"
HP:0032426,"""Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm."" [PMID:17291473]"
HP:0032427,"""Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm."" [PMID:17291473]"
HP:0032428,"""An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm."" [PMID:17291473]"
HP:0032429,"""A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm."" [PMID:17291473]"
HP:0032430,"""An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm."" [PMID:17291473]"
HP:0032431,"""A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm."" [PMID:17291473]"
HP:0032432,"""An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm."" [PMID:17291473]"
HP:0032433,"""A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm."" [PMID:17291473]"
HP:0032434,"""Separation of the umbilical cord occurs at an abnormally late timepoint."" [PMID:11483823]"
HP:0032435,"""An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period."" [PMID:30020710]"
HP:0032436,"""Any deviation from the normal concentration of C-reactive protein in the blood circulation."" []"
HP:0032437,"""An abnormal decrease of the C-reactive protein level in serum."" [PMID:17852082, UCDenver:tjcallahan]"
HP:0032438,"""Abnormally increased variability in the size of platelets."" [PMID:18065693]"
HP:0032439,"""An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen."" [PMID:30408667, PMID:8077583]"
HP:0032440,"""ABO phenotype B, corresponding to the genotype BO or BB."" []"
HP:0032441,"""ABO phenotype AB, corresponding to the genotype AB."" []"
HP:0032442,"""ABO phenotype O, corresponding to the genotype OO."" []"
HP:0032443,"""In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc."" []"
HP:0032444,"""The affected individual has received an organ transplant previous to the current medical encounter."" []"
HP:0032445,"""A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid."" [PMID:20028879]"
HP:0032446,"""Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema."" [PMID:18195376, PMID:20028879, PMID:24106540]"
HP:0032447,"""A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura."" [PMID:12934786, PMID:18195376, PMID:20028879]"
HP:0032448,"""A condition in which production of hydrochloric acid in the stomach is absent."" [PMID:29939570]"
HP:0032449,"""An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane."" [PMID:25487405, PMID:26017636]"
HP:0032450,"""Detection of arsenic in the blood circulation."" []"
HP:0032451,"""Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented."" [PMID:24034073, PMID:26538887]"
HP:0032452,"""Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions."" [PMID:24034073]"
HP:0032453,"""Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal."" []"
HP:0032454,"""Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture."" [PMID:24034073, PMID:26538887]"
HP:0032455,"""Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry."" [PMID:20142805]"
HP:0032456,"""A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter."" [COST:neuromig]"
HP:0032457,"""Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity."" [COST:neuromig, PMID:28440899]"
HP:0032458,"""A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located."" [PMID:15894597]"
HP:0032459,"""Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate."" [PMID:4200723]"
HP:0032460,"""Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate."" [PMID:17701900, PMID:20301731]"
HP:0032462,"""An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation."" [PMID:29167646]"
HP:0032463,"""A reduction below the normal concentration of fibronectin the the blood circulation."" [PMID:27185500]"
HP:0032464,"""Underdevelopment of the ureter."" [ORCID:0000-0001-5208-3432]"
HP:0032465,"""Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface."" [ORCID:0000-0001-5208-3432, PMID:28904941]"
HP:0032466,"""Lack of formation (congenital absence) of the olfactory bulb."" [ORCID:0000-0001-5208-3432, PMID:27863011]"
HP:0032467,"""Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies."" []"
HP:0032468,"""One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation)."" []"
HP:0032469,"""Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation."" [PMID:26000135]"
HP:0032470,"""The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture."" [PMID:22884362]"
HP:0032471,"""Polymicrogyria affecting one or multiple small areas of the cerebral cortex."" [COST:neuromig, PMID:20198472, PMID:22427329]"
HP:0032472,"""An abnormal concentration of urobilinogen in the urine."" []"
HP:0032473,"""An abnormally reduced concentration of urobilinogen in the urine."" []"
HP:0032475,6-layered lissencephaly
HP:0032476,"""An abnormal concentration of vitamin B6 in the blood circulation."" []"
HP:0032477,"""An abnormally increased concentration of vitamin B6 in the blood circulation."" []"
HP:0032478,"""Protrusion of the arachnoid and dura through spinal foramina."" [PMID:24311540]"
HP:0032479,"""It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development."" [PMID:27545678]"
HP:0032480,"""An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine."" [PMID:30823446]"
HP:0032481,"""Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081)."" []"
HP:0032482,"""An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081)."" []"
HP:0032484,"""An elevated concentration of sodium in feces."" [PMID:26358773]"
HP:0032485,"""Abnormal concentration of feces as assessed by the total number of solute particles per kilogram."" []"
HP:0032486,"""Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram."" []"
HP:0032487,"""Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram."" []"
HP:0032488,"""Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline."" []"
HP:0032489,"""Abnormally high fecal pH, i.e., abnormal alkalinity of feces."" []"
HP:0032490,"""Abnormally low fecal pH, i.e., abnormal acidity of feces."" []"
HP:0032491,"""An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation."" [PMID:22241104, UCDenver:tjcallahan]"
HP:0032492,"""Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein."" [OHSU:jpgourdine, PMID:28533781]"
HP:0032493,"""An abnormally high concentration of trypsinogen in the blood circulation."" [PMID:27131402]"
HP:0032495,"""A deviation from the normal proportion of terminal to vellus hairs."" [PMID:12894995]"
HP:0032496,"""An increased proportion of terminal hairs compared to vellus hairs."" [PMID:23044568]"
HP:0032497,"""A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia."" [PMID:23044568]"
HP:0032499,"""The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation."" [PMID:9665278]"
HP:0032500,"""Applied to a sign or symptom that is worsened by smoking tobacco products."" []"
HP:0032501,"""Applied to a sign or symptom that is worsened by taking contraceptive medication."" []"
HP:0032502,"""Applied to a sign or symptom that is worsened by taking barbituates."" []"
HP:0032503,"""Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol)."" []"
HP:0032504,"""An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk."" [PMID:26019410]"
HP:0032505,"""Pharyngeal spasms provoked by an attempt to drink."" [PMID:30564365]"
HP:0032506,"""Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb."" [PMID:23572346]"
HP:0032507,"""Fasciculations affecting the tongue muscle and the musculature of the chin."" []"
HP:0032508,"""Habitual insertion of foreign bodies into bodily orifices."" [PMID:22690353]"
HP:0032509,"""Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails."" [PMID:26985115]"
HP:0032510,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon."" []"
HP:0032511,"""The position of the umbilicus (belly button) is abnormally high (superior)."" []"
HP:0032513,"""Four-vessel umbilical cord containing two arteries and two veins."" [PMID:21391749]"
HP:0032514,"""A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face."" [PMID:19875171]"
HP:0032515,"""A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements."" [PMID:20092423]"
HP:0032516,"""Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails."" [PMID:20092423]"
HP:0032517,"""Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles."" [PMID:22435879, PMID:29861637]"
HP:0032518,"""A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs."" [PMID:20092423, PMID:29861637]"
HP:0032519,"""Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals."" [PMID:5614071]"
HP:0032520,"""Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw."" []"
HP:0032521,"""Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting."" [PMID:8132119]"
HP:0032522,"""Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication."" []"
HP:0032523,"""An abnormal increase in the thickness (diameter) of a tendon."" [PMID:24932450]"
HP:0032524,"""Length of the thumb is greater than normal."" [PMID:7246605]"
HP:0032525,"""Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon)."" []"
HP:0032526,"""Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon."" []"
HP:0032527,"""The position of the umbilicus (belly button) is abnormally low (inferior)."" []"
HP:0032528,"""An increased amount of 4-hydroxybutyric acid in the urine."" []"
HP:0032530,"""Reduced level of succinic semialdehyde dehydrogenase (SSADH)."" [PMID:25485164]"
HP:0032531,Elevated CSF gamma-aminobutyric acid concentration
HP:0032532,"""Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF)."" [PMID:25485164]"
HP:0032533,"""An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies."" [PMID:28278308]"
HP:0032534,"""Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate)."" []"
HP:0032535,"""Applies to an abnormality that is situated in the neck."" []"
HP:0032536,"""An abnormally elevated number of lymph nodes in an anatomical region."" [PMID:20301630]"
HP:0032537,"""A delay in healing of a fracture past the expected duration."" [PMID:24857030]"
HP:0032538,"""A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg."" [PMID:23444103]"
HP:0032539,"""Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint."" []"
HP:0032540,"""Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed)."" []"
HP:0032541,"""Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern."" [PMID:26672439]"
HP:0032542,"""Applied to a sign or symptom that is worsened by being pregnant."" []"
HP:0032543,"""Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen."" [PMID:23949189, PMID:29970776]"
HP:0032544,"""Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck."" []"
HP:0032545,"""Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area."" []"
HP:0032546,"""A voluntary contraction of the abdominal wall musculature to avoid pain."" []"
HP:0032547,"""An abnormal decrease of the pressure within the eye."" [PMID:26253854]"
HP:0032548,"""Abnormally elevated placental thickness."" [PMID:25077064]"
HP:0032549,"""Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers."" [PMID:441119]"
HP:0032550,"""Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets."" [ORCID:0000-0001-9969-8610, PMID:21250106, PMID:26331020]"
HP:0032551,"""Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain."" [PMID:21766771]"
HP:0032552,"""An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart."" []"
HP:0032553,"""A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse."" []"
HP:0032554,"""The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination."" []"
HP:0032555,"""Increased amplitude (strength) of the pulse."" []"
HP:0032556,"""Persistent blue color of the skin that surrounds the mouth."" [PMID:2797223]"
HP:0032557,"""A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor."" [PMID:24198516]"
HP:0032558,"""Sperm cells lacking flagella."" [PMID:30867909]"
HP:0032559,"""Sperm cells with abnormally short flagella."" [PMID:30867909]"
HP:0032560,"""Sperm cells whose flagella are twisted (coiled)."" [PMID:28552195]"
HP:0032561,"""Decreased size of the head of sperm."" []"
HP:0032562,"""Sperm with cigar-shaped heads that gradually dimish in diameter (taper)."" [PMID:28692759]"
HP:0032563,"""Presence of teardrop-shaped red blood cells."" [ORCID:0000-0001-9969-8610, PMID:21250106]"
HP:0032564,"""Inflammation of the ileum."" [PMID:20532706]"
HP:0032565,Vaginal mucosal ulceration
HP:0032566,"""Enlarged, oval-shaped erythrocytes (red blood cells)."" [ORCID:0000-0001-9969-8610, PMID:16988104, PMID:19202968, PMID:28821482]"
HP:0032567,"""An increased lipid content in the urine."" [ORCID:0000-0001-9969-8610, PMID:26124059, PMID:29950951]"
HP:0032568,"""Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance."" [PMID:28593486]"
HP:0032569,Temporal bossing
HP:0032570,"""Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons."" [PMID:16324092]"
HP:0032571,"""An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization."" [PMID:30918116]"
HP:0032572,"""A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U)."" []"
HP:0032573,"""Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond."" [PMID:30847922]"
HP:0032574,"""Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond."" [PMID:30847922]"
HP:0032575,"""A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid."" [PMID:25102815]"
HP:0032576,"""Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol."" [ORCID:0000-0001-5208-3432, PMID:10581255, PMID:16053906, PMID:28575298]"
HP:0032577,"""Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone."" [PMID:24688753]"
HP:0032578,"""An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus."" [PMID:30542631]"
HP:0032579,"""A benign focal growth composed of vascular tissue."" [NCIT:C3438]"
HP:0032580,"""Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis."" [PMID:25274757]"
HP:0032581,"""Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid."" [PMID:25813241]"
HP:0032582,"""Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles."" [PMID:19672113, PMID:25887903]"
HP:0032583,Renal glomerular foam cells
HP:0032584,"""Increased numbers of neutrophils in the interstitial tissues of the kidney."" [PMID:29537990]"
HP:0032585,"""Increased numbers of eosinophils in the interstitial tissues of the kidney."" [PMID:10052481, PMID:20336051]"
HP:0032586,"""Increased numbers of plasma cells in the interstitial tissues of the kidney."" [PMID:28904438]"
HP:0032587,"""The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney."" [PMID:23221343]"
HP:0032588,"""Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects."" [PMID:20345957]"
HP:0032589,"""Infiltration of the renal tubular epithelium by lymphocytes."" [PMID:29537990]"
HP:0032590,"""Infiltration of the renal tubular epithelium by neutrophils."" [PMID:29537990]"
HP:0032591,"""Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney."" [PMID:26491580]"
HP:0032592,"""Congenital absence of the right-sided diaphragm."" []"
HP:0032593,"""A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented."" [PMID:28398539]"
HP:0032594,"""Naked basement membranes without tubular epithelium."" [PMID:29875323]"
HP:0032595,"""Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved."" [PMID:29537990]"
HP:0032596,"""Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size."" [PMID:29537990]"
HP:0032597,"""At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast."" [PMID:29537990]"
HP:0032598,"""Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule."" [PMID:29537990]"
HP:0032599,"""Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine."" []"
HP:0032600,"""Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell."" [PMID:29537990]"
HP:0032601,"""Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view."" [PMID:29537990]"
HP:0032602,"""Tubular epithelium with nucleoli clearly visible at 100-fold magnification."" [PMID:29537990]"
HP:0032603,"""Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts."" [PMID:29537990]"
HP:0032604,"""Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration."" [PMID:29537990]"
HP:0032605,"""At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei."" [PMID:29537990]"
HP:0032606,"""Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules."" [PMID:31076149]"
HP:0032607,"""Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen."" [PMID:29537990]"
HP:0032608,"""A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts."" [KPMP:arosenberg, PMID:27211375]"
HP:0032609,"""A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes."" [KPMP:arosenberg, PMID:27211375, PMID:7906246]"
HP:0032610,"""Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation."" [PMID:23303798]"
HP:0032611,"""Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment."" [KPMP:arosenberg, PMID:25441434, PMID:29537990]"
HP:0032612,"""A hallux (big toe) with three phalanges in a single, proximo-distal axis."" [PMID:19760621, PMID:22486404]"
HP:0032613,"""Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation."" [KPMP:arosenberg, PMID:25852856]"
HP:0032614,"""Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries."" [PMID:21427073]"
HP:0032615,"""A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images."" [ORCID:0000-0002-7440-8864, PMID:11058626]"
HP:0032616,"""Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining)."" [PMID:11423587, PMID:28509073]"
HP:0032617,"""A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core."" [KPMP:arosenberg, PMID:20709744, PMID:29537990]"
HP:0032618,"""Cell death (necrosis) affecting one or more parts of the kidney."" []"
HP:0032619,"""A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney)."" []"
HP:0032620,"""An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis."" [KPMP:arosenberg, PMID:27998164]"
HP:0032621,"""At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes."" [KPMP:arosenberg, PMID:29537990]"
HP:0032622,"""Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen."" [KPMP:arosenberg, PMID:29537990]"
HP:0032623,"""Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast."" [KPMP:arosenberg, PMID:29537990]"
HP:0032624,"""A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green)."" [PMID:28398539]"
HP:0032625,"""Casts that contain red blood cells and are located within the tubuli of the kidney."" [PMID:21959738]"
HP:0032626,"""Intratubular casts composed of vancomycin aggregates and uromodulin."" []"
HP:0032627,"""Casts that contain white blood cells and are located within the tubuli of the kidney."" []"
HP:0032628,Renal intratubular crystals
HP:0032629,"""Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver."" [PMID:20064951]"
HP:0032630,"""The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules."" [KPMP:arosenberg, PMID:26916380]"
HP:0032631,"""A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A."" [KPMP:arosenberg, PMID:25441434]"
HP:0032632,"""Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei."" [PMID:28584810]"
HP:0032633,"""A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends."" [KPMP:arosenberg, PMID:393892]"
HP:0032634,"""Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells."" [KPMP:arosenberg, PMID:28115066, PMID:29942498]"
HP:0032635,"""Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain."" [KPMP:arosenberg]"
HP:0032636,"""Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry."" []"
HP:0032637,"""Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density."" [KPMP:arosenberg, PMID:24454932]"
HP:0032638,"""An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid."" [PMID:3680522]"
HP:0032639,"""An increased concentration of cystine within white blood cells."" [PMID:27102039, PMID:31892015]"
HP:0032640,"""An increased concentration of C-C motif chemokine ligand 18 in the blood circulation."" [PMID:15784687]"
HP:0032641,"""Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present."" [KPMP:arosenberg, PMID:26413275]"
HP:0032642,"""An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation."" [KPMP:arosenberg, PMID:31723695]"
HP:0032643,"""Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis."" [KPMP:arosenberg]"
HP:0032644,"""Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney."" []"
HP:0032645,"""Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei)."" [KPMP:arosenberg]"
HP:0032646,"""Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells."" [PMID:21526966]"
HP:0032647,"""Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris."" [KPMP:arosenberg, PMID:29537990]"
HP:0032648,"""The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus."" [PMID:29537990]"
HP:0032649,"""A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus."" [PMID:9916191]"
HP:0032650,"""Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid."" [PMID:31892365]"
HP:0032651,"""Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid."" [PMID:31892365]"
HP:0032652,"""Increased concentration of chitotriosidase 1 in cerebrospinal fluid."" [PMID:31892365]"
HP:0032653,"""An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation."" [PMID:28088395]"
HP:0032654,"""Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery."" [PMID:11069434]"
HP:0032655,"""A reduced concentration of tocopherol in fat tissue."" [PMID:27520363]"
HP:0032656,"""A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult."" [ORCID:0000-0002-1735-8178, PMID:22742587, PMID:24502379, PMID:26336950]"
HP:0032657,"""An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation."" [PMID:29288396, PMID:30875019]"
HP:0032658,"""Status epilepticus with prominent motor signs during the prolonged seizure."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032659,"""A type of status epilepticus without prominent motor symptoms and in the presence of coma."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032660,"""A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.\ncomment: \nsource: \nseeAlso: Tonic-clonic status epilepticus"" [ORCID:0000-0002-1735-8178, PMID:22528274, PMID:26336950, PMID:26900382, PMID:9924914]"
HP:0032661,"""A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032662,"""A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus."" [PMID:26336950]"
HP:0032663,"""Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032664,"""A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032665,"""A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus."" [ORCID:0000-0002-1735-8178, PMID:21070217, PMID:26336950]"
HP:0032666,"""Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032667,"""A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032668,"""A type of myoclonic status epilepticus in the absence of coma."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032669,"""A type of myoclonic status epilepticus in the presence of coma."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032670,"""Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032671,"""A type of status epilepticus without prominent motor symptoms in the absence of coma."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032672,"""Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032673,"""Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure."" [ORCID:0000-0002-1735-8178, PMID:26336950]"
HP:0032674,"""A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time."" [PMID:10471461]"
HP:0032675,"""A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin."" [PMID:30475656]"
HP:0032676,"""A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result."" [PMID:8166487]"
HP:0032677,"""A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032678,"""An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness."" [HPO:epilepsiome, PMID:19469840]"
HP:0032679,"""A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation."" [PMID:28276060, PMID:28276064]"
HP:0032680,"""A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure."" [PMID:28276060, PMID:28276064]"
HP:0032681,"""A focal aware cognitive seizure during which awareness is retained throughout the seizure."" [PMID:28276060, PMID:28276064]"
HP:0032682,"""A focal non-motor seizure in which awareness is retained throughout the seizure."" [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]"
HP:0032684,"""A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032685,"""A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing."" [PMID:28276060]"
HP:0032686,"""A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032687,"""A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia)."" [PMID:17444534]"
HP:0032688,"""A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032689,"""A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation."" [PMID:28276060]"
HP:0032690,"""A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032691,"""A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation."" [PMID:28276060]"
HP:0032692,"""A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation."" [PMID:28276060]"
HP:0032693,"""A focal cognitive seizure characterized by neglect as the initial semiological manifestation."" [PMID:28276060]"
HP:0032694,"""A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation."" [PMID:28276060]"
HP:0032696,"""A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation."" [PMID:28276060]"
HP:0032698,"""A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation."" [PMID:28276060]"
HP:0032699,"""A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation."" [PMID:28276060]"
HP:0032700,"""A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation."" [PMID:28276060]"
HP:0032701,"""A focal cognitive seizure characterized by anomia as the initial semiological manifestation."" [PMID:28276060]"
HP:0032702,"""A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation."" [PMID:28276060]"
HP:0032704,"""A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032705,"""A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032706,"""A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032707,"""A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032708,"""A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032709,"""A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032710,"""A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032711,"""A type of focal clonic seizure during which awareness is fully retained throughout."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032712,"""A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032713,"""A focal motor seizure with version characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032714,"""A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032715,"""A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset."" [PMID:28276060]"
HP:0032716,"""A focal non-motor seizure characterized by impaired awareness at some point during the seizure."" [PMID:28276060, PMID:28276064]"
HP:0032717,"""A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032718,"""A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures."" [PMID:28276060]"
HP:0032719,"""A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032720,"""A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible."" [PMID:28276060]"
HP:0032721,"""A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation."" [PMID:28276060]"
HP:0032722,"""A type of focal tonic seizure during which awareness is fully retained throughout."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032723,"""A focal motor seizure with dystonia characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032724,"""A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032725,"""A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032726,"""A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032727,"""Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures."" [PMID:28276060]"
HP:0032728,"""A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032729,"""Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy."" [PMID:28276060, PMID:28276064]"
HP:0032730,"""A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032731,"""A type of focal hypermotor seizure during which awareness is fully retained throughout."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032732,"""A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032733,"""A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032734,"""A focal emotional seizure during which awareness is retained throughout the seizure."" [PMID:28276060, PMID:28276064]"
HP:0032735,"""Focal emotional seizure with anger in which awareness is retained throughout."" [PMID:28276060]"
HP:0032736,"""Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour."" [PMID:28276060, PMID:28276064]"
HP:0032737,"""Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure."" [PMID:28276060]"
HP:0032738,"""Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout."" [PMID:28276060, PMID:28276064]"
HP:0032739,"""Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures."" [PMID:28276060, PMID:28276064]"
HP:0032740,"""A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout."" [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]"
HP:0032741,"""Focal emotional seizure with paranoia in which awareness is retained throughout."" [PMID:28276060, PMID:28276064]"
HP:0032742,"""Focal emotional seizure with pleasure in which awareness is retained throughout."" [PMID:28276060]"
HP:0032743,"""Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout."" [PMID:28276060]"
HP:0032744,"""Focal emotional seizure with agitation in which awareness is retained throughout."" [PMID:28276060]"
HP:0032745,"""Focal emotional seizure with laughing in which awareness is retained throughout."" [PMID:28276060]"
HP:0032746,"""A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060, PMID:28276064]"
HP:0032747,"""Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060, PMID:28276064]"
HP:0032748,"""Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032749,"""Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032750,"""Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032751,"""Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032752,"""Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060, PMID:28276064]"
HP:0032753,"""A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032754,"""A focal sensory seizure during which awareness is retained throughout the seizure."" [PMID:28276060, PMID:28276064]"
HP:0032755,"""A focal autonomic seizure characterised by impaired awareness at some point within the seizure."" [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]"
HP:0032756,"""A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060, PMID:28276064]"
HP:0032757,"""A focal hemiclonic seizure in which awareness is retained throughout."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032758,"""A type of focal myoclonic seizure during which awareness is fully retained throughout."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032759,"""A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation."" [PMID:28276060]"
HP:0032760,"""A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation."" [PMID:28276060]"
HP:0032761,"""A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032762,"""A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature."" [PMID:28276060]"
HP:0032763,"""A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature."" [PMID:28276060]"
HP:0032764,"""A type of focal autonomic seizure characterised by penile erection as the intial semiological feature."" [PMID:28276060]"
HP:0032765,"""A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature."" [PMID:28276060]"
HP:0032766,"""A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature."" [PMID:28276060]"
HP:0032767,"""A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature."" []"
HP:0032768,"""A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032769,"""An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032770,"""A focal autonomic seizure with erection characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032771,"""A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature."" [PMID:28276060]"
HP:0032772,"""A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032773,"""A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature."" [PMID:28276060]"
HP:0032774,"""A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032775,"""An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032776,Focal aware autonomic seizure with lacrimation
HP:0032777,"""A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032778,"""A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032779,"""A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032780,"""A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032781,"""A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032782,"""A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032783,"""A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032784,"""An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032785,"""A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032786,"""A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations."" [PMID:21788614, PMID:23599387]"
HP:0032787,"""A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032788,"""A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032789,"""A focal behavior arrest seizure characterised by retained awareness throughout the seizure."" [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]"
HP:0032790,"""A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure."" [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]"
HP:0032791,"""A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032792,"""A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening."" [PMID:11580774]"
HP:0032793,"""A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032794,"""A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus."" [PMID:11580774]"
HP:0032795,"""A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus."" [PMID:28276060, PMID:28276064]"
HP:0032796,"""A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032797,"""Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant."" [PMID:28276060]"
HP:0032798,"""A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032799,"""A focal hemiclonic seizure in which awareness is impaired at some point during the seizure."" [PMID:28276060]"
HP:0032800,"""A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation."" [PMID:28276060]"
HP:0032801,"""A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032802,"""A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032803,"""A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032804,"""A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032805,"""A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032806,"""A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032807,"""A seizure occurring within the neonatal period (28 days beyond the full term date)."" [PMID:28276060, PMID:33522601]"
HP:0032808,"""Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation."" [PMID:28276060]"
HP:0032809,"""Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation."" [PMID:28276060]"
HP:0032810,"""A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation."" [PMID:28276060]"
HP:0032811,"""Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation."" [PMID:28276060]"
HP:0032812,Neonatal electro-clinical non-motor seizure
HP:0032813,"""Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features."" [PMID:28276060]"
HP:0032814,"""Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric."" [PMID:28276064]"
HP:0032815,"""Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal)."" [PMID:28276064]"
HP:0032816,"""Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites."" [PMID:28276064]"
HP:0032817,"""Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally."" [PMID:28276064]"
HP:0032818,"""Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups."" [PMID:28276064]"
HP:0032819,"""Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral."" [PMID:28276064]"
HP:0032820,"""Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites."" [PMID:28276064]"
HP:0032821,"""Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes."" [PMID:28276064]"
HP:0032822,"""Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea."" [PMID:28276064]"
HP:0032823,"""Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations."" [PMID:28276064]"
HP:0032824,"""Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes."" [PMID:28276064]"
HP:0032825,"""Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures."" [PMID:28276064]"
HP:0032826,"""Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures."" [PMID:28276064]"
HP:0032827,"""Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs."" [PMID:28276064]"
HP:0032828,"""Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically."" [PMID:28276064]"
HP:0032829,"""Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features."" [PMID:28276060, PMID:28276064]"
HP:0032830,"""Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically."" [PMID:28276060, PMID:28276064]"
HP:0032831,"""Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically."" [PMID:28276064]"
HP:0032832,"""Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically."" [PMID:28276064]"
HP:0032833,"""A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters."" [PMID:28276060]"
HP:0032834,"""Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body."" [PMID:28276060, PMID:28276064]"
HP:0032835,"""Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically."" [PMID:28276060, PMID:28276064]"
HP:0032836,"""Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically."" [PMID:28276064]"
HP:0032837,"""Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures."" [PMID:28276064]"
HP:0032838,"""Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body."" [PMID:28276064]"
HP:0032839,"""Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs."" [PMID:28276064]"
HP:0032840,"""Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body."" [PMID:28276064]"
HP:0032841,"""Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body."" [PMID:28276064]"
HP:0032842,"""A type of epileptic spasm of generalized onset."" [PMID:28276060, PMID:28276064]"
HP:0032843,"""A type of epileptic spasm of focal onset."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032844,"""A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032845,"""A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032846,"""A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure."" [PMID:28276060]"
HP:0032847,"""Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure."" [PMID:28276060]"
HP:0032848,"""A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032849,"""Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit."" [PMID:26336950]"
HP:0032850,"""A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032851,"""A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis."" [PMID:28276060]"
HP:0032852,"""A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032853,"""A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032854,"""Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032855,"""Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light."" [PMID:28276060]"
HP:0032856,"""A type of focal bilateral motor seizure during which awareness is fully retained throughout."" [PMID:28276060]"
HP:0032857,"""A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032858,"""A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032859,"""A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure."" [PMID:28276060]"
HP:0032860,"""Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure."" [PMID:26336950]"
HP:0032861,"""Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired."" [PMID:28276060]"
HP:0032862,"""A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures."" [PMID:17116038, PMID:25667883, PMID:26336950]"
HP:0032863,"""Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure."" [PMID:26336950]"
HP:0032864,"""A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure."" [PMID:28276060]"
HP:0032865,"""Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG."" [PMID:26336950]"
HP:0032866,"""A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges."" [PMID:11967176, PMID:26336950, PMID:2912713]"
HP:0032867,"""Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine."" [PMID:19817823]"
HP:0032868,"""Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent."" [PMID:21914716]"
HP:0032869,"""Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact."" [PMID:26336950]"
HP:0032870,"""A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032871,"""A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032872,"""A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032873,"""A seizure characterized by a sensation in the head such as light-headedness or headache."" [PMID:28276060]"
HP:0032874,"""A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032876,"""A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032877,"""A seizure characterized by sensations of feeling hot and then cold."" [PMID:28276060]"
HP:0032878,"""A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032879,"""A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure."" [PMID:28276060]"
HP:0032880,"""A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032882,"""A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032883,"""A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032884,"""A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure."" [PMID:28276060]"
HP:0032885,"""A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032886,"""A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032887,"""Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature."" [PMID:28276060, PMID:28276064]"
HP:0032888,"""A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure."" [PMID:28276060]"
HP:0032889,"""A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes."" [PMID:28276060]"
HP:0032890,"""A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032891,"""A focal motor seizure with version characterized by retained awareness throughout the seizure."" [PMID:28276060]"
HP:0032892,"""Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever."" [PMID:28276060]"
HP:0032893,"""Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause."" [PMID:12453597, PMID:29935410]"
HP:0032894,"""Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age."" [PMID:28276060]"
HP:0032895,"""Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure."" [PMID:30078767, PMID:9126059]"
HP:0032896,"""Seizure precipitated by listening to music or other complex sounds."" [PMID:11422340]"
HP:0032897,"""A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060]"
HP:0032898,"""A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity."" [PMID:11580774, PMID:28276060, PMID:28276064]"
HP:0032899,"""A type of focal automatism seizure characterized by orofacial automatisms at onset."" [PMID:28276060]"
HP:0032900,"""A type of focal automatism seizure characterized by manual automatisms at onset."" [PMID:28276060]"
HP:0032901,"""A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs."" [PMID:28276060]"
HP:0032902,"""A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset."" [PMID:28276060]"
HP:0032903,"""A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset."" [PMID:28276060]"
HP:0032904,"""A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset."" [PMID:28276060]"
HP:0032905,"""A type of focal automatism seizure characterized by involuntary sexual behavior at onset."" [PMID:28276060]"
HP:0032906,"""A type of focal automatism seizure characterized by involuntary head nodding at onset."" [PMID:28276060]"
HP:0032907,"""A type of focal automatism seizure characterized by involuntary undressing at onset."" [PMID:28276060]"
HP:0032908,"""A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout."" [PMID:28276060]"
HP:0032909,"""A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure."" [PMID:28276060, PMID:28276064]"
HP:0032910,"""A type of focal automatism seizure during which awareness is fully retained throughout."" [PMID:28276060]"
HP:0032911,"""A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout."" [PMID:28276060]"
HP:0032912,"""A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout."" [PMID:28276060]"
HP:0032913,"""A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs."" [PMID:28276060]"
HP:0032914,"""A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout."" [PMID:28276060]"
HP:0032915,"""A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout."" [PMID:28276060]"
HP:0032916,"""A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout."" [PMID:28276060]"
HP:0032917,"""A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout."" [PMID:28276060]"
HP:0032918,"""A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset."" [PMID:28276060]"
HP:0032919,"""A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout."" [PMID:28276060]"
HP:0032920,"""A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset."" [PMID:28276060]"
HP:0032921,"""A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs."" [PMID:28276060]"
HP:0032922,"""A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset."" [PMID:28276060]"
HP:0032923,"""A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset."" [PMID:28276060]"
HP:0032924,"""A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset."" [PMID:28276060]"
HP:0032925,"""A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset."" [PMID:28276060]"
HP:0032926,"""A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset."" [PMID:28276060]"
HP:0032927,"""A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset."" [PMID:28276060]"
HP:0032928,"""Definition: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases."" [PMID:31182505]"
HP:0032929,"""Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage."" []"
HP:0032930,"""Concentric rings around the chondrocytes."" [PMID:8571951]"
HP:0032932,"""An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma)."" [PMID:28431198]"
HP:0032933,"""An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist."" [PMID:12629006]"
HP:0032934,"""A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak)."" [PMID:19225307, PMID:22929030]"
HP:0032935,"""Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin."" [PMID:19682623]"
HP:0032936,"""Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context."" [PMID:15487537]"
HP:0032937,"""After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory."" [PMID:30293686]"
HP:0032938,"""Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events."" [PMID:17431265]"
HP:0032939,"""Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s)."" [PMID:26611143]"
HP:0032940,"""A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration."" [PMID:25994026]"
HP:0032941,"""Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events."" [PMID:17431265]"
HP:0032942,"""Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s)."" [PMID:17431265]"
HP:0032943,"""A deviation of urine pH from the normal range of 4.5 to 7.8."" []"
HP:0032944,"""Urine pH of 8 or higher."" []"
HP:0032945,"""Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells."" [KPMP:arosenberg]"
HP:0032946,"""Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells."" [KPMP:arosenberg]"
HP:0032947,"""Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells."" [KPMP:arosenberg]"
HP:0032948,"""The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic."" [PMID:22449945]"
HP:0032949,"""The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits."" [KPMP:arosenberg, PMID:21804087]"
HP:0032950,"""Abnormal structure or form of the lumen (opening) of kidney tubules."" [PMID:23101152]"
HP:0032951,"""Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells."" [PMID:21436288, PMID:29273157]"
HP:0032952,"""A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis."" [PMID:7906246]"
HP:0032953,"""Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages."" []"
HP:0032954,"""Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage."" [KPMP:arosenberg, PMID:29273157]"
HP:0032955,"""Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection."" []"
HP:0032956,"""Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis."" [KPMP:arosenberg, PMID:27884285]"
HP:0032957,"""The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria."" [PMID:16362157]"
HP:0032958,"""The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets."" [PMID:13171348]"
HP:0032959,"""Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney."" [KPMP:arosenberg]"
HP:0032960,"""Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney."" [KPMP:arosenberg]"
HP:0032961,"""Magnesium ammonium phosphate crystals in the urine."" []"
HP:0032962,"""Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border."" []"
HP:0032963,"""A renal cyst characterized by epithelium lined space (squamous/columnar) with septations."" [KPMP:arosenberg, PMID:18776117]"
HP:0032964,"""The presence of uric acid crystals in the urine."" [PMID:25045326, PMID:8671802]"
HP:0032965,"""Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts."" [LMU:crapp, PMID:18195376]"
HP:0032966,"""A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones."" [LMU:kknoflach, PMID:18195376, PMID:4014865, PMID:7976869]"
HP:0032967,"""Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis."" [LMU:mgriese, PMID:1395384, PMID:18195376, PMID:8370825]"
HP:0032968,"""Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration."" [LMU:crapp, PMID:10524809, PMID:18195376, PMID:7972745]"
HP:0032969,"""Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts."" [LMU:crapp, PMID:18195376, PMID:3786716]"
HP:0032970,Traction bronchiolectasis
HP:0032971,"""CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm."" [LMU:mgriese, PMID:18195376, PMID:3864189]"
HP:0032972,"""A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases."" [LMU:kknoflach]"
HP:0032973,"""Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions."" [LMU:mgriese]"
HP:0032974,"""Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%."" [ISBN:0412792702, LMU:mgriese, PMID:10678650, PMID:3396403]"
HP:0032975,"""Any deviation from the normal concentration of protein in the bronchoalveolar fluid."" []"
HP:0032976,"""Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases."" [ISBN:0412792702, LMU:kknoflach, PMID:10678650, PMID:3396403]"
HP:0032977,"""Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases."" [ISBN:0412792702, LMU:kknoflach, PMID:10678650, PMID:3396403]"
HP:0032978,"""Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions."" [ISBN:0412792702, LMU:kknoflach, PMID:11757629]"
HP:0032979,"""Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP)."" [LMU:mgriese, PMID:16871595, PMID:23678356, PMID:25515792, PMID:28166761]"
HP:0032980,"""Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region."" [LMU:crapp, PMID:26375475]"
HP:0032981,"""Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid."" [LMU:kknoflach, PMID:26375475]"
HP:0032983,"""CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis."" [LMU:crapp, PMID:10414267, PMID:15908556, PMID:22553298]"
HP:0032984,"""Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles."" [ISBN:0412792702., LMU:mgriese]"
HP:0032985,"""Accumulation of inhaled, nondigestable particles in macrophages."" [ISBN:0412792702, LMU:mgriese, PMID:3740951]"
HP:0032986,"""In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits."" [ISBN:0412792702, LMU:mgriese]"
HP:0032987,"""Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced."" [ISBN:0412792702, LMU:mgriese, PMID:10678650, PMID:3396403]"
HP:0032988,"""The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes."" [PMID:26709421]"
HP:0032989,"""Delayed ahcievement of the ability to roll front to back and back to front."" []"
HP:0032990,"""Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder."" [LMU:kknoflach]"
HP:0032991,"""An abnormal form or number of the pulmonary fissures."" [LMU:mgriese]"
HP:0032992,"""An abnormal form or location of a pulmonary fissure."" []"
HP:0032993,"""A deviation from the normal number of pulmonary fissures."" []"
HP:0032994,"""Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes."" []"
HP:0032995,"""Lack of one or more of the normal pulmonary fissures."" []"
HP:0032996,"""Any deviation from the normal concentration of cystatin C in serum or plasma."" [ORCID:0000-0002-8169-9049, PMID:24570004]"
HP:0032997,"""A decreased concentration of cystatin C in the blood circulation."" [ORCID:0000-0002-8169-9049, PMID:24570004]"
HP:0032998,"""A elevated concentration of cystatin C in the blood circulation."" [ORCID:0000-0002-8169-9049, PMID:24570004]"
HP:0032999,"""Abnormally high concentration of fecal porphyrins in feces."" [ORCID:0000-0002-8169-9049, PMID:25372274]"
HP:0033000,"""Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure."" [LMU:mgriese, PMID:31680234]"
HP:0033001,"""A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx."" [PMID:30828624]"
HP:0033002,"""A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus."" [PMID:32309132]"
HP:0033003,"""A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea."" [PMID:32309132]"
HP:0033004,"""Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV)."" [PMID:17210977]"
HP:0033005,"""Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV)."" [PMID:17210977]"
HP:0033006,"""Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation."" [LMU:mgriese, PMID:28570160, PMID:32364264]"
HP:0033007,"""Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss."" [LMU:mgriese, PMID:25489125]"
HP:0033008,"""Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005)."" []"
HP:0033009,"""Abnormally high concentration of coproporphyrin 3 in feces."" [ORCID:0000-0002-8169-9049, PMID:3327428]"
HP:0033010,"""Abnormally high concentration of coproporphyrin 3 in feces"" [ORCID:0000-0002-8169-9049, PMID:3327428]"
HP:0033011,"""Extreme width of the skull in the occipital region, with anterior narrowing and prognathism."" [PMID:31839203]"
HP:0033012,"""Any deviation from the normal concentration of a metabolite in saliva."" []"
HP:0033013,"""Any deviation from the normal concentration of cortisol in saliva."" [ORCID:0000-0002-8169-9049, PMID:18280810, PMID:19602555]"
HP:0033014,"""Abnormally reduced concentration of cortisol in saliva."" [ORCID:0000-0002-8169-9049, PMID:18280810, PMID:19602555]"
HP:0033015,"""Abnormally elevated concentration of cortisol in saliva."" [ORCID:0000-0002-8169-9049, PMID:18280810, PMID:19602555]"
HP:0033016,"""A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood."" []"
HP:0033017,"""A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation."" []"
HP:0033018,"""A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured."" []"
HP:0033019,"""A neoplasm that affects the male reproductive system."" []"
HP:0033020,"""A neoplasm that affects the female reproductive system."" []"
HP:0033021,"""A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood."" []"
HP:0033022,"""A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood."" []"
HP:0033023,"""A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured."" []"
HP:0033024,"""A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation."" []"
HP:0033025,"""A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured."" []"
HP:0033026,"""A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed."" [PMID:23762643]"
HP:0033027,"""A pebbly orange appearance of the fundus that is said to resemble the skin of an orange."" [PMID:25526100]"
HP:0033028,"""The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP."" [LMU:chrapp, PMID:15804705, PMID:29796907]"
HP:0033030,"""The presence of autoantibodies in the serum that react to the glomerular basement membrane."" [LMU:kknoflach, PMID:20660402]"
HP:0033031,"""An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit)."" [HPO:nvasilevsky, PMID:16818546]"
HP:0033032,"""Applies to a sign or symptom that is induced by an abusive adult (usually a parent)."" [LMU:chrapp, PMID:29938745]"
HP:0033033,"""The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5)."" [LMU:kknoflach, PMID:32270621]"
HP:0033034,"""The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen."" [LMU:mgriese, PMID:21713412, PMID:27824549]"
HP:0033035,"""Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function."" [ORCID:0000-0002-9553-7227, PMID:31760652]"
HP:0033036,"""Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure."" [PMID:28481653]"
HP:0033037,Migratory arthritis
HP:0033038,"""The presence of autoantibodies in the serum that react to RNA-polymerase III."" [LMU:chrapp, PMID:31858335]"
HP:0033039,"""The presence of high titers of antigen-precipitating IgG in the serum."" [LMU:chrapp, PMID:22796841, PMID:26310038]"
HP:0033040,"""The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles."" [LMU:kknoflach, PMID:31552434]"
HP:0033041,"""Excessive or uncontrolled release of proinflammatory cytokines."" [PMID:22390970]"
HP:0033042,"""Any structural anomaly of the fetal part of the placenta, which is known as the chorion."" [PMID:18755720]"
HP:0033043,"""Swelling of the chorionic villi owing to fluid accumulation."" [PMID:26992676]"
HP:0033044,"""Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones."" [PMID:27354457, PMID:31737722]"
HP:0033045,"""A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid)."" []"
HP:0033046,"""Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria."" [PMID:28566412, PMID:32509269]"
HP:0033047,"""Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body."" []"
HP:0033048,"""Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI)."" []"
HP:0033049,"""Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI)."" []"
HP:0033050,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat."" []"
HP:0033051,"""A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia."" [PMID:28631987]"
HP:0033052,"""Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging."" []"
HP:0033053,"""Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges."" [PMID:23251092]"
HP:0033054,"""A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures."" [PMID:29416935]"
HP:0033055,"""Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity."" [HPO:nvasilevsky, NCIT:C121469, PMID:26039846]"
HP:0033056,"""Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine."" [HPO:nvasilevsky, NCIT:C121469, PMID:26039846]"
HP:0033057,"""Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9."" [PMID:26841934]"
HP:0033058,"""A reduced level of the complement component C7 in the blood circulation."" [PMID:17407100]"
HP:0033059,"""A reduced level of the complement component C6 in the blood circulation."" [PMID:10632667]"
HP:0033060,"""A reduced level of the complement component C5 in the blood circulation."" [PMID:23371790]"
HP:0033061,"""Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa."" [PMID:19846852]"
HP:0033062,"""Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa."" []"
HP:0033063,"""A tendency to sleep less hours than usual while feeling well rested."" [PMID:31473062]"
HP:0033064,"""Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC)."" [PMID:32606714]"
HP:0033065,"""The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol)."" [PMID:30571025]"
HP:0033066,"""The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol)."" [PMID:30571025]"
HP:0033067,Cystine crystalluria
HP:0033068,"""A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance."" [PMID:8671802]"
HP:0033069,"""An increased number of IgG4+ plasma cells in the interstitial space of the kidney."" [PMID:21719792, PMID:29359118]"
HP:0033070,"""Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior."" [NCIT:C121466, PMID:26039846]"
HP:0033071,"""Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal."" [NCIT:C121470, PMID:26039846]"
HP:0033072,"""Anomalous physical appearance (color, cloudiness, clarity) or odor of urine."" []"
HP:0033073,"""Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi."" [PMID:9195521]"
HP:0033074,"""Amelioration of anemia upon treatment with a steroid medication."" [PMID:20651069]"
HP:0033075,"""A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3."" [PMID:12519407, PMID:28932413]"
HP:0033076,"""A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects."" [PMID:30725738]"
HP:0033077,"""An elevated concentration of free thyroxine (fT4) in the blood circulation."" []"
HP:0033078,"""A reduced concentration of free thyroxine (fT4) in the blood circulation."" []"
HP:0033079,"""Absence or underdevelopment of the thyroid gland."" []"
HP:0033080,"""Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test."" []"
HP:0033081,"""Failure to increase serum TSH levels in response to a TRH stimulation test."" [PMID:29935915]"
HP:0033082,"""A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test."" []"
HP:0033083,"""An elevated level of farnesol in the blood circulation."" [PMID:29909962]"
HP:0033084,"""Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve."" []"
HP:0033085,"""A count of antral follicles that is lower than normal for age."" [PMID:30010909]"
HP:0033086,"""A count of antral follicles that is higher than normal for age."" [PMID:32656532]"
HP:0033087,"""Fever that occurs at daily intervals."" [PMID:28546530]"
HP:0033088,"""Urine valine level above the normal range."" [NSTRN:jmiller]"
HP:0033089,"""An increased level of a branched chain family amino acid in the urine."" []"
HP:0033090,"""An elevated level of an aromatic amino acid in the urine."" []"
HP:0033091,"""An abnormally increased level of tyrosine in the urine."" []"
HP:0033092,"""An increase in the level of succinate in the urine."" [PMID:32942769]"
HP:0033093,"""An elevated level of an glutamine family amino acid in the urine."" []"
HP:0033094,"""An increased concentration of glutamate in the urine."" []"
HP:0033095,"""An elevated level of a sulfur-containing amino acid in the urine."" []"
HP:0033096,"""An elevated level of an aspartate family amino acid in the urine."" []"
HP:0033097,"""An elevated urine level of a compound that is derived from an amino acid."" []"
HP:0033098,"""An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids."" []"
HP:0033099,"""An increased level of a serine family amino acid in the urine."" []"
HP:0033100,"""An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine."" []"
HP:0033101,"""An abnormally increased level of aconitic acid in the urine."" [PMID:30830355]"
HP:0033102,"""The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle."" [PMID:7977470]"
HP:0033103,"""Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation."" [PMID:18182077, PMID:7577068]"
HP:0033104,"""Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response."" [PMID:31235509]"
HP:0033105,"""An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle."" [PMID:24874532]"
HP:0033106,"""An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation."" [PMID:19008457]"
HP:0033107,"""An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine."" []"
HP:0033108,"""Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid."" []"
HP:0033109,"""Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids."" []"
HP:0033110,"""An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2."" [PMID:30561103]"
HP:0033111,"""Concentration of 3-hydroxyisovaleric acid in the urine above the normal range."" [PMID:29844061]"
HP:0033112,"""An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons."" [ORCID:0000-0002-9553-7227, PMID:12006394]"
HP:0033113,"""In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse."" [PMID:15886379]"
HP:0033114,"""A type of gallop rhytm in which both the third and the fourth sounds are present."" [PMID:15886379]"
HP:0033115,"""Abnormally increased concentration of tenascin-C in the blood circulation."" [PMID:30442110]"
HP:0033116,"""Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border."" [PMID:16679353]"
HP:0033117,"""Inflammation of the lining of the upper small intestine (duodenum)."" [PMID:16679353]"
HP:0033118,"""Anomalous physiology (function) of the right ventricle."" []"
HP:0033119,"""Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg."" [PMID:18619825]"
HP:0033120,"""A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet"" [PMID:26091664]"
HP:0033121,"""A cough with a characteristic sound that has been compared to a seal's bark."" [PMID:16936230, PMID:28613724]"
HP:0033122,"""The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present."" []"
HP:0033123,"""Abnormally increased level of osteopontin in the blood circulation"" [PMID:12574077, PMID:15705633]"
HP:0033124,"""An increased level of sorbitol in the blood circulation."" [PMID:32367058]"
HP:0033125,"""An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement."" [NCIT:C3209, PMID:29314206]"
HP:0033126,"""Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin."" [PMID:28470091]"
HP:0033127,"""An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body."" []"
HP:0033128,"""A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months."" []"
HP:0033129,"""Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm."" []"
HP:0033130,"""Anomalous echogenicity of the kidney on ultrasound examination."" [PMID:24235286]"
HP:0033131,"""Increased echogenecity of the medullary region of the kidney."" [PMID:24235286]"
HP:0033132,"""Increased echogenecity of the kidney cortex."" [PMID:24235286]"
HP:0033133,Renal cortical hypoechogeneity
HP:0033134,"""Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane)."" [PMID:28203370]"
HP:0033135,"""Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography."" [PMID:30666665]"
HP:0033136,"""An inflammed lymph node that is filled with pus."" []"
HP:0033137,"""A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli."" [LMU:mgriese]"
HP:0033138,"""A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart."" [PMID:28127133]"
HP:0033139,"""Concentration of uracil in the blood circulation is above the normal range."" []"
HP:0033140,"""The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna."" [PMID:25970099]"
HP:0033141,"""Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation."" [PMID:32706371]"
HP:0033142,"""Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose."" []"
HP:0033143,"""Inflammation of the lining of the middle section of the small intestine."" [PMID:26420973]"
HP:0033144,"""Any deviation of the concentration of ceruloplasmin in the blood from the normal range."" [PMID:32119309]"
HP:0033145,"""Elevated concentration of ceruloplasmin in the blood circulation."" [PMID:32119309]"
HP:0033146,"""Increased concentration of methylsuccinic acid in the blood circulation."" [PMID:29909962]"
HP:0033147,"""Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation."" []"
HP:0033148,"""Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration."" []"
HP:0033149,"""Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts)."" [PMID:32386558]"
HP:0033150,"""An abscess located at the junction of the anal canal and the rectum."" []"
HP:0033151,"""A structural anomaly of the pharynx."" []"
HP:0033152,"""A functional anomaly of the pharynx."" []"
HP:0033153,"""An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation."" []"
HP:0033154,"""An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation."" [PMID:12661898]"
HP:0033155,"""Abnormally increased concentration of L-alloisoleucine in the blood circulation."" [PMID:10508118, PMID:28919799]"
HP:0033156,"""Abnormally increased level of L-alloisoleucine in the urine."" [PMID:28919799]"
HP:0033157,"""Abnormal increase of the concentration of 3-methylhistidine in the blood circulation."" [PMID:6780020]"
HP:0033158,"""An abnormal reduction in the number of beats per unit time of the respiratory cilia."" [PMID:10722772]"
HP:0033159,"""Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond."" [PMID:402573]"
HP:0033160,"""Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond."" []"
HP:0033161,"""Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines."" []"
HP:0033162,"""Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines."" []"
HP:0033163,"""An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml."" [PMID:20572300]"
HP:0033164,"""Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation."" [PMID:21880133, PMID:29254324, PMID:9191008]"
HP:0033165,"""Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine."" [PMID:30020729]"
HP:0033166,"""An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis)."" [PMID:30422556]"
HP:0033167,"""A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present."" [PMID:32490121]"
HP:0033168,"""Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids."" [ORCID:0000-0003-3411-9598, PMID:27499643]"
HP:0033169,"""Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration."" [PMID:28194273]"
HP:0033170,"""Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers."" [PMID:7492193]"
HP:0033171,"""Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers."" [PMID:27669294]"
HP:0033172,"""Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased."" [PMID:27669294]"
HP:0033173,"""Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space."" [LMU:mgriese, PMID:26110014, PMID:28771412]"
HP:0033174,"""Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding."" [LMU:mgriese]"
HP:0033175,"""Concentration of L-pyroglutamic acid in the blood is above the normal range."" [PMID:8789605]"
HP:0033176,"""Increased size of the lymph nodes that are located beneath the mandible (lower jaw)."" []"
HP:0033177,"""An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane."" []"
HP:0033178,"""An increased concentration of interleukin-8 in the circulation."" [PMID:15831231]"
HP:0033179,"""An increased concentration of aconitic acid in the blood circulation."" []"
HP:0033180,"""The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention."" [ORCID:0000-0002-8169-9049, PMID:31550101]"
HP:0033181,"""Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA."" [PMID:24007734, PMID:26540492]"
HP:0033182,"""An increase in concentration of cathepsin D in the blood circulation."" [PMID:26995190]"
HP:0033183,"""A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung."" [PMID:19500772]"
HP:0033184,Triggered by infection
HP:0033185,"""Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus."" [PMID:19425169]"
HP:0033186,"""The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins."" [PMID:19500772, PMID:25052575, PMID:27071622]"
HP:0033187,"""Elevated levels of proline-containing dipeptides in urine."" [PMID:9196362]"
HP:0033188,"""A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum."" [PMID:9212761]"
HP:0033189,"""Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length."" [PMID:29574060, PMID:31468724]"
HP:0033190,"""A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth."" [PMID:18410979]"
HP:0033191,"""An increased concentration of selenium in the blood circulation."" [PMID:25519493]"
HP:0033192,"""An abnormally reduced concentration of selenium in the blood circulation."" [PMID:25519493]"
HP:0033193,"""Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62."" [PMID:31603713, PMID:31885839]"
HP:0033194,"""Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth."" []"
HP:0033195,"""Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus."" []"
HP:0033196,"""Infiltration of portal fields by inflammatory cells."" [PMID:16939061, PMID:19142989]"
HP:0033197,"""Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes)."" [PMID:31583739]"
HP:0033198,"""Applies to a sign or symptom that is provoked or brought about by infection by a virus."" []"
HP:0033199,"""An elevation of the concentration of interleukin 10 in the blood circulation."" [PMID:18424693]"
HP:0033200,"""Reduced intensity of the triceps tendon reflex."" []"
HP:0033201,"""Reduced intensity of the biceps tendon reflex."" []"
HP:0033202,"""Reduced intensity of the brachioradialis tendon reflex."" [PMID:32119424]"
HP:0033203,"""Increased intensity of the brachioradialis reflex."" [PMID:32119424]"
HP:0033204,"""Increased intensity of the triceps reflex."" [PMID:30285397]"
HP:0033205,"""Increased intensity of the biceps reflex."" [PMID:30285397]"
HP:0033206,"""Increased intensity of the Achilles reflex."" [PMID:30285397]"
HP:0033207,"""Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures."" [PMID:26119182]"
HP:0033208,"""A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis."" [PMID:21471096]"
HP:0033209,"""Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli."" [PMID:31151956, PMID:31189067]"
HP:0033210,"""Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries."" [PMID:31189067]"
HP:0033211,"""A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity."" [PMID:3542299]"
HP:0033212,"""Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added."" [PMID:3542299]"
HP:0033213,"""An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane."" [PMID:6466694]"
HP:0033214,"""Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias."" [PMID:27427983]"
HP:0033215,Obliterative abnormality of the renal glomerulus
HP:0033216,"""Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular."" [KPMP:arosenberg]"
HP:0033217,"""Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum."" [KPMP:arosenberg]"
HP:0033218,"""Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole."" [KPMP:arosenberg]"
HP:0033219,"""Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section."" [KPMP:arosenberg]"
HP:0033220,"""An increased concentration of 2-ethylhydracylic acid in the urine."" [PMID:15615815]"
HP:0033221,"""An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells."" []"
HP:0033222,"""An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells."" [PMID:29095912]"
HP:0033223,"""Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole."" [KPMP:arosenberg, PMID:28361304]"
HP:0033224,"""Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering."" [KPMP:arosenberg]"
HP:0033225,"""An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present"" [KPMP:arosenberg]"
HP:0033226,"""An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material."" [KPMP:arosenberg, PMID:32866505]"
HP:0033227,"""An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis."" [KPMP:arosenberg, PMID:32866505]"
HP:0033228,"""Inability to elicit triceps tendon reflex."" []"
HP:0033229,"""Inability to elicit brachioradialis tendon reflex."" []"
HP:0033230,"""Inability to elicit biceps tendon reflex."" []"
HP:0033231,"""Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney."" [KPMP:arosenberg]"
HP:0033232,"""Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix."" [KPMP:arosenberg, PMID:19470685]"
HP:0033233,"""Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane."" [KPMP:arosenberg, PMID:32866505]"
HP:0033234,"""Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material."" []"
HP:0033235,"""Reduced ability to desscend stairs."" []"
HP:0033236,"""A failure to sustain attention that requires self-motivation to optimize performance."" [PMID:21128132]"
HP:0033237,"""Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'."" [KPMP:arosenberg, PMID:32866505]"
HP:0033238,"""Cytoplasmic projections into the urinary space from the luminal side of the podocyte."" [KPMP:arosenberg, PMID:32866505]"
HP:0033239,"""Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus."" []"
HP:0033240,"""An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation."" [LMU:kknofloch, PMID:12934788]"
HP:0033241,"""An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold."" [PMID:7463297]"
HP:0033242,"""A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac."" [LMU:kknoflach, PMID:29970781, PMID:3484566]"
HP:0033243,"""Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components."" [LMU:crapp]"
HP:0033244,"""Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells."" [PMID:29957271]"
HP:0033245,"""Any structural abnormality of alveolar type 2 (ATII) cells."" [LMU:kknofloch, PMID:10445627, PMID:27792742]"
HP:0033246,"""Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin."" [LMU:crapp, PMID:17554398, PMID:2166657]"
HP:0033247,"""Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding."" []"
HP:0033248,"""Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin."" [LMU:crapp, PMID:31538016]"
HP:0033249,"""Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging."" []"
HP:0033250,"""An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels."" [HPO:probinson, PMID:25029335]"
HP:0033251,"""Increase in the amount of air remaining in a person's lungs after full exhalation."" [PMID:12934788]"
HP:0033252,"""Exaggerated skin markings (dermatoglyphics) on the palms of the hand."" [PMID:23301728]"
HP:0033253,"""A reduction in the concentration of interferon gamma measured in the blood circulation."" []"
HP:0033254,"""Narrowing of the anorectum associated with inflammation or scar tissue."" [PMID:25109493]"
HP:0033255,"""A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes."" [LMU:mgriese, PMID:31118601]"
HP:0033256,"""Inflammation of the entire colon."" [PMID:16189424]"
HP:0033257,"""A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage."" []"
HP:0033258,"""Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death."" [ORCID:0000-0002-1735-8178, ORCID:0000-0002-9588-2944, PMID:22191982]"
HP:0033259,"""A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown."" [PMID:2827606, PMID:28276060]"
HP:0033260,"""Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming."" [PMID:26500860, PMID:31753828]"
HP:0033261,"""Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment."" [PMID:25537277]"
HP:0033262,"""A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis."" [PMID:26808044]"
HP:0033263,"""Lack of platelet dense granules, a type of platelet organelles."" [PMID:11809908]"
HP:0033264,"""Increased size of platelet dense granules."" [PMID:16551969]"
HP:0033265,"""Lamellated intracytoplasmic lipid inclusions within podocytes."" [KPMP:arosenberg, PMID:32866505]"
HP:0033266,"""Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact."" [KPMP:arosenberg, PMID:32866505]"
HP:0033267,"""Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus."" [PMID:24875196]"
HP:0033268,"""Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane."" [KPMP:arosenberg, PMID:27102348]"
HP:0033269,"""Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs)."" [KPMP:arosenberg, PMID:32866505]"
HP:0033270,"""Global distention of glomerular capillaries with intraluminal intact red blood cells."" [KPMP:arosenberg, PMID:32866505]"
HP:0033271,"""Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis."" [KPMP:arosenberg, PMID:32866505]"
HP:0033272,"""An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier."" [KPMP:arosenberg, PMID:29629372]"
HP:0033273,"""Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm."" [KPMP:arosenberg, PMID:19129259]"
HP:0033274,"""Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen."" [KPMP:arosenberg, PMID:14511965]"
HP:0033275,"""Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon."" [KPMP:arosenberg, PMID:23957425]"
HP:0033277,"""Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis."" [KPMP:arosenberg, PMID:29459092]"
HP:0033278,"""Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells."" [PMID:21625644]"
HP:0033279,"""An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin."" [PMID:27247538]"
HP:0033280,"""Enlargement of lymph nodes surrounding the trachea."" [PMID:4023240]"
HP:0033281,"""The presence of nucleated red blood cells in the peripheral blood circulation."" [PMID:28633658]"
HP:0033282,"""Any abnormal sttructure of the glomerular basement membrane."" [PMID:29435440]"
HP:0033283,"""Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals."" [KPMP:arosenberg]"
HP:0033284,"""Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals."" [KPMP:arosenberg]"
HP:0033285,"""Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy."" []"
HP:0033286,Thickened glomerular basement membranes with electron dense deposits
HP:0033287,"""Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits."" [KPMP:arosenberg, PMID:32866505]"
HP:0033288,Glomerular basement membrane spikes
HP:0033289,"""Irregular folding of the glomerular basement membrane with an intact lamina densa."" []"
HP:0033290,"""Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material."" [KPMP:arosenberg, PMID:21827618, PMID:32866505]"
HP:0033291,"""Apoptotic, pyknotic, and fragmented nuclei within the glomerulus."" [KPMP:arosenberg, PMID:32866505]"
HP:0033292,"""An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen."" [KPMP:arosenberg]"
HP:0033293,"""Intracapillary amorphous, eosinophilic material consisting of immune deposits."" [KPMP:arosenberg, PMID:32866505]"
HP:0033294,"""Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections."" [KPMP:arosenberg]"
HP:0033295,"""Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit."" [KPMP:arosenberg]"
HP:0033296,"""Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy."" [KPMP:arosenberg]"
HP:0033297,"""Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy."" [KPMP:arosenberg]"
HP:0033298,"""A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)"" [PMID:27814381]"
HP:0033299,"""Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation."" []"
HP:0033300,"""Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation."" []"
HP:0033301,"""An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine."" []"
HP:0033302,"""An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation."" []"
HP:0033303,"""Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group."" []"
HP:0033305,"""Any deviation from the normal concentration of fetuin A in the blood circulation."" [PMID:25468829]"
HP:0033306,"""A reduction below normal of fetuin A in the blood circulation."" []"
HP:0033307,"""An elevation above normal of fetuin A in the blood circulation."" []"
HP:0033308,"""Excessive growth of the kneecap (patella)."" []"
HP:0033309,"""A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum."" [PMID:17872641]"
HP:0033310,"""Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption."" [PMID:22677080]"
HP:0033311,"""A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers."" [PMID:15902826]"
HP:0033312,"""Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron."" [PMID:32119361]"
HP:0033313,"""Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft."" [KPMP:arosenberg, PMID:32866505]"
HP:0033314,"""Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium."" [KPMP:arosenberg, PMID:32866505]"
HP:0033315,"""Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells."" [KPMP:arosenberg]"
HP:0033316,"""Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin."" [KPMP:arosenberg, PMID:32132388]"
HP:0033317,"""A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix."" [PMID:32866505]"
HP:0033318,"""A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix."" [KPMP:arosenberg, PMID:32866505]"
HP:0033319,"""A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference."" [KPMP:arosenberg, PMID:32866505]"
HP:0033320,"""Loss of mesangial cells segmentally or globally."" []"
HP:0033321,"""Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium."" [KPMP:arosenberg]"
HP:0033322,"""Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM."" [KPMP:arosenberg]"
HP:0033323,"""Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM."" [KPMP:arosenberg]"
HP:0033324,"""Increased concentration of homovanillic acid in the blood circulation."" []"
HP:0033325,"""Increased concentration of sebacic acid in the blood circulation."" []"
HP:0033326,"""An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation."" []"
HP:0033327,"""Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed."" [PMID:24770509, PMID:27041288]"
HP:0033328,"""Increase in the number of type II pneumocytes."" [LMU:crapp, PMID:11079017]"
HP:0033329,"""Anomaly of the physiological response to maintain the body's posture when movement and position is altered."" [PMID:15246484]"
HP:0033330,"""Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years."" [PMID:13502822]"
HP:0033331,"""Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing."" [PMID:20034426, PMID:30137854]"
HP:0033332,"""An increased concentration of serum amyloid A in the blood circulation."" [PMID:30165816]"
HP:0033333,"""Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement."" [PMID:12453260]"
HP:0033334,"""An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm."" [PMID:32680920]"
HP:0033335,"""An anomaly in the development of the embryo in a stage prior to implantation."" []"
HP:0033336,"""Failure of a fertilized oocyte to undergo the first round of cell division."" [PMID:32502391]"
HP:0033337,"""An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II."" []"
HP:0033338,"""Anomalous oocyte meiosis"" []"
HP:0033339,"""An increased concentration of inosine in the blood circulation."" []"
HP:0033340,"""Increased concentration of guanosine in the blood circulation."" []"
HP:0033341,"""An increased concentration of beta-sitosterol in the blood circulation."" []"
HP:0033342,"""The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4."" [ORCID:0000-0002-3387-1836, PMID:24260168, PMID:24415568, PMID:25889963, PMID:31312230]"
HP:0033343,"""Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes."" [PMID:31869107]"
HP:0033344,"""A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura."" [LMU:mgriese, PMID:27618319]"
HP:0033345,"""Pain (An unpleasant sensory and emotional experience) along the course of a nerve."" []"
HP:0033346,"""Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events."" []"
HP:0033347,"""A purely subjective manifestation of an epileptic seizure pertaining to altered cognition."" []"
HP:0033348,"""An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure."" []"
HP:0033349,"""A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient."" [PMID:29871784, PMID:32305858]"
HP:0033350,"""An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject."" [ORCID:0000-0001-5361-6739, PMID:19671143]"
HP:0033351,"""Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain."" [PMID:30725953]"
HP:0033352,"""Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output."" [PMID:27295157]"
HP:0033353,"""Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein)."" []"
HP:0033354,"""Any deviation from the normal amount of a metabolite in urine."" []"
HP:0033355,"""An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover."" [PMID:12661898, PMID:9127470]"
HP:0033356,"""An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine."" []"
HP:0033357,"""Reduced range of motion turning the head side to side."" []"
HP:0033358,"""A deviation from the normal range of concentration of particles in urine."" []"
HP:0033359,"""An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine."" []"
HP:0033360,"""A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible."" [PMID:23356593]"
HP:0033361,"""An open sore of the nasal mucosa."" [PMID:11314863, PMID:25441476, PMID:26657735]"
HP:0033362,"""Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing."" []"
HP:0033363,"""Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant\nplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult."" [LMU:mgriese, PMID:24224590]"
HP:0033364,"""A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid."" [LMU:crapp, PMID:20028911]"
HP:0033365,"""A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace."" [LMU:kknoflach, PMID:20028911]"
HP:0033366,"""A type of lipoid pneumonia in which the source of the lipids is external to the body."" [LMU:mgriese, PMID:20028911]"
HP:0033367,"""Low level of blood oxygen induced by changing from a recumbent to an upright position."" [LMU:mgriese, PMID:27669319]"
HP:0033368,"""A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position."" [LMU:mgriese, PMID:27669319]"
HP:0033369,"""A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity."" [HPO:probinson, PMID:32522799]"
HP:0033370,"""Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system."" [LMU:crapp, PMID:31466963, PMID:3359830]"
HP:0033371,"""Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen."" [LMU:crapp, PMID:26744680]"
HP:0033372,"""Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O."" [ORCID:0000-0002-4095-8489, PMID:11334115]"
HP:0033373,"""Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index)."" [ORCID:0000-0002-4095-8489, PMID:11334115]"
HP:0033374,"""Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index)."" [ORCID:0000-0002-4095-8489, PMID:11334115]"
HP:0033375,"""Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers."" [LMU:mgriese, PMID:29892540]"
HP:0033376,"""Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology."" [LMU:crapp]"
HP:0033377,"""Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs)."" [LMU:mgriese, PMID:20884725, PMID:26474448, PMID:30521210, PMID:32558323, PMID:33306420]"
HP:0033378,"""Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts."" [LMU:mgriese, PMID:10623675]"
HP:0033379,"""The presence of a left and a right superior vena cava."" [PMID:18847480]"
HP:0033380,"""Inflammation of the cartilage of the nose."" [PMID:33108101]"
HP:0033381,"""Abnormally increased concentration of O-stearoylcarnitine in the blood circulation."" []"
HP:0033382,"""Abnormally increased concentration of palmitoylcarnitine in the blood circulation."" []"
HP:0033383,"""Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve."" [PMID:15961865]"
HP:0033384,"""Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease."" []"
HP:0033385,"""An increased amount of pyridinoline in the urine."" [PMID:26306627]"
HP:0033386,"""Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease."" []"
HP:0033387,"""An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation."" [PMID:26306627]"
HP:0033388,"""Any structural abnormality of a bronchial artery."" [ORCID:0000-0002-4095-8489, PMID:25590386]"
HP:0033389,"""Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries."" [ORCID:0000-0002-4095-8489, PMID:10598843]"
HP:0033390,"""Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm."" [ORCID:0000-0002-4095-8489, PMID:25590386, PMID:32430593]"
HP:0033391,"""Increase in the volume of bronchial artery wall due to the enlargement of its component cells."" [ORCID:0000-0002-4095-8489, PMID:25590386]"
HP:0033392,"""Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer)."" []"
HP:0033393,"""Irregular or changing caliber (diameter) along the tail of the sperm."" [PMID:26472152]"
HP:0033394,"""The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II."" [ORCID:0000-0002-3387-1836, PMID:16932997]"
HP:0033395,"""The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin."" [ORCID:0000-0002-3387-1836, PMID:16932997]"
HP:0033396,"""Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina."" [KPMP:arosenberg]"
HP:0033397,"""The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space."" [KPMP:arosenberg]"
HP:0033398,"""Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs)."" [ORCID:0000-0002-4095-8489, PMID:929215]"
HP:0033399,"""Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks."" [PMID:14677667]"
HP:0033400,"""A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction."" [PMID:29083722]"
HP:0033401,"""Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion."" [PMID:10720362, PMID:26858079]"
HP:0033402,"""Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis."" []"
HP:0033403,"""Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis."" [PMID:33102026]"
HP:0033404,"""Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain."" [PMID:30306080]"
HP:0033405,"""Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups."" []"
HP:0033406,"""An increased concentration of o-phosphoethanolamine in the blood circulation."" []"
HP:0033407,"""Elevated amount of acetoacetic acid in the urine."" [PMID:11344564]"
HP:0033408,"""An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies."" []"
HP:0033409,"""An increased amount of 2-hydroxybutyric acid in the urine."" []"
HP:0033410,"""An increased blood concentration of cartilage oligomeric matrix protein (COMP)."" [PMID:25317315]"
HP:0033411,"""Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities."" []"
HP:0033412,"""Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities."" []"
HP:0033413,"""Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency."" []"
HP:0033414,"""Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency."" []"
HP:0033415,"""The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling."" [ORCID:0000-0002-4095-8489, PMID:12917306, PMID:28613742]"
HP:0033416,"""Reduced ability to bring the leg toward the midline of the body."" [PMID:28914719]"
HP:0033417,"""An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent."" []"
HP:0033418,"""Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range."" [PMID:27208342]"
HP:0033419,"""Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range."" []"
HP:0033420,"""Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels."" [ORCID:0000-0002-4095-8489, PMID:8504682]"
HP:0033421,"""Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%."" [ORCID:0000-0002-4095-8489, PMID:23606929, PMID:28025704]"
HP:0033422,"""Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree."" [ORCID:0000-0002-4095-8489, PMID:17008597, PMID:23737168]"
HP:0033423,"""A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm."" [PMID:15939821]"
HP:0033424,"""A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm)."" [PMID:15939821]"
HP:0033425,"""Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail."" []"
HP:0033426,"""Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation."" [ORCID:0000-0002-4095-8489, PMID:9172037]"
HP:0033427,"""Focal accumulation of dilated pulmonary capillaries."" [ORCID:0000-0002-4095-8489]"
HP:0033428,"""Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body."" []"
HP:0033429,"""Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain."" []"
HP:0033430,"""Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines."" []"
HP:0033431,"""A form of cytomegalovirus infection characterized by infection and inflammation of the colon."" [PMID:31194388]"
HP:0033432,Opportunistic viral infection
HP:0033433,"""An erosion of the mucous membrane in the region connecting the ileum and cecum."" [PMID:28744345]"
HP:0033434,"""A full-thickness defect of the nasal septum."" [PMID:30725893]"
HP:0033435,"""A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group."" []"
HP:0033436,"""An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation."" []"
HP:0033437,"""Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation."" []"
HP:0033438,"""An increased blood concentration of myoglobin."" [PMID:29262167]"
HP:0033439,"""Increased concentration of decenoylcarnitine in the blood circulation."" []"
HP:0033440,"""Increased concentration of octenoylcarnitine in the blood circulation."" []"
HP:0033441,"""Increased concentration of hexanoylcarnitine in the blood circulation."" []"
HP:0033442,"""Increased concentration of glutarylcarnitine in the blood circulation."" [PMID:15617193]"
HP:0033443,"""Increased concentration of propionylcarnitine in the blood circulation."" []"
HP:0033444,"""Increased concentration of dodecanoylcarnitine in the blood circulation."" []"
HP:0033445,"""An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine."" []"
HP:0033446,"""Increased concentration of O-butyrylcarnitine in the blood circulation."" []"
HP:0033447,"""Increased concentration of O-isovalerylcarnitine in the blood circulation."" []"
HP:0033448,"""Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children."" [PMID:27806975, PMID:27831914]"
HP:0033449,"""Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children."" [PMID:27806975, PMID:27831914]"
HP:0033450,"""Any deviation from normal concentration of albumin in the blood circulation."" [PMID:11989633]"
HP:0033451,"""An elevation above the normal concentration of prealbumin in the blood circulation."" []"
HP:0033452,"""A reduction from the normal concentration of prealbumin in the blood circulation."" [PMID:11989633]"
HP:0033453,"""Reduced abilty to move the head back towards the ceiling so that one is looking upwards."" []"
HP:0033454,"""Feeding problem necessitating food and nutrient delivery via a tube."" [PMID:25874832, PMID:28044031]"
HP:0033456,"""Increased amount of a keta acid in the urine."" []"
HP:0033457,"""Increased amount of 3-methyl-2-oxovaleric acid in the urine."" []"
HP:0033458,"""Increased amount of 4-methyl-2-oxopentanoic acid in the urine."" []"
HP:0033459,"""Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein)."" []"
HP:0033460,"""Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein)."" []"
HP:0033461,"""Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation."" []"
HP:0033462,"""Increased concentration of oleylcarnitine in the blood circulation."" []"
HP:0033464,"""Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation."" []"
HP:0033465,"""Elevated circulating tetradecanoyl concentration."" []"
HP:0033466,"""Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand."" [PMID:26055647]"
HP:0033467,"""A normal APGAR score can be coded as 'not Low 10-minute APGAR score'."" []"
HP:0033468,10-minute APGAR score of 0
HP:0033469,10-minute APGAR score of 1
HP:0033470,10-minute APGAR score of 2
HP:0033471,10-minute APGAR score of 3
HP:0033472,10-minute APGAR score of 4
HP:0033473,10-minute APGAR score of 5
HP:0033474,10-minute APGAR score of 6
HP:0033475,"""Decreased ability to move the arm away from the midline of the body."" [PMID:32296967]"
HP:0033476,"""The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution."" [PMID:11899137, PMID:16338206]"
HP:0033477,"""A deviation from the normal concentration of lipoprotein lipase in the blood circulation."" [PMID:30725725]"
HP:0033478,"""Increased concentration of lipoprotein lipase in the blood circulation."" [PMID:30725725]"
HP:0033479,Abnormal circulating bilirubin concentration
HP:0033480,"""Decreased circulation of bilirubin in the blood circulation."" []"
HP:0033481,"""Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder."" []"
HP:0033482,"""A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head."" []"
HP:0033483,"""Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM."" [KPMP:arosenberg, PMID:32393263, PMID:33276871]"
HP:0033484,"""Increased concentration of linoleylcarnitine in the blood circulation."" []"
HP:0033485,"""A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver."" [KPMP:arosenberg, PMID:32866505]"
HP:0033486,"""Anomalous appearance or structure of the surface of the glomerular basement membrane."" [KPMP:arosenberg]"
HP:0033487,"""Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane."" [KPMP:arosenberg, PMID:32866505]"
HP:0033488,"""Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries."" [KPMP:arosenberg]"
HP:0033489,"""Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries."" [KPMP:arosenberg]"
HP:0033490,"""Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space."" [KPMP:arosenberg]"
HP:0033491,"""A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity)."" [KPMP:arosenberg]"
HP:0033492,"""Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte."" [KPMP:arosenberg, PMID:27102348]"
HP:0033493,"""Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas."" [PMID:32866505]"
HP:0033494,"""Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains."" [PMID:25852856, PMID:32866505]"
HP:0033495,"""Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule."" [KPMP:arosenberg]"
HP:0033496,"""Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule."" [PMID:27437509]"
HP:0033497,"""Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed."" [KPMP:arosenberg, PMID:27437509]"
HP:0033498,"""Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed."" [KPMP:arosenberg]"
HP:0033499,"""Electron-dense deposits in the lamina densa with a ribbon or a sausage structure."" [PMID:33329990]"
HP:0033500,"""Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect."" []"
HP:0033501,"""Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM."" []"
HP:0033502,"""Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine."" []"
HP:0033503,"""An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid."" [PMID:31290619]"
HP:0033504,"""An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation."" [PMID:31290619]"
HP:0033505,"""Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension."" []"
HP:0033506,"""An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine."" []"
HP:0033507,"""A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine."" []"
HP:0033508,"""Inflammation of the meninges related to infection by Epstein-Barr virus."" [PMID:22018204]"
HP:0033509,"""Inflamation of the brain related to infection by Epstein-Barr virus."" [PMID:22018204]"
HP:0033510,"""A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin."" [ORCID:0000-0002-4095-8489, PMID:33085427]"
HP:0033511,"""Chronic compulsive drug seeking and continued use despite harmful consequences."" []"
HP:0033512,"""Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing."" [ORCID:0000-0002-4095-8489, PMID:28790493]"
HP:0033513,"""Addiction to cocaine."" [ORCID:0000-0002-4095-8489, PMID:28790493]"
HP:0033514,"""Addiction to amphetamine or dextroamphetamine."" [ORCID:0000-0002-4095-8489, PMID:28790493]"
HP:0033515,"""Addiction to opioids."" [ORCID:0000-0002-4095-8489, PMID:27508068]"
HP:0033516,"""Addiction to a benzodiazepine."" [ORCID:0000-0002-4095-8489, PMID:28790493]"
HP:0033517,"""Addiction to heroin."" [ORCID:0000-0002-4095-8489, PMID:28790493]"
HP:0033518,"""Addiction to methylphenidate."" [ORCID:0000-0002-4095-8489, PMID:28790493]"
HP:0033519,"""Addiction to methamphetamine."" [ORCID:0000-0002-4095-8489, PMID:28790493]"
HP:0033520,"""Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.\nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke."" [KMU:kknoflach, PMID:11700487, PMID:12130431]"
HP:0033521,"""A lack of humidification of the nasal mucosa."" [LMU:mgriese, PMID:12391797, PMID:20465792]"
HP:0033522,"""A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries."" [PMID:30909834]"
HP:0033523,"""A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece."" [PMID:29024992]"
HP:0033524,"""Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC."" [PMID:31781811]"
HP:0033525,"""Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern."" [PMID:31278745]"
HP:0033526,"""Reduced ability to move the foot up toward the shin."" [PMID:22506166, PMID:26589087, PMID:27465627]"
HP:0033527,"""A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin)."" [PMID:10599740, PMID:11155091]"
HP:0033528,"""A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs."" [PMID:18771592, PMID:29262215]"
HP:0033529,"""Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area."" [ORCID:0000-0002-4095-8489, PMID:30969727]"
HP:0033530,"""An elevated cardiac index, defined as cardiac output divided by body surface area."" [ORCID:0000-0002-4095-8489, PMID:30969727]"
HP:0033531,"""A reduced cardiac index, defined as cardiac output divided by body surface area."" [ORCID:0000-0002-4095-8489, PMID:30969727]"
HP:0033532,"""A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat."" [ORCID:0000-0002-4095-8489, PMID:18771592]"
HP:0033533,"""An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat."" [ORCID:0000-0002-4095-8489, PMID:18771592]"
HP:0033534,"""An increased concentration of brain natriuretic peptide in the blood circulation."" [ORCID:0000-0002-4095-8489, PMID:16698841]"
HP:0033535,"""Decreased number of platelet dense granules, a type of platelet organelle."" [PMID:31217188]"
HP:0033536,"""A reduced number of platelet alpha granules."" [PMID:31217188]"
HP:0033537,"""Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging."" [ORCID:0000-0002-4095-8489, PMID:26274445]"
HP:0033538,"""Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract."" [ORCID:0000-0002-4095-8489, PMID:16461818, PMID:22699285, PMID:31157994]"
HP:0033539,"""A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray."" [ORCID:0000-0002-4095-8489, PMID:16376803]"
HP:0033540,"""Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL."" [ORCID:0000-0002-4095-8489, PMID:16264058]"
HP:0033541,"""Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL."" [ORCID:0000-0002-4095-8489, PMID:16264058]"
HP:0033542,"""Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density."" [ORCID:0000-0002-4095-8489, PMID:10555672, PMID:928676]"
HP:0033543,"""Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences."" []"
HP:0033544,"""Extracellular mesangial accumulation of slender proteinaceous fibers."" []"
HP:0033545,"""Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material."" [KPMP:arosenberg, PMID:32866505]"
HP:0033546,"""Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins."" [KPMP:arosenberg, PMID:32866505]"
HP:0033547,"""Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination."" [KPMP:arosenberg, PMID:2500773]"
HP:0033548,"""Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass."" [KPMP:arosenberg, PMID:32866505]"
HP:0033549,"""Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei."" [KPMP:arosenberg]"
HP:0033550,"""A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese."" [LMU:kknoflach, PMID:26040776]"
HP:0033551,"""A granuloma located in the lung that is not associated with necrotic changes."" [LMU:mgriese]"
HP:0033552,"""Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis."" []"
HP:0033553,"""Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system."" [ORCID:0000-0002-4095-8489, PMID:31751017]"
HP:0033554,"""The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen."" [ORCID:0000-0002-4095-8489, PMID:30938432]"
HP:0033555,"""The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens."" [ORCID:0000-0002-4095-8489, PMID:1522616, PMID:15804706]"
HP:0033556,"""The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62."" []"
HP:0033557,"""The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils"" [ORCID:0000-0002-4095-8489, PMID:9463400]"
HP:0033558,"""The presence of autoantibodies in the blood circulation that react against histone antigens."" [ORCID:0000-0002-4095-8489, PMID:15096389]"
HP:0033559,"""The presence of autoantibodies in the blood circulation that react against myeloperoxidase."" [ORCID:0000-0002-4095-8489, PMID:30767872]"
HP:0033560,"""Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40."" [ORCID:0000-0002-4095-8489, PMID:17643929]"
HP:0033561,"""The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. \nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies."" [ORCID:0000-0002-4095-8489, PMID:31508255]"
HP:0033562,"""The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210."" [ORCID:0000-0002-4095-8489, PMID:23814122]"
HP:0033563,"""The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase."" [ORCID:0000-0002-4095-8489, PMID:33259121]"
HP:0033564,"""Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus."" [ORCID:0000-0002-4095-8489, PMID:28063094]"
HP:0033565,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase."" [PMID:18503599]"
HP:0033566,"""Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization."" [PMID:29262101]"
HP:0033567,"""A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used."" [PMID:29262101]"
HP:0033568,"""A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees."" [PMID:29262101]"
HP:0033569,"""A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right."" [PMID:29262101]"
HP:0033570,"""A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection."" [PMID:29262101]"
HP:0033571,"""The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy."" [ORCID:0000-0002-4095-8489, PMID:16267251]"
HP:0033572,"""The presence of autoantibodies in the blood circulation that react against histone H1."" [ORCID:0000-0002-4095-8489]"
HP:0033573,"""The presence of autoantibodies in the blood circulation that react against histone H4."" [ORCID:0000-0002-4095-8489]"
HP:0033574,"""The presence of autoantibodies in the blood circulation that react against histone H3."" [ORCID:0000-0002-4095-8489]"
HP:0033575,"""The presence of autoantibodies in the blood circulation that react against histone H2A."" [ORCID:0000-0002-4095-8489]"
HP:0033576,"""The presence of autoantibodies in the blood circulation that react against histone H2B."" [ORCID:0000-0002-4095-8489]"
HP:0033577,"""Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease."" [ORCID:0000-0002-4095-8489, PMID:15194174, PMID:15194175, PMID:16899857, PMID:6148159]"
HP:0033578,"""Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg)."" [ORCID:0000-0002-4095-8489, PMID:30545968]"
HP:0033579,"""Insufficient growth hormone secretion following administration of growth hormone-releasing hormone."" [PMID:21651393]"
HP:0033580,"""An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV)."" [PMID:15961865, PMID:26744834]"
HP:0033581,"""The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases."" []"
HP:0033582,"""Abnormal accumulation of lymphocytes in the interstitium of the lung."" []"
HP:0033583,"""Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways."" [LMU:mgriese, PMID:32040879, PMID:32047693]"
HP:0033584,"""Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa."" [LMU:mgriese, PMID:30085516]"
HP:0033585,"""A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation."" [LMU:mgriese, PMID:30085516rdfs\:comment]"
HP:0033586,"""A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia."" [LMU:mgriese]"
HP:0033587,"""A circumscribed area of pus or necrotic debris in the vulvar region."" [PMID:27617247]"
HP:0033588,"""Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline."" [PMID:17364294, PMID:29262197]"
HP:0033589,"""Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating."" [PMID:27275398]"
HP:0033590,"""A circumscribed area of pus or necrotic debris in the groin (inguinal region)."" [PMID:23537455]"
HP:0033591,"""Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system."" [PMID:29658394]"
HP:0033592,"""The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer."" [ORCID:0000-0002-4095-8489, PMID:1864977, PMID:3874029, PMID:7986226]"
HP:0033593,"""The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer."" [ORCID:0000-0002-4095-8489, PMID:7986226]"
HP:0033594,"""An abnormally increased amount of 7-biopterin in the urine."" [PMID:9585615]"
HP:0033595,"""Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease."" [PMID:17073606]"
HP:0033596,"""An abnormally increased amount of 3-methylcrotonylglycine in the urine."" []"
HP:0033597,"""Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi."" [PMID:16329100]"
HP:0033598,"""Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate)."" [KPMP:arosenberg]"
HP:0033599,"""A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate)."" [KPMP:arosenberg, PMID:25852856]"
HP:0033600,"""A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate)."" [KPMP:arosenberg, PMID:32866505]"
HP:0033601,"""A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate)."" [KPMP:arosenberg, PMID:32866505]"
HP:0033602,"""A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate)."" [KPMP:arosenberg]"
HP:0033603,"""Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate)."" [PMID:30085237]"
HP:0033604,"""Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop."" [PMID:32866505]"
HP:0033605,"""A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils."" [PMID:25805031]"
HP:0033606,"""Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow."" []"
HP:0033607,"""A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow."" [PMID:26456767]"
HP:0033608,"""Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging."" [ORCID:0000-0002-4095-8489, PMID:26977460]"
HP:0033609,"""A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a \""solid\"" appearance."" [PMID:29143191]"
HP:0033610,"""Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention."" [PMID:24100062]"
HP:0033611,"""Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized."" [ORCID:0000-0002-4095-8489, PMID:24100062]"
HP:0033612,"""Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed."" [ORCID:0000-0002-4095-8489, PMID:24100062]"
HP:0033613,"""Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes."" [ORCID:0000-0002-4095-8489, PMID:20177105]"
HP:0033614,"""Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced."" [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]"
HP:0033615,"""Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus."" [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]"
HP:0033616,"""Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended."" [ORCID:0000-0002-4095-8489, PMID:11158647]"
HP:0033617,"""Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus."" [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]"
HP:0033618,"""Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus."" [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]"
HP:0033619,"""A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical)."" [ORCID:0000-0002-4095-8489]"
HP:0033620,"""A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical)."" [ORCID:0000-0002-4095-8489]"
HP:0033621,"""Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum."" [ORCID:0000-0002-4095-8489, PMID:18544671, PMID:27867581]"
HP:0033622,"""A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin."" [PMID:31736939]"
HP:0033623,"""Information about the delivery and health status at birth typically elicited as a part of the past medical history."" []"
HP:0033624,"""A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits."" [PMID:29503048]"
HP:0033625,"""A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening."" [PMID:7809306]"
HP:0033626,"""Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol)."" [PMID:1596847, RGD:gthayman]"
HP:0033627,"""Increased amount of harderoporphyrin in the urine."" [PMID:31085196]"
HP:0033628,"""Intermittent abdominal pain with diarrhea and/or constipation."" [OMIM:ahamosh]"
HP:0033629,"""The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues."" [PMID:29483905]"
HP:0033630,"""Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is \""cloudy\"". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously."" [PMID:23999934, PMID:30452327, PMID:32857796, PMID:32984564, PMID:33199820]"
HP:0033631,"""Inflammation of the vertebrae (vertebral bodies) or spine."" [PMID:22859929]"
HP:0033632,"""Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas."" [ORCID:0000-0002-4095-8489, PMID:25706496, PMID:28049168]"
HP:0033633,"""An abnormal reduction in alveolar volume."" []"
HP:0033634,"""An abnormal elevation in alveolar volume."" []"
HP:0033635,"""Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units)."" [ORCID:0000-0002-4095-8489, PMID:30545968]"
HP:0033636,"""Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units)."" [ORCID:0000-0002-4095-8489, PMID:30545968]"
HP:0033637,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2)."" [ORCID:0000-0002-4095-8489, PMID:9518950]"
HP:0033638,"""Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern."" [ORCID:0000-0002-4095-8489, PMID:18195376, PMID:27852954]"
HP:0033639,"""Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations."" [ORCID:0000-0002-4095-8489, PMID:12244005]"
HP:0033640,"""Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint."" [PMID:8793927]"
HP:0033641,"""Deposition of calcium salts in the leaflets (cusps) of the aortic valve."" [ORCID:0000-0002-4095-8489, PMID:22896576]"
HP:0033642,"""Deposition of calcium salts in the leaflets (cusps) of the mitral valve."" []"
HP:0033643,"""Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons."" [PMID:9345094]"
HP:0033644,"""Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production."" [PMID:30725682]"
HP:0033645,"""A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons."" [PMID:19933510, PMID:32779696]"
HP:0033646,"""Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum."" [PMID:28250456]"
HP:0033647,"""The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette."" [PMID:18195376]"
HP:0033648,"""A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia."" [PMID:18195376]"
HP:0033649,"""Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae."" [PMID:18195376]"
HP:0033650,"""A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura\n(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos."" [PMID:18195376]"
HP:0033651,"""A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma."" [PMID:18195376]"
HP:0033652,"""A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis"" [PMID:18195376]"
HP:0033653,"""A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion."" [PMID:18195376]"
HP:0033654,"""Irregular and nodular thickening of interlobular septa reminiscent of a row of beads."" [PMID:18195376]"
HP:0033655,"""A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick."" [PMID:18195376, PMID:29518379]"
HP:0033656,"""A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament."" [PMID:18195376]"
HP:0033657,"""Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm."" [PMID:18195376]"
HP:0033658,"""Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung."" [PMID:18195376]"
HP:0033660,"""Tingling (often refered to as a pins and needles feeling) and numbness in the hand."" []"
HP:0033661,"""An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer."" [PMID:18195376]"
HP:0033662,"""An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma)."" [PMID:18195376]"
HP:0033663,"""Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse."" [PMID:18195376]"
HP:0033664,"""Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells."" [ORCID:0000-0002-1735-8178, PMID:25408925]"
HP:0033665,"""A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles."" [PMID:18638419, PMID:19282701]"
HP:0033666,"""A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning."" []"
HP:0033667,"""A reduction in the subjective feeling of mental well being."" [PMID:22654934, PMID:26043341]"
HP:0033668,"""A structural anomaly of the amygdala."" []"
HP:0033669,"""A increase in the volume (size) of the amygdyla."" [ORCID:0000-0002-1735-8178, PMID:12933928, PMID:21047879, PMID:33044668]"
HP:0033670,"""Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities."" [PMID:18195376]"
HP:0033671,"""Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow."" [PMID:18195376]"
HP:0033672,"""The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve."" [PMID:21524035, PMID:32310394]"
HP:0033673,"""The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger)."" [PMID:31773104]"
HP:0033674,"""Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung."" [PMID:18195376]"
HP:0033675,"""A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised."" [PMID:11253156]"
HP:0033676,"""A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating)."" [PMID:26611143]"
HP:0033677,"""Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300."" [PMID:28613773]"
HP:0033678,"""The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI)."" [PMID:19797781]"
HP:0033679,"""Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement."" [ORCID:0000-0002-1735-8178]"
HP:0033680,"""The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities."" [ORCID:0000-0002-1735-8178, PMID:23817572]"
HP:0033681,"""Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG."" [HPO:probinson, ORCID:0000-0002-1735-8178, PMID:32644610]"
HP:0033682,"""Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth."" [ORCID:0000-0002-1735-8178, PMID:30051528, PMID:31535562]"
HP:0033683,"""Increased intensity of muscle tendon reflexes in jaw."" []"
HP:0033684,"""Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types"" [PMID:27199166]"
HP:0033685,"""An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type."" [PMID:32715519]"
HP:0033686,"""Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM."" [PMID:32715519]"
HP:0033687,"""A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds)."" [PMID:18394484, PMID:31424720]"
HP:0033688,"""A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that)."" [PMID:18394484, PMID:31424720]"
HP:0033689,"""The impaired ability to establish new long-term memories."" [PMID:24041667]"
HP:0033690,"""Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia."" [PMID:24041667]"
HP:0033691,"""A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument."" []"
HP:0033692,"""Impaired ability to remember facts and events."" [PMID:33524264]"
HP:0033693,"""Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor."" [PMID:28334095]"
HP:0033694,"""The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object."" []"
HP:0033695,"""This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities."" []"
HP:0033696,"""Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet."" [PMID:32348545, PMID:33479703]"
HP:0033697,"""A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic."" [PMID:33008676]"
HP:0033698,"""A type of vesicular eruption in which the vesicles are at same stages."" [PMID:32348545]"
HP:0033699,"""A type of vesicular eruption in which the vesicles are at different stages."" []"
HP:0033700,"""An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point."" [PMID:32579185]"
HP:0033701,"""Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing."" [PMID:17404618]"
HP:0033702,"""This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present)."" [PMID:18195376]"
HP:0033703,"""Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found"" [ORCID:0000-0002-1735-8178, PMID:25408925, PMID:26493957]"
HP:0033704,"""An increased amount of homogentisic acid in the urine."" [PMID:32809406]"
HP:0033705,"""A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control."" [PMID:33345598]"
HP:0033706,"""This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in\nthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis."" [PMID:18195376]"
HP:0033707,"""Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth."" [PMID:32965877]"
HP:0033708,Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity
HP:0033709,"""An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway)."" [PMID:16983448, PMID:21121836]"
HP:0033710,"""A perception of shortness of breath that occurs independently of exertion."" []"
HP:0033711,"""Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening."" []"
HP:0033712,"""Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles."" [PMID:22976427, PMID:25473625]"
HP:0033713,"""The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle."" [PMID:29582188, PMID:30639649, PMID:33093664]"
HP:0033714,"""The occurrence of multiple distinct meningiomas in the same individual."" [ORCID:0000-0002-1735-8178, PMID:15635074]"
HP:0033715,"""Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus."" [ORCID:0000-0002-1735-8178, PMID:12117357, PMID:24762203, PMID:26060898]"
HP:0033716,"""Focal epileptiform EEG discharges recorded in the frontal region."" []"
HP:0033717,"""Focal epileptiform EEG discharges recorded in the temporal region."" [ORCID:0000-0002-1735-8178]"
HP:0033718,"""Focal epileptiform EEG discharges recorded in the central region."" [ORCID:0000-0002-1735-8178]"
HP:0033719,"""Focal epileptiform EEG discharges recorded in the parietal region."" [ORCID:0000-0002-1735-8178]"
HP:0033720,"""Focal epileptiform EEG discharges recorded in the occipital region."" [ORCID:0000-0002-1735-8178]"
HP:0033721,"""Focal epileptiform EEG discharges recorded in the centrotemporal region."" [ORCID:0000-0002-1735-8178]"
HP:0033722,"""An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region."" [ORCID:0000-0002-1735-8178, PMID:20926350]"
HP:0033723,"""Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins."" []"
HP:0033724,"""An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses."" [ORCID:0000-0002-1735-8178, PMID:29923367]"
HP:0033725,"""An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration)."" [ORCID:0000-0002-1735-8178]"
HP:0033726,"""Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management."" [ORCID:0000-0002-2234-4248, PMID:31974366]"
HP:0033727,"""A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations."" [ORCID:0000-0002-2234-4248, PMID:31974366]"
HP:0033728,"""A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy."" [ORCID:0000-0002-2234-4248, PMID:31974366]"
HP:0033729,"""A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence."" [ORCID:0000-0002-2234-4248, PMID:31974366]"
HP:0033730,"""A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis"" [PMID:31974366]"
HP:0033731,"""A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations"" [ORCID:0000-0002-2234-4248, PMID:31974366]"
HP:0033732,"""A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity."" [ORCID:0000-0002-2234-4248, PMID:31974366]"
HP:0033733,"""Vesicoureteral reflux without dilation of the renal calyces (Grade I-II)."" [ORCID:0000-0002-2234-4248, PMID:18322164]"
HP:0033734,"""Vesicoureteral reflux with dilation of the renal calyces (Grade III - V)."" [ORCID:0000-0002-2234-4248, PMID:18322164]"
HP:0033735,"""Vesicoureteral reflux into the ureter only."" [ORCID:0000-0002-2234-4248, PMID:18322164]"
HP:0033736,"""Vesicoureteral reflux into a non-dilated pyelocalyceal system."" [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:3975102]"
HP:0033737,"""Vesicoureteral reflux with dilatation of the collecting system."" [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:3975102]"
HP:0033738,"""Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction."" [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:19668250]"
HP:0033739,"""Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction."" [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:19668250]"
HP:0033740,"""Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter."" [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:3975102]"
HP:0033741,"""Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter."" [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:3975102]"
HP:0033742,"""Severe vesicoureteral reflux reaching the kidney parenchyma."" [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:33738272]"
HP:0033743,"""A congenital defect characterized by lack of development of the macula."" []"
HP:0033744,Global cerebellar dysplasia
HP:0033745,Dysplasia of the superior cerebellar vermis
HP:0033746,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades."" []"
HP:0033747,"""A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes."" []"
HP:0033748,"""Decreased ability to perceive touch."" []"
HP:0033749,"""A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation."" [PMID:29763183]"
HP:0033750,"""An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation."" [PMID:29763183]"
HP:0033751,"""An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation."" [PMID:29763183]"
HP:0033752,"""Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs)."" []"
HP:0033753,"""Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation."" []"
HP:0033754,"""Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole)."" [PMID:19159437, PMID:29446315]"
HP:0033755,"""Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole)."" []"
HP:0033756,"""Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole)."" []"
HP:0033757,"""Fat infiltration in the pancreas."" [PMID:32490903]"
HP:0033758,"""A circumscribed area of pus or necrotic debris in the labia."" [PMID:7598776]"
HP:0033759,"""Decreased renal tubular reabsorption of magnesium."" [ORCID:0000-0002-2234-4248, PMID:25287933]"
HP:0033760,"""Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload."" [PMID:29506981]"
HP:0033761,"""Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells."" [ORCID:0000-0002-2234-4248, PMID:21526966]"
HP:0033762,"""Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain."" [PMID:32310592]"
HP:0033763,"""Cessation of life at the age of 16 years or later."" []"
HP:0033764,"""Death between the age of 40 and 60 years."" [ORCID:0000-0002-6410-0882]"
HP:0033765,"""Death at an age of at least 60 years."" [ORCID:0000-0002-6410-0882]"
HP:0033766,"""Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis)."" [PMID:23814690]"
HP:0033767,"""Abnormally high or low single motor unit action potential reading (-Pk Amps)."" [PMID:15961866]"
HP:0033768,"""Overgrowth of candida albicans in the penis."" [PMID:27659805]"
HP:0033769,"""Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps."" [PMID:20567540]"
HP:0033770,"""An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia."" [NCIT:C4004, PMID:15621988, PMID:28569272]"
HP:0033771,"""Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling."" [PMID:28925655]"
HP:0033772,"""Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography."" [PMID:12934788]"
HP:0033773,"""An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography."" [PMID:12934788]"
HP:0033774,"""Decreased renal tubular reabsorption of uric acid."" [ORCID:0000-0002-2234-4248, PMID:27105641, PMID:31474092]"
HP:0033775,"""An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images."" [PMID:31802270]"
HP:0033776,"""Small nodules of enamel on the root of a tooth."" [PMID:31468724]"
HP:0033777,"""Additional cusps of a dental crown."" [PMID:31468724]"
HP:0033778,"""An additional cusp located in the middle of the occlusal surface."" [PMID:31468724]"
HP:0033779,"""A tooth crown with convex mesial and distal surfaces."" [PMID:31468724]"
HP:0033780,"""A tooth crown with a marked cervical area constriction."" [PMID:31468724]"
HP:0033781,"""A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors."" [PMID:31468724]"
HP:0033782,"""An incisor with a half-moon shape incisal edge."" []"
HP:0033783,"""Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars."" [PMID:31468724]"
HP:0033784,"""This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications."" [PMID:31468724]"
HP:0033785,"""Complete or almost complete absence of enamel."" [PMID:31468724]"
HP:0033786,"""Enamel with a white or brown discoloration without hypoplasia."" [PMID:31468724]"
HP:0033787,"""The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth."" [PMID:31468724]"
HP:0033788,"""Excess of cementum on the tooth root surface."" [PMID:31468724]"
HP:0033789,"""Applies to a sign or symptom that is provoked or brought about by eating cheese."" [PMID:9398858]"
HP:0033790,"""A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations."" [PMID:31468724]"
HP:0033791,"""Fusion of a tooth with alveolar bone."" [PMID:31468724]"
HP:0033792,"""Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth."" [PMID:31468724]"
HP:0033793,"""Applies to a sign or symptom that is provoked or brought about by eating a certain food."" []"
HP:0033794,"""Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement."" [PMID:27477558, PMID:27812777, PMID:30853479]"
HP:0033795,Growth without growth hormone
HP:0033796,"""A functional abnormality of a white blood cell."" []"
HP:0033797,"""Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization."" []"
HP:0033798,"""During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation."" [PMID:23351991]"
HP:0033799,"""Any deviation from the normal concentration of a sex hormone in the blood circulation"" []"
HP:0033800,"""Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur."" []"
HP:0033801,"""Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa."" [PMID:20055907]"
HP:0033802,"""A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells."" []"
HP:0033803,"""A type of blistering in which the cleavage plane of blisters is located below the lamina densa."" []"
HP:0033804,"""A type of blistering in which the lesions are located beneath the epidermis."" []"
HP:0033805,"""A granuloma which is not associated with necrotic changes."" [PMID:32476832]"
HP:0033806,"""An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum."" []"
HP:0033807,"""Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin."" [PMID:30725734]"
HP:0033808,"""A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily."" [PMID:21592287]"
HP:0033809,"""Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids."" []"
HP:0033810,"""A reduced concentration of dihydrotestosterone in the blood circulation."" [PMID:20301592, PMID:31888681]"
HP:0033811,"""Any deviation from the normal concentration of androstenedione in the blood circulation."" []"
HP:0033812,"""Reduced concentration of androstenedione in the blood circulation."" []"
HP:0033813,"""Situated or occurring around a lobe of an organ."" []"
HP:0033814,"""Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa."" []"
HP:0033815,"""Centered in bronchi or bronchioles."" []"
HP:0033816,"""Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs."" []"
HP:0033817,"""Characterized by numerous small lesions said to resemble millet seed."" []"
HP:0033818,"""Applies to an abnormality whose distribution and appearance resembles a net or network-like structure."" []"
HP:0033819,"""Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel)."" []"
HP:0033820,"""Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung."" []"
HP:0033821,"""A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics)."" []"
HP:0033822,"""A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter\n(without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features."" []"
HP:0033823,"""A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics)."" []"
HP:0033824,"""A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics)."" []"
HP:0033825,"""A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4)."" []"
HP:0033826,"""A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4)."" []"
HP:0033827,"""A type of inferior mediastinal mass that is located in front of the pericardium."" []"
HP:0033828,"""A type of inferior mediastinal mass that is located withinthe pericardium."" []"
HP:0033829,"""A type of inferior mediastinal mass that is located behind the pericardium."" []"
HP:0033830,"""A type of pulmonary mass with high attenuation."" []"
HP:0033831,"""Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm."" [ORCID:0000-0002-4095-8489]"
HP:0033832,"""A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels."" [PMID:17143977]"
HP:0033833,"""Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response."" [PMID:32619646]"
HP:0033834,"""A feeling of general discomfort, weakness, or lack of health."" []"
HP:0033835,"""Anomalous structure of a blood vessel in the kidney."" []"
HP:0033836,"""An anomalous structure of an artery located in the kidney."" []"
HP:0033837,"""Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla."" []"
HP:0033838,"""A state of feeling very unhappy, uneasy, or dissatisfied."" []"
HP:0033839,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes."" []"
HP:0033840,"""Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy."" [PMID:17339971]"
HP:0033841,"""Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye."" [PMID:29862322, PMID:29988128]"
HP:0033842,"""The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food."" [PMID:21369493, PMID:27781342]"
HP:0033843,"""Feeling excessively full after meals."" [PMID:27781342]"
HP:0033844,"""The sensation that thoughts are moving too quickly."" []"
HP:0033845,"""A feeling that something life-threatening or tragic is about to occur."" [PMID:18577027]"
HP:0033846,"""Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis."" [PMID:23643384]"
HP:0033847,"""A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment."" []"
HP:0033848,"""A type of aphasia that is characterized by impaired language comprehension."" [PMID:28722980]"
HP:0033849,"""The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages."" [PMID:31024369]"
HP:0033850,"""Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness."" [PMID:16770929, PMID:32491414]"
HP:0033851,"""Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction."" [PMID:18004962]"
HP:0033852,"""Abnormal structure of a vein located inside the kidney parenchyma."" [KPMP:arosenberg]"
HP:0033853,"""Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla)."" [KPMP:arosenberg]"
HP:0033854,"""Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct)."" [KPMP:arosenberg]"
HP:0033855,"""Any structural anomaly located in the the inside space of the interlobular veins of the kidney."" []"
HP:0033856,"""Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin."" [KPMP:arosenberg, PMID:27012950]"
HP:0033857,"""Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney."" [KPMP:arosenberg]"
HP:0033858,"""Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney."" [KPMP:arosenberg]"
HP:0033859,"""Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,"" []"
HP:0033860,"""Anomalous structure of the peritubular capillaries located in the cortex of the kidney."" []"
HP:0033861,"""Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers."" [KPMP:arosenberg, PMID:21720964]"
HP:0033862,"""Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells."" [KPMP:arosenberg, PMID:25738252]"
HP:0033863,"""Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney."" [KPMP:arosenberg]"
HP:0033864,"""Anomalous structure of the peritubular capillaries located in the medulla of the kidney."" [KPMP:arosenberg]"
HP:0033865,"""Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells."" [KPMP:arosenberg]"
HP:0033866,"""Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open)."" [KPMP:arosenberg, PMID:28794065]"
HP:0033867,"""Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers."" [KPMP:arosenberg]"
HP:0033868,"""Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney."" []"
HP:0033869,"""Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin."" [KPMP:arosenberg]"
HP:0033870,"""Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney."" [KPMP:arosenberg]"
HP:0033871,"""Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney."" []"
HP:0033872,"""Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin."" []"
HP:0033873,"""Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney."" []"
HP:0033874,"""Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney."" [KPMP:arosenberg]"
HP:0033875,"""Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney."" [KPMP:arosenberg]"
HP:0033876,"""Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin."" [KPMP:arosenberg]"
HP:0033877,"""Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney."" [KPMP:arosenberg]"
HP:0033878,"""Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney."" [KPMP:arosenberg]"
HP:0033879,"""Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney."" [KPMP:arosenberg]"
HP:0033880,"""Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining."" []"
HP:0033881,"""Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney."" [KPMP:arosenberg]"
HP:0033882,"""Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy."" [KPMP:arosenberg]"
HP:0033883,"""Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney."" []"
HP:0033884,"""Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney."" []"
HP:0033885,"""Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin."" [KPMP:arosenberg]"
HP:0033886,"""Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla."" []"
HP:0033887,"""Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy"" [KPMP:arosenberg]"
HP:0033888,"""Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney."" []"
HP:0033889,"""Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents."" [PMID:29489242]"
HP:0033890,"""Abnormal structural characteristics of the interior space (lumen) of renal arterioles."" [KPMP:arosenberg]"
HP:0033891,"""Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin."" [KPMP:arosenberg]"
HP:0033892,"""Any structural anomaly located in the inner or middle layer of the arterioles of the kidney."" [KPMP:arosenberg]"
HP:0033893,"""Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney."" []"
HP:0033894,"""Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney."" [KPMP:arosenberg]"
HP:0033895,"""Any structural anomaly of the lining (endothelium) of the arterioles of the kidney."" []"
HP:0033896,"""Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney."" []"
HP:0033897,"""Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin."" []"
HP:0033898,"""Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney."" []"
HP:0033899,"""Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney."" []"
HP:0033900,"""Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy."" [KPMP:arosenberg]"
HP:0033901,"""Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney."" []"
HP:0033902,"""Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling."" [KPMP:arosenberg]"
HP:0033903,"""Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney."" [KPMP:arosenberg]"
HP:0033904,"""Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis."" [KPMP:arosenberg]"
HP:0033905,"""Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina."" [KPMP:arosenberg]"
HP:0033906,"""Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural."" [KPMP:arosenberg]"
HP:0033907,"""Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina."" [KPMP:arosenberg]"
HP:0033908,"""Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney."" [KPMP:arosenberg]"
HP:0033909,"""Increased thickness of middle layer of the arcuate veins of the kidney."" [KPMP:arosenberg]"
HP:0033910,"""Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney."" [KPMP:arosenberg]"
HP:0033911,"""Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney."" []"
HP:0033912,"""Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney."" [KPMP:arosenberg]"
HP:0033913,"""Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney."" []"
HP:0033914,"""Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy."" []"
HP:0033915,"""Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining."" [KPMP:arosenberg]"
HP:0033916,"""Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins."" [KPMP:arosenberg]"
HP:0033917,"""Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural."" []"
HP:0033918,"""Increased thickness of middle layer of the arterioles of the kidney."" []"
HP:0033919,"""Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural."" [KPMP:arosenberg]"
HP:0033920,"""Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney."" []"
HP:0033921,"""Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney."" [KPMP:arosenberg]"
HP:0033922,"""A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes)."" [KPMP:arosenberg]"
HP:0033923,"""A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen."" [KPMP:arosenberg]"
HP:0033924,"""A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen."" [KPMP:arosenberg]"
HP:0033925,"""A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen."" []"
HP:0033926,"""Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney."" [KPMP:arosenberg]"
HP:0033927,"""Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes)."" [KPMP:arosenberg]"
HP:0033928,"""A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen."" [KPMP:arosenberg]"
HP:0033929,"""A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery."" [KPMP:arosenberg]"
HP:0033930,"""A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery."" [KPMP:arosenberg]"
HP:0033931,"""Death of tissue in the inner or middle layer of the arcuate artery of the kidney."" [KPMP:arosenberg]"
HP:0033932,"""A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures."" [KPMP:arosenberg]"
HP:0033933,"""A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized."" [KPMP:arosenberg]"
HP:0033934,"""Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney."" [KPMP:arosenberg]"
HP:0033935,"""Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney."" [KPMP:arosenberg]"
HP:0033936,"""A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized."" [KPMP:arosenberg]"
HP:0033937,"""A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures."" [KPMP:arosenberg]"
HP:0033938,"""Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney."" [KPMP:arosenberg]"
HP:0033939,"""A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized."" []"
HP:0033940,"""A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures."" [KPMP:arosenberg]"
HP:0033941,"""A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries."" [KPMP:arosenberg]"
HP:0033942,"""Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney."" []"
HP:0033943,"""A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures."" [KPMP:arosenberg]"
HP:0033944,"""A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized."" [KPMP:arosenberg]"
HP:0033945,"""A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins."" [KPMP:arosenbereg]"
HP:0033946,"""Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney."" [KPMP:arosenberg]"
HP:0033947,"""Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney."" []"
HP:0033948,"""Inflammation of the inner or middle layer of the arcuate arteries of the kidney."" [KPMP:arosenberg]"
HP:0033949,"""A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries."" []"
HP:0033950,"""Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney."" [KPMP:arosenberg]"
HP:0033951,"""Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney."" [KPMP:arosenberg]"
HP:0033952,"""Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney."" [KPMP:arosenberg]"
HP:0033953,"""Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling."" [KPMP:arosenberg]"
HP:0033954,"""Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney."" [KPMP:arosenberg]"
HP:0033955,"""A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes)."" []"
HP:0033956,"""A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries."" [KPMP:arosenberg]"
HP:0033957,"""A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries."" []"
HP:0033958,"""A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney."" [KPMP:arosenberg]"
HP:0033959,"""Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina."" [KPMP:arosenberg]"
HP:0033960,"""Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining."" [KPMP:arosenberg]"
HP:0033961,"""Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers."" [KPMP:arosenberg]"
HP:0033962,"""A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries."" [KPMP:arosenberg]"
HP:0033963,"""Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney."" []"
HP:0033964,"""Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney."" [KPMP:arosenberg]"
HP:0033965,"""Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining."" []"
HP:0033966,"""Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy"" [KPMP:arosenberg]"
HP:0033967,"""Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural."" [KPMP:arosenberg]"
HP:0033968,"""A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins."" [KPMP:arosenberg]"
HP:0033969,"""Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney."" [KPMP:arosenberg]"
HP:0033970,"""A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized."" [KPMP:arosenberg]"
HP:0033971,"""A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures."" [KPMP:arosenberg]"
HP:0033972,"""Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney."" [KPMP:arosenberg]"
HP:0033973,"""Increased thickness of middle layer of the interlobular veins of the kidney."" [KPMP:arosenberg]"
HP:0033974,"""Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers."" [KPMP:arosenberg]"
HP:0033975,"""Absence of the fingernail of the index (second) finger."" [PMID:33568816]"
HP:0033976,"""The presence of an extra nail on the palmar (volar, ventral) surface of the finger."" [PMID:20724029]"
HP:0033977,"""Absent talus owing to a congenital defect."" [PMID:28436373]"
HP:0033978,"""Diminished activity of the enzyme beta-hexosaminidase in the blood circulation."" [PMID:33407268]"
HP:0033979,"""Excessive anterior displacement of the tracheal and/or bronchial membranous wall."" [ORCID:0000-0002-4095-8489]"
HP:0033980,"""Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness."" [PMID:29095389]"
HP:0033981,"""Abnormal tortuous (i.e., twisted) form of the vertebral arteries."" []"
HP:0033982,"""A separation (dissection) of the layers of the celiac artery wall."" [PMID:32938213]"
HP:0033983,"""Reduced concentration of apolipoprotein C-II in the blood circulation."" []"
HP:0033984,"""An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine."" []"
HP:0033985,"""Increased length of the neck of the femur."" [PMID:33252156]"
HP:0033986,"""The presence of an increased number of twists and turns of lymphatic vessels."" [PMID:26855770]"
HP:0033987,"""A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites."" [PMID:33442358]"
HP:0033988,"""An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically."" [ORCID:0000-0003-2307-1226, PMID:10867785]"
HP:0033989,"""An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically."" [ORCID:0000-0003-2307-1226, PMID:10867785]"
HP:0033990,"""Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness."" []"
HP:0033991,"""Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally."" [PMID:32028503, PMID:33880195]"
HP:0033992,"""Inability of the heart to increase its rate commensurate with increased activity or demand."" [PMID:21382903]"
HP:0033993,"""An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction."" [PMID:21960712, PMID:30366550]"
HP:0033994,"""Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition."" []"
HP:0033995,"""The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes."" [PMID:26830108]"
HP:0033996,"""The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures."" [PMID:26830108]"
HP:0033997,"""Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart."" [PMID:32514796]"
HP:0033998,"""A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes."" [PMID:17853480]"
HP:0033999,"""Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy."" [KMU:kknoflach]"
HP:0034000,"""Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy."" [KMU:kknoflach]"
HP:0034001,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H."" [ORCID:0000-0002-3387-1836, PMID:34032207, PMID:34032209]"
HP:0034002,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor."" [ORCID:0000-0002-3387-1836, PMID:34169209, PMID:34277215]"
HP:0034003,"""Regional increase in the width (height) of the middle portion of the eyebrow."" []"
HP:0034004,"""Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli."" [PMID:33790036, PMID:34055592]"
HP:0034005,"""An abnormal reduction in the amount of spines on a given dendrite."" []"
HP:0034006,"""A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation."" [PMID:26306627]"
HP:0034007,"""The presence of atrophy (wasting) of the posterior portion of the corpus callosum."" []"
HP:0034008,"""Wasting (atrophy) of the optic chiasm."" [PMID:34161705]"
HP:0034009,"""Overgrowth of fat in the perivesical and perirectal area."" [PMID:25247089]"
HP:0034010,"""Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow."" [PMID:10891439]"
HP:0034011,"""A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion."" [PMID:8957699]"
HP:0034012,"""Decreased sweating on the palms and soles."" [PMID:24664640]"
HP:0034013,"""A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum."" [ORCID:0000-0002-3302-4610, PMID:28067000, PMID:30104143, PMID:31285412]"
HP:0034014,"""A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles."" [ORCID:0000-0002-3302-4610, PMID:1885799, PMID:31587959]"
HP:0034015,"""Thick-walled abnormal gas-filled interstitial nodule within a lung."" [ORCID:0000-0002-4095-8489]"
HP:0034016,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA)."" [PMID:29985463]"
HP:0034017,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C)."" []"
HP:0034018,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR)."" []"
HP:0034019,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A)."" []"
HP:0034020,"""The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A)."" []"
HP:0034021,"""The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A)."" []"
HP:0034022,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B)."" []"
HP:0034023,"""The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B)."" []"
HP:0034024,"""The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B)."" []"
HP:0034025,"""Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation."" []"
HP:0034026,"""An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine."" [PMID:571908]"
HP:0034027,"""Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids."" []"
HP:0034028,"""Presence of saccharopine in the urine."" [PMID:30573525, PMID:32768327, PMID:33996359]"
HP:0034029,"""The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver."" []"
HP:0034030,"""Bluish discoloration of the lips."" [ORCID:0000-0002-9578-0788]"
HP:0034031,"""Bluish discoloration of one or more regions of the face."" [ORCID:0000-0002-9578-0788]"
HP:0034032,"""Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin."" [ORCID:0000-0002-9578-0788, PMID:32644593]"
HP:0034033,"""Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved."" [ORCID:0000-0002-9578-0788, PMID:32644593]"
HP:0034034,"""Differential degree of bluish discoloration between the upper and lower extremities."" [ORCID:0000-0002-9578-0788, PMID:32644593]"
HP:0034035,"""Fluid exuded from the posterior wall of the pharynx."" [ORCID:0000-0002-9578-0788]"
HP:0034036,"""Inflammatory chilblain-like nodules on the feet and/or toes."" [ORCID:0000-0002-9578-0788, PMID:33972057]"
HP:0034037,"""Inflammatory chilblain-like nodules on the hands and/or fingers."" [ORCID:0000-0002-9578-0788, PMID:33972057]"
HP:0034038,"""Abnormally low blood oxygen level without the presence of dyspnea."" [ORCID:0000-0002-9578-0788, PMID:32539537]"
HP:0034039,"""Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats."" [PMID:24826218]"
HP:0034040,"""Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm."" [PMID:25173208, PMID:30567276]"
HP:0034041,"""Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy."" [PMID:32063472]"
HP:0034042,"""Abnormally increased hair growth in the lskin of the back."" []"
HP:0034043,"""Elevated amount of bile acids in the feces."" [PMID:9109432]"
HP:0034044,"""Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident."" [PMID:28744080]"
HP:0034045,"""Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip."" [PMID:22938878, PMID:32529201]"
HP:0034046,"""Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible."" [PMID:21932319]"
HP:0034047,"""Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib."" [PMID:21932319]"
HP:0034048,"""A reduced concentration of chenodeoxycholic acid in the blood circulation."" []"
HP:0034049,"""An increased amount of prostaglandin E2 in the urine."" [PMID:24838973]"
HP:0034050,"""An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine."" [PMID:28700713]"
HP:0034051,"""Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule."" [PMID:32395406]"
HP:0034052,"""Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes."" []"
HP:0034053,Decreased acid ceramidase activity
HP:0034054,"""Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles."" [PMID:17898206, PMID:33642486]"
HP:0034055,"""The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583)."" [ORCID:0000-0002-3387-1836, PMID:9030872]"
HP:0034056,"""An increased amount of calprotectin in the feces."" []"
HP:0034057,"""Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate."" []"
HP:0034058,"""Any structural anomaly of the fetus."" []"
HP:0034059,"""Any functional anomaly of the fetus."" []"
HP:0034060,"""Applies to a sign or symptom that is provoked or brought about by eating fava beans."" [PMID:29298156]"
HP:0034061,"""The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase."" [ORCID:0000-0002-3387-1836, PMID:9030872]"
HP:0034062,"""The presence of autoantibodies (immunoglobulins) in the serum that react against insulin."" [ORCID:0000-0002-3387-1836, PMID:17143785]"
HP:0034063,"""The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2."" [ORCID:0000-0002-3387-1836, PMID:9693976]"
HP:0034064,"""The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein."" [ORCID:0000-0002-3387-1836, PMID:34249010]"
HP:0034065,"""The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8."" [ORCID:0000-0002-3387-1836, PMID:32946793]"
HP:0034066,"""The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI."" [ORCID:0000-0002-3387-1836, PMID:34249010]"
HP:0034067,"""Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes."" [PMID:18461349, PMID:7529919]"
HP:0034068,"""The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide."" [ORCID:0000-0002-3387-1836, PMID:30075546]"
HP:0034069,"""The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein."" [ORCID:0000-0002-3387-1836, PMID:34249010]"
HP:0034070,"""The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes."" [ORCID:0000-0002-3387-1836, PMID:24051695, PMID:33744411]"
HP:0034071,"""The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase."" [ORCID:0000-0002-3387-1836, PMID:22707647, PMID:9030872]"
HP:0034072,"""Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging."" [PMID:21472065]"
HP:0034073,"""An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis."" []"
HP:0034074,"""An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization."" [PMID:24091809, PMID:28548288]"
HP:0034075,"""Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100."" [PMID:16333315]"
HP:0034076,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po."" [ORCID:0000-0002-3387-1836, PMID:14645862, PMID:25815344]"
HP:0034077,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q."" [ORCID:0000-0002-3387-1836, PMID:25815344]"
HP:0034078,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A."" [ORCID:0000-0002-3387-1836, PMID:30316987]"
HP:0034079,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B."" [ORCID:0000-0002-3387-1836, PMID:30316987]"
HP:0034080,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP."" [ORCID:0000-0002-3387-1836, PMID:34207757]"
HP:0034081,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To."" [ORCID:0000-0002-3387-1836, PMID:30316987]"
HP:0034082,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2."" [ORCID:0000-0002-3387-1836, PMID:29369808]"
HP:0034083,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90."" [ORCID:0000-0002-3387-1836, PMID:28749191]"
HP:0034084,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine."" [ORCID:0000-0002-3387-1836, PMID:22796282]"
HP:0034085,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100."" [ORCID:0000-0002-3387-1836, PMID:28749191]"
HP:0034086,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75."" [ORCID:0000-0002-3387-1836, PMID:28749191]"
HP:0034087,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP."" [ORCID:0000-0002-3387-1836, PMID:19565553]"
HP:0034088,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku."" [ORCID:0000-0002-3387-1836, PMID:28749191]"
HP:0034089,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23."" [ORCID:0000-0002-3387-1836, PMID:30316987]"
HP:0034090,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2."" [ORCID:0000-0002-3387-1836, PMID:30316987]"
HP:0034091,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor."" [ORCID:0000-0002-3387-1836, PMID:28749191]"
HP:0034092,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide."" [ORCID:0000-0002-3387-1836, PMID:30316987]"
HP:0034093,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21."" [ORCID:0000-0002-3387-1836, PMID:28749191]"
HP:0034094,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1."" [ORCID:0000-0002-3387-1836, PMID:28749191]"
HP:0034095,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor."" [ORCID:0000-0002-3387-1836, PMID:28749191]"
HP:0034096,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid."" [ORCID:0000-0002-3387-1836, PMID:30868842]"
HP:0034097,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline."" [ORCID:0000-0002-3387-1836, PMID:31354742]"
HP:0034098,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol."" [ORCID:0000-0002-3387-1836, PMID:26563139]"
HP:0034099,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol."" [ORCID:0000-0002-3387-1836, PMID:31354742]"
HP:0034100,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine."" [ORCID:0000-0002-3387-1836, PMID:26563139]"
HP:0034101,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V."" [ORCID:0000-0002-3387-1836, PMID:33464429]"
HP:0034102,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids."" [ORCID:0000-0002-3387-1836, PMID:31354742]"
HP:0034103,"""Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury"" [ORCID:0000-0002-3387-1836, PMID:32460711]"
HP:0034104,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase."" [ORCID:0000-0002-3387-1836, PMID:32091008]"
HP:0034105,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma."" [ORCID:0000-0002-3387-1836, PMID:33876712]"
HP:0034106,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2."" [ORCID:0000-0002-3387-1836, PMID:33876712]"
HP:0034107,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53."" [ORCID:0000-0002-3387-1836, PMID:29554146]"
HP:0034108,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1."" [ORCID:0000-0002-3387-1836, PMID:29554146]"
HP:0034109,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182."" [ORCID:0000-0002-3387-1836, PMID:14598044, PMID:29554146]"
HP:0034110,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1."" [ORCID:0000-0002-3387-1836, PMID:29554146]"
HP:0034111,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3."" [ORCID:0000-0002-3387-1836, PMID:29554146, PMID:32286240]"
HP:0034112,"""The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1."" [ORCID:0000-0002-3387-1836, PMID:32460711]"
HP:0034114,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1."" [ORCID:0000-0002-3387-1836, PMID:29554146]"
HP:0034115,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12."" [ORCID:0000-0002-3387-1836, PMID:29554146]"
HP:0034116,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody."" [ORCID:0000-0002-3387-1836, PMID:32459722]"
HP:0034117,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2."" [ORCID:0000-0002-3387-1836, PMID:33910447]"
HP:0034118,"""The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1."" [ORCID:0000-0002-3387-1836, PMID:34759020]"
HP:0034119,"""The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a."" [ORCID:0000-0002-3387-1836, PMID:24829594]"
HP:0034120,"""The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a."" [ORCID:0000-0002-3387-1836, PMID:31522790]"
HP:0034121,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a."" []"
HP:0034122,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b."" []"
HP:0034123,"""The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b."" [ORCID:0000-0002-3387-1836, PMID:24829594]"
HP:0034124,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside."" [ORCID:0000-0002-3387-1836, PMID:31837178]"
HP:0034125,"""The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside."" [ORCID:0000-0002-3387-1836, PMID:31837178]"
HP:0034126,"""The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside."" [ORCID:0000-0002-3387-1836, PMID:31837178]"
HP:0034127,"""The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b."" [ORCID:0000-0002-3387-1836, PMID:24829594]"
HP:0034128,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside."" []"
HP:0034129,"""The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside."" [ORCID:0000-0002-3387-1836, PMID:24829594]"
HP:0034130,"""The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside."" [ORCID:0000-0002-3387-1836, PMID:24829594]"
HP:0034131,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside."" [ORCID:0000-0002-3387-1836, PMID:17785314]"
HP:0034132,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2."" [ORCID:0000-0002-3387-1836, PMID:31522790]"
HP:0034133,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3."" [ORCID:0000-0002-3387-1836, PMID:34174799]"
HP:0034134,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4."" [ORCID:0000-0002-3387-1836, PMID:17785314]"
HP:0034135,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155."" [ORCID:0000-0002-3387-1836, PMID:32266541, PMID:34728497]"
HP:0034136,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186."" [ORCID:0000-0002-3387-1836, PMID:32266541, PMID:33723708]"
HP:0034137,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1."" [ORCID:0000-0002-3387-1836, PMID:32266541, PMID:34675937]"
HP:0034138,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1."" [ORCID:0000-0002-3387-1836, PMID:32266541]"
HP:0034139,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE."" [ORCID:0000-0002-3387-1836, PMID:33343724]"
HP:0034140,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1."" [ORCID:0000-0002-3387-1836, PMID:22884621]"
HP:0034141,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2."" [ORCID:0000-0002-3387-1836, PMID:22884621]"
HP:0034142,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2."" [ORCID:0000-0002-3387-1836, PMID:33343724]"
HP:0034143,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase."" [ORCID:0000-0002-3387-1836, PMID:22732951, PMID:33343724]"
HP:0034144,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60."" [ORCID:0000-0002-3387-1836, PMID:30915082, PMID:32083547]"
HP:0034145,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase."" [ORCID:0000-0002-3387-1836, PMID:33343724]"
HP:0034146,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase."" [ORCID:0000-0002-3387-1836, PMID:27212602]"
HP:0034147,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme."" [PMID:23573256]"
HP:0034148,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase."" [ORCID:0000-0002-3387-1836, PMID:33343724]"
HP:0034149,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase."" [ORCID:0000-0002-3387-1836, PMID:31665469]"
HP:0034150,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase."" [ORCID:0000-0002-3387-1836, PMID:32933078]"
HP:0034151,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase."" [ORCID:0000-0002-3387-1836, PMID:32933078]"
HP:0034152,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase."" [LMU:kknoflach, ORCID:0000-0002-3387-1836, PMID:15804708, PMID:26210509]"
HP:0034153,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A)."" [ORCID:0000-0002-3387-1836, PMID:32933078]"
HP:0034154,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki."" [ORCID:0000-0002-3387-1836, PMID:24557777]"
HP:0034155,"""The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins."" [PMID:32286240, PMID:33789734]"
HP:0034156,"""Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome."" [ORCID:0000-0002-3387-1836, PMID:33957795, PMID:34218350]"
HP:0034157,"""Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome."" [ORCID:0000-0002-3387-1836, PMID:33957795, PMID:34218350]"
HP:0034158,"""The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions."" [PMID:22966073]"
HP:0034159,"""A localized disorder of bone remodeling. Increased numbers of larger than normal osteoclasts initiate the process at affected skeletal sites, and the increase in bone resorption is followed by an increase in new bone formation, altering bone architecture."" []"
HP:0034160,"""Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation."" []"
HP:0034161,"""An abnormally decreased concentration of interleukin 9 in the blood circulation."" []"
HP:0034162,"""Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation."" []"
HP:0034163,"""An abnormally decreased concentration of interleukin 10 in the blood circulation."" []"
HP:0034164,"""Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation."" []"
HP:0034165,"""An abnormally decreased concentration of interleukin 21 in the blood circulation."" []"
HP:0034166,"""An abnormally increased concentration of interleukin 21 in the blood circulation."" []"
HP:0034167,"""Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation."" []"
HP:0034168,"""An abnormally decreased concentration of interleukin 22 in the blood circulation."" []"
HP:0034169,"""An abnormally increased concentration of interleukin 22 in the blood circulation."" []"
HP:0034170,"""Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation."" []"
HP:0034171,"""An abnormally decreased concentration of interleukin 23 in the blood circulation."" []"
HP:0034172,"""An abnormally increased concentration of interleukin 23 in the blood circulation."" []"
HP:0034173,"""Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation."" []"
HP:0034174,"""An abnormally decreased concentration of interleukin 27 in the blood circulation."" []"
HP:0034175,"""An abnormally increased concentration of interleukin 27 in the blood circulation."" []"
HP:0034176,"""Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation."" []"
HP:0034177,"""An abnormally decreased concentration of interleukin 17A in the blood circulation."" []"
HP:0034178,"""An abnormally increased concentration of interleukin 17A in the blood circulation."" []"
HP:0034179,"""Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery ."" []"
HP:0034180,"""Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule."" [PMID:26251641, PMID:31194327]"
HP:0034181,"""Absence or underdevelopment of the liver."" []"
HP:0034182,"""Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging."" [PMID:23573097]"
HP:0034183,"""Spastic weakness found in both lower extremities and one upper extremity."" [ORCID:0000-0002-6670-9157, PMID:27188686, PMID:32821558]"
HP:0034184,"""An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation."" []"
HP:0034185,"""A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline."" [PMID:25535458]"
HP:0034186,"""Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea."" [PMID:29309446]"
HP:0034187,"""A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint)."" [PMID:19232556]"
HP:0034188,"""Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach."" [PMID:12432114]"
HP:0034189,"""The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone."" [ORCID:0000-0002-3387-1836, PMID:10874533, PMID:26293122, PMID:3018097, PMID:30224035]"
HP:0034190,"""Abnormal functionality of the fetal cardiovascular system."" []"
HP:0034191,"""Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound."" [ORCID:0000-0002-8593-2186, PMID:28191060]"
HP:0034192,"""Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung."" [PMID:29770793]"
HP:0034193,"""Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis."" []"
HP:0034194,"""Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells."" []"
HP:0034195,"""Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium."" []"
HP:0034196,"""A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation)."" [PMID:10765517, PMID:21335936, PMID:24871613, PMID:24931552]"
HP:0034197,"""This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond."" []"
HP:0034198,"""This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive)."" []"
HP:0034199,"""This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive)."" []"
HP:0034200,"""Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine."" []"
HP:0034201,"""Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine."" []"
HP:0034202,Abnormal iduronate sulfatase concentration
HP:0034203,"""An decreased level of iduronate-2-sulfatase activity in the blood circulation."" []"
HP:0034204,"""Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation."" [PMID:30844193]"
HP:0034205,"""Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion."" [PMID:33294089]"
HP:0034206,"""An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."" []"
HP:0034207,"""An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."" []"
HP:0034208,"""Abnormal bleeding inside the skull (cranium) of a fetus."" []"
HP:0034209,"""A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch."" []"
HP:0034210,"""A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain."" [PMID:16082722, PMID:27734711]"
HP:0034211,"""A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain."" [PMID:16082722]"
HP:0034212,"""A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space)."" []"
HP:0034213,"""A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum."" []"
HP:0034214,"""A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium."" [PMID:16082722]"
HP:0034215,"""A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum."" [PMID:12795563, PMID:26426778]"
HP:0034216,"""A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum."" [PMID:26426778]"
HP:0034217,"""Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation."" [PMID:8915088]"
HP:0034218,"""A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography."" []"
HP:0034219,"""A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma."" [PMID:12905503]"
HP:0034220,"""Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain."" [ORCID:0000-0001-8612-1062, PMID:19098178]"
HP:0034221,"""An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres."" []"
HP:0034222,"""A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations."" [ORCID:0000-0001-8612-1062, PMID:24585534]"
HP:0034223,"""Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth."" [PMID:32746120]"
HP:0034224,"""An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole."" []"
HP:0034225,"""An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow)."" [PMID:19797010]"
HP:0034226,"""Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding."" [ORCID:0000-0001-8612-1062, PMID:23408600, PMID:31173381]"
HP:0034227,"""A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta."" [PMID:27860551]"
HP:0034228,"""A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta."" [PMID:27860551]"
HP:0034229,"""A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta."" []"
HP:0034230,"""A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position)."" [PMID:29446682]"
HP:0034231,"""A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation."" [PMID:23599575, PMID:29446682]"
HP:0034232,"""A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly."" [PMID:29446682]"
HP:0034233,"""A type of cross fused renal ectopia in which kidneys fuse along their medial borders."" []"
HP:0034234,"""A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney."" [PMID:29446682]"
HP:0034235,"""A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly."" [PMID:29446682]"
HP:0034236,"""Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation."" [ORCID:0000-0002-6670-9157, PMID:21301866]"
HP:0034237,"""A type of neural tube defect that is not covered by skin."" [PMID:23456749]"
HP:0034238,"""A type of neural tube defect that is covered by skin."" [PMID:23456749]"
HP:0034239,"""The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output."" [PMID:30725656]"
HP:0034240,"""An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more."" [PMID:30422714]"
HP:0034241,"""Death of a fetus in the uterus."" []"
HP:0034242,"""An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."" []"
HP:0034243,"""An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes."" []"
HP:0034244,"""At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass."" [PMID:15888614]"
HP:0034245,Fetal head anomaly
HP:0034246,"""An abnormal growth (lump) of tissue that projects from the fetal scalp."" [PMID:24767653]"
HP:0034247,"""An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis."" [PMID:35136187]"
HP:0034248,"""Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus."" [PMID:27433255]"
HP:0034249,"""An unusually severe infection by an influenza virus."" [PMID:25814066]"
HP:0034250,"""Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis."" [PMID:16507941, PMID:9880279]"
HP:0034251,"""An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea."" [PMID:30480980]"
HP:0034252,"""Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles."" [PMID:30480980]"
HP:0034253,"""An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes."" [PMID:10732836, PMID:25313414]"
HP:0034254,"""The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda."" [PMID:14557570]"
HP:0034255,"""An aberrant, pathological communication between the colon and the bladder."" [PMID:30085532]"
HP:0034256,"""Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin."" [PMID:19945618]"
HP:0034257,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement."" [ORCID:0000-0002-3387-1836, PMID:23117396, PMID:27146825, PMID:28838767]"
HP:0034258,"""Absence or underdevelopment of the midbrain (mesencephalon)."" []"
HP:0034259,"""A developmental defect characterized by underdevelopment of the mesencephalon."" [PMID:25561519]"
HP:0034260,"""Developmental defect characterized by the absence of the zygomatic arch."" [PMID:26119818]"
HP:0034261,"""A developmental defect characterized by absence or underdevelopment of one or more facial bone."" []"
HP:0034262,"""Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby."" [PMID:26119818, PMID:30252348]"
HP:0034263,"""Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal."" [PMID:21250125]"
HP:0034264,"""Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle."" [PMID:25045355]"
HP:0034265,"""Pain in the breast."" [PMID:16533457]"
HP:0034266,"""Bleeding during sex."" []"
HP:0034267,"""Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones."" [PMID:32119472]"
HP:0034268,"""Any anomaly of vagina function."" []"
HP:0034269,"""Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina"" []"
HP:0034270,"""Incisor teeth with irregular edges said to resemble a saw."" [ORCID:0000-0003-3475-564X, PMID:25439729]"
HP:0034271,"""Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper."" [PMID:31466955]"
HP:0034272,"""Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea."" [PMID:34800980]"
HP:0034273,"""Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation."" [PMID:19338976]"
HP:0034274,"""A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae."" [PMID:16184417]"
HP:0034275,"""A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life."" [PMID:24364998]"
HP:0034276,"""Concentration of thymidine in the blood circulation above the normal range."" []"
HP:0034277,"""Concentration of 2-deoxyuridine in the blood circulation is above the normal range."" []"
HP:0034278,"""Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis."" [PMID:11994986, PMID:23744492]"
HP:0034279,"""The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals."" []"
HP:0034280,"""Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target."" [PMID:27372866, PMID:32965812]"
HP:0034281,"""Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery."" [PMID:22503633]"
HP:0034282,"""Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation."" [PMID:29059381]"
HP:0034283,"""Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces."" [PMID:8852667]"
HP:0034284,"""Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection."" [PMID:32491354]"
HP:0034285,"""Inflamation of the brain related to infection by an enterovirus."" []"
HP:0034286,"""Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations."" [PMID:10537385]"
HP:0034287,"""Lack of detectable fibrinogen in the blood circulation."" []"
HP:0034288,"""Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation."" [PMID:29883303]"
HP:0034289,"""An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation."" [PMID:29883303]"
HP:0034290,"""An increased concentration of tiglylglycine in the blood circulation."" [PMID:12696021]"
HP:0034291,"""An elevation above the normal range of creatine in the blood circulation."" [PMID:11326334]"
HP:0034292,"""An reduction below the normal range of creatine in the blood circulation."" []"
HP:0034293,"""The presence of calcium deposition within the temporal lobe of the brain."" [PMID:20027545]"
HP:0034294,"""Bile thrombi that form an obstruction (plug) in a dilated bile duct."" [PMID:2028872, PMID:22152905]"
HP:0034295,"""An abnormally low volume of the white matter of the brain."" []"
HP:0034296,"""Detection of 3,5,6-trichloro-2-pyridinol in the urine."" [PMID:15367928]"
HP:0034297,"""Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation."" [PMID:17336976]"
HP:0034298,"""Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation."" [PMID:17336976]"
HP:0034299,"""A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis."" [PMID:30484998]"
HP:0034300,"""Reduced enzyme of acid sphingomyelinase activity in the blood circulation."" []"
HP:0034301,"""A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract."" [PMID:28413299]"
HP:0034302,"""A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects."" [PMID:31926369]"
HP:0034303,"""A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV."" [PMID:29699857]"
HP:0034304,"""An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave."" [PMID:30796961]"
HP:0034305,"""A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex."" [PMID:23388215]"
HP:0034306,"""An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat."" [PMID:19043599]"
HP:0034307,"""The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae."" [PMID:25525505]"
HP:0034308,"""Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction."" [PMID:25425321]"
HP:0034309,"""Spermatozoa with multiple flagella attached to the sperm head."" [PMID:21733974]"
HP:0034310,"""Infection with the yellow fever virus of the live-attenuated vaccine."" [PMID:31270247]"
HP:0034311,"""Developmental defect characterized by undergrowth of the optic chiasm."" [PMID:23312594, PMID:23591992]"
HP:0034312,"""Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent."" [PMID:34630163]"
HP:0034313,"""An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent."" [PMID:26250903, PMID:29083812]"
HP:0034314,"""Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent."" [PMID:29083812]"
HP:0034315,"""A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children."" [PMID:29094873]"
HP:0034316,"""Reduced volume of pars compacta of the substantia nigra."" [PMID:26209139]"
HP:0034317,Unusual viral infection
HP:0034318,"""Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host."" [PMID:21799704]"
HP:0034319,"""A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries."" [PMID:30400213]"
HP:0034320,"""Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain."" [PMID:18274675]"
HP:0034321,"""An increased concentration of guanidinoacetic acid in the blood circulation."" [PMID:15651030]"
HP:0034322,"""Diminished enzyme activity of galactocerebrosidase."" [PMID:34015306]"
HP:0034323,"""Concentration of growth hormone in the blood circulation below normal limits."" []"
HP:0034324,"""An abnormal widening (dilatation) of the brachiocephalic artery"" [PMID:33743755]"
HP:0034325,"""An abnormal widening (dilatation) of the common carotid artery."" []"
HP:0034326,"""Ectopic endometrial tissue within the uterine myometrium."" [PMID:30969690]"
HP:0034327,"""Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination."" [PMID:29728753]"
HP:0034328,"""A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar."" [PMID:18701947]"
HP:0034329,"""A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly."" [PMID:29594439]"
HP:0034330,"""Decreased range of right ventricular motion in a portion of the right ventricle of the heart."" [PMID:16549640]"
HP:0034331,"""Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle."" [PMID:15664548]"
HP:0034332,"""Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones."" []"
HP:0034333,"""Elevated concentration of hypoxanthine in the blood circulation."" []"
HP:0034335,"""The terms in this hierarchy can be used to specificy the context in which inheritance of a disease is typically observed."" []"
HP:0034336,"""Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion."" [PMID:23281181, PMID:28613652]"
HP:0034337,"""An abormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw."" [PMID:29939558]"
HP:0034338,Imprinted
HP:0034339,"""A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes."" [PMID:18660847]"
HP:0034340,"""A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype."" []"
HP:0034341,"""A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype."" []"
HP:0034342,"""A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax)."" []"
HP:0034343,"""A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females."" []"
HP:0034344,"""Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex."" []"
HP:0034345,"""A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel."" []"
HP:0034346,"""An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed."" [PMID:15517495, PMID:24645840]"
HP:0034347,"""Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region."" []"
HP:0034348,"""A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve."" [PMID:34304616]"
HP:0034349,"""A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve."" [PMID:34304616]"
HP:0034350,"""A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve."" []"
HP:0034351,"""Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness."" [PMID:29554580]"
HP:0034352,"""An elevated growth from the the mucosa of the bile duct."" []"
HP:0034353,"""A type of spasticity that affects one or more limbs (arms or legs)."" []"
HP:0034354,"""Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft."" [PMID:23180925]"
HP:0034355,"""On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis."" [PMID:29089832]"
HP:0034356,"""Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption."" [ORCID:0000-0002-2234-4248]"
HP:0034357,"""Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption."" [ORCID:0000-0002-2234-4248]"
HP:0034358,"""Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption."" [ORCID:0000-0002-2234-4248]"
HP:0034359,"""Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption."" [PMID:25287933, PMID:31474092]"
HP:0034360,"""A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli."" [PMID:3080851]"
HP:0034361,"""Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen."" [PMID:8944018]"
HP:0034362,"""Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope."" []"
HP:0034363,"""Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea."" [PMID:34104871]"
HP:0034364,"""Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue."" [PMID:9691102]"
HP:0034365,"""Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation."" [PMID:17560822]"
HP:0034366,"""Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn."" [PMID:21691490]"
HP:0034367,"""Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides."" []"
HP:0034368,"""Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra."" [PMID:32644527]"
HP:0034369,"""Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue."" [PMID:16400613]"
HP:0034370,Abnormal muscle tissue metabolite concentration
HP:0034371,"""Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII."" [PMID:15461630]"
HP:0034372,Internal tibial torsion
HP:0034373,"""External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) ."" []"
HP:0034374,"""Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident."" [PMID:28744080]"
HP:0034375,"""Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical."" []"
HP:0034376,"""Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve."" []"
HP:0034377,"""Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR."" [PMID:32419552]"
HP:0034378,"""Blockage of the flow of urine from the bladder into the urethra."" []"
HP:0034379,"""Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide."" [PMID:17183453]"
HP:0034380,"""Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia."" [NCIT:C4207, PMID:17652550]"
HP:0034381,"""Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements."" [PMID:27423618, PMID:34678457]"
HP:0034382,"""A decrease in or disappearance of signs and symptoms typically associated with a disease course."" [ORCID:0000-0001-8314-2140]"
HP:0034383,"""Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation."" [PMID:19580635]"
HP:0034384,"""Increased ratio of insulin to C-peptide in the blood circulation."" [PMID:15161766]"
HP:0034385,"""A deviation from the normal range of the left ventricular endsystolic diameter."" [PMID:24451180]"
HP:0034386,"""A lower than normal left ventricular endsystolic diameter."" []"
HP:0034387,"""Encephalitis caused by bacterial infection."" [ORCID:0000-0002-6310-0434, PMID:20952256]"
HP:0034388,"""Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral)."" [ORCID:0000-0002-4095-8489]"
HP:0034389,"""Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent."" [ORCID:0000-0002-4095-8489]"
HP:0034390,"""Abnormally decreased levels of glycine in cerebrospinal fluid."" []"
HP:0034391,"""A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin."" []"
HP:0034392,"""A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part."" [PMID:22938881, PMID:26247029, PMID:30928194]"
HP:0034393,"""An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position."" []"
HP:0034394,"""A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between."" []"
HP:0034395,"""A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between."" []"
HP:0034396,"""A neuroimaging feature characterized by rounded hippocampal shape, deep collateral, or occipitotemporal sulcus, and medial localization of the hippocampus."" [PMID:33916495]"
HP:0034397,"""Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints."" [PMID:28461920]"
HP:0034398,"""Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes."" [PMID:28461920]"
HP:0034399,"""Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation."" [PMID:24752292]"
HP:0034400,"""Ringed creases of the skin of the extremities related to folding of excess skin."" [PMID:26637975]"
HP:0034401,"""An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia."" []"
HP:0034402,"""A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm."" [NCIT:C8715]"
HP:0034403,"""A form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules."" []"
HP:0034404,"""Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum."" []"
HP:0034405,"""Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem."" [PMID:23518331]"
HP:0034406,Elevated CSF angiotensin-converting enzyme concentration
HP:0034407,"""Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation."" []"
HP:0034408,"""A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage."" [PMID:8993949]"
HP:0034409,"""A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis."" [PMID:8993949]"
HP:0034410,"""A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface."" [PMID:8993949]"
HP:0034411,"""A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter."" [PMID:8993949]"
HP:0034412,"""A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography."" []"
HP:0034413,"""A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup."" []"
HP:0034414,"""Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip."" []"
HP:0034415,"""A type of dental trauma characterized by total dislocation of the tooth from its socket."" [PMID:30969698]"
HP:0034416,"""Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip."" [PMID:25426684]"
HP:0034417,"""A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx."" []"
HP:0034418,"""An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium."" [PMID:30693460]"
HP:0034419,"""Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation."" [PMID:30470812]"
HP:0034420,"""Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient."" []"
HP:0034421,"""A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds."" []"
HP:0034422,"""Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin."" [PMID:27789759]"
HP:0034423,"""Applies to a sign or symptom that is provoked or brought about by exposure to allergens."" []"
HP:0034424,"""A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers."" [PMID:34147152]"
HP:0034425,"""Abnormally low amount of sulfur in hair."" [PMID:11369901]"
HP:0034426,"""Secretion of colored sweat."" [PMID:32119282]"
HP:0034427,"""Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together."" []"
HP:0034428,"""Disproportionately large eyelids"" [PMID:4236972]"
HP:0034429,"""Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results."" []"
HP:0034430,Abnormal joint physiology
HP:0034431,"""A popping, clicking or crackling sound that accompaniees movement of a joint."" []"
HP:0034432,"""Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff."" [PMID:21396557]"
HP:0034433,"""Applies to the localization of a skin lesion that correspond to skin tension lines, which are linear clefts in the skin that indicate the direction of orientation of the underlying collagen fibers. Skin tension lines are also known as Langer's lines or lines of cleavage."" []"
HP:0034434,"""Any abnormal behavior related to communication."" [ORCID:0000-0002-4422-1708]"
HP:0034435,"""Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that are interpreted to be appropriate may follow social and situational norms."" [ORCID:0000-0002-4422-1708]"
HP:0034436,Gaze avoidance
HP:0034437,Excessive eye contact
HP:0034438,"""Inflammation of glans penis"" []"
HP:0034439,"""Applies to an abnormality that is situated in the arched middle portion of the foot in front of the ankle joint (i.e., instep)."" []"
HP:0034440,"""Applies to a skin lesion that is improved or made more bearable by exposure to ultraviolet light (sunshine or phototherapy)."" []"
HP:0034441,"""An reduced concentration of aspartic acid in the blood circulation."" []"
HP:0034442,"""Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production."" []"
HP:0034443,"""Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production."" [PMID:30725682]"
HP:0034444,"""Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues."" []"
HP:0034445,"""Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues."" []"
HP:0034446,"""Increased concentration of histamine in the blood circulation."" []"
HP:0034447,"""An increased concentration of interleukin-18 in the blood circulation."" []"
HP:0034448,"""Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration."" [PMID:21570468]"
HP:0034449,"""An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration."" [PMID:31822849]"
HP:0034450,"""A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration."" []"
HP:0034451,"""An aberrant, pathological communication between the rectum and the bladder."" []"
HP:0034452,"""An abnormal connection (fistula) between the rectum and the ureter."" []"
HP:0034453,"""Underdevelopment of the umbilicus."" []"
HP:0034454,"""Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull."" [PMID:22900137]"
HP:0034455,"""Increased concentration of taurine in the cerebrospinal fluid (CSF)."" []"
HP:0034456,"""An abnormally increased level of glutathione in the blood circulation."" []"
HP:0034457,"""Increased level of hawkinsin in the urine. Hawkinsin is a cysteine derivative that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl group."" []"
HP:0034458,"""An abnormally increased amount of phenylpyruvic acid in the urine."" []"
HP:0034459,"""Applies to a sign or symptom that is improved or made more bearable by lumbar puncture."" []"
HP:0034460,"""An increased level of uracil in the cerebrospinal fluid."" []"
HP:0034461,"""An abnormally increased amount of kynurenine in the urine."" []"
HP:0034462,"""An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF)."" []"
HP:0034463,"""An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover."" [PMID:404321]"
HP:0034464,"""An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders."" []"
HP:0034465,"""An increase in the level of 2-hydroxyadipic acid in the urine."" []"
HP:0034466,"""An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid."" []"
HP:0034467,"""An increased concentration of cysteine in the urine."" []"
HP:0034468,"""Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids."" [PMID:32149048]"
HP:0034469,"""Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency."" []"
HP:0034470,"""Elevated amount of chloride in the stool."" [PMID:2651131]"
HP:0034471,"""Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces."" []"
HP:0034472,"""Abnormally high concentration of harderoporphyrin in feces."" []"
HP:0034473,"""Abnormally high concentration of heptacarboxylporphyrin in feces."" []"
HP:0034474,"""Abnormally high concentration of pentacarboxylporphyrin in feces."" []"
HP:0034475,"""Abnormally high concentration of isocoproporphyrin in feces."" []"
HP:0034476,"""Identification of Clostridium botulinum toxin in the feces."" [PMID:16614251]"
HP:0034477,"""Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance."" [PMID:11528133]"
HP:0034478,"""Abnormal increase in diameter (expansion) of the vas deferens."" []"
HP:0034479,"""Abnormal increase in the size of the epididymis."" []"
HP:0034480,Absent epididymidis
HP:0034481,"""Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures."" [PMID:16911975]"
HP:0034482,Abnormal spinal cord physiology
HP:0034483,"""The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow."" []"
HP:0034484,"""The presence of calcium deposition in the spinal cord."" [PMID:21427441]"
HP:0034485,"""A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality."" [PMID:14672275]"
HP:0034486,"""A diminished concentration of interleukin-7 in the circulation."" []"
HP:0034487,"""An increased concentration of interleukin-12 in the blood circulation."" []"
HP:0034488,"""An increased concentration of interleukin-13 in the blood circulation."" []"
HP:0034489,"""An increased concentration of interleukin-2 in the blood circulation."" []"
HP:0034490,"""An increased concentration of interleukin-4 in the blood circulation."" []"
HP:0034491,"""An increased concentration of interleukin-5 in the blood circulation."" []"
HP:0034492,"""An inflammation of the fallopian tube."" [PMID:19017411]"
HP:0034493,"""A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease."" [PMID:28846347]"
HP:0034494,"""White appearance (radio-opaqueness) of a paranasal sinus on radiography."" [PMID:16369155]"
HP:0034495,"""An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS)."" []"
HP:0034496,"""A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS)."" []"
HP:0034497,"""An increased amount of hexanoic acid in the urine."" []"
HP:0034498,"""Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated."" [PMID:23396642]"
HP:0034499,"""An increased amount of iron in the bone marrow."" [PMID:70541]"
HP:0034500,"""A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head."" [PMID:31335046]"
HP:0034501,"""Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm."" [PMID:30969712]"
HP:0034502,"""Abnormal decrease in the width of the mediastinum."" []"
HP:0034503,"""Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary."" [PMID:32809510]"
HP:0034504,"""Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder."" [PMID:19547674]"
HP:0034505,"""Abnormal increased in the thickness of the wall of the gallbladder."" [PMID:24370153]"
HP:0034506,"""Abnormal increased in the thickness of the size of the gallbladder."" [PMID:34496644]"
HP:0034507,"""An abnormal lesion or swelling seen on gallbladder imaging."" []"
HP:0034508,"""Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints."" [PMID:32008911]"
HP:0034509,"""An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber."" [PMID:571956]"
HP:0034510,"""Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen."" []"
HP:0034511,"""Diminished activity of the enzyne aconitase in muscle tissue."" [PMID:29079705]"
HP:0034512,"""A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain."" [PMID:11394453]"
HP:0034513,"""An elevation in the concentration of interferon alpha measured in the blood circulation."" []"
HP:0034514,"""A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver."" []"
HP:0034515,"""Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ."" [PMID:26015700]"
HP:0034516,"""Applies to a sign or symptom that is improved or made more bearable by following a ketogenic diet."" []"
HP:0040004,Abnormality of corneal shape
HP:0040006,Mortality/Aging
HP:0040007,"""Lack of skin pigmentation (coloring) of the chest."" [HPO:skoehler]"
HP:0040008,Aplasia of facial bones
HP:0040009,"""Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum."" []"
HP:0040010,Small posterior fossa
HP:0040011,Flat posterior fossa
HP:0040012,"""Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents."" [HPO:probinson, PMID:12407692]"
HP:0040013,Decreased mitochondrial number
HP:0040014,Increased mitochondrial number
HP:0040015,Increased activity of mitochondrial respiratory chain
HP:0040016,Prominent coccyx
HP:0040017,Protruding coccyx
HP:0040018,Clinodactyly of hallux
HP:0040019,Finger clinodactyly
HP:0040020,Radial deviation of the 5th finger
HP:0040022,Clinodactyly of the 2nd finger
HP:0040023,Clinodactyly of the thumb
HP:0040024,Clinodactyly of the 3rd finger
HP:0040025,Clinodactyly of the 4th finger
HP:0040030,Chorioretinal hypopigmentation
HP:0040031,Chorioretinal hyperpigmentation
HP:0040032,Hypoplasia of the upper eyelids
HP:0040033,Aplasia/Hypoplasia of the fifth metatarsal bone
HP:0040034,Abnormality of the second metatarsal bone
HP:0040035,Abnormality of the fourth metatarsal bone
HP:0040036,"""Thickened fingernails."" []"
HP:0040039,Onycholysis of fingernails
HP:0040040,"""Painless and spontaneous separation of a toenail from the nail bed."" []"
HP:0040042,Aplasia of the eccrine sweat glands
HP:0040043,Hypoplasia of the eccrine sweat glands
HP:0040044,Hypoplasia of the diaphragm
HP:0040045,Abnormal hemidiaphragm morphology
HP:0040046,Abnormal left hemidiaphragm morphology
HP:0040047,Abnormal right hemidiaphragm morphology
HP:0040049,"""Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease."" [ORCID:0000-0003-0986-4123]"
HP:0040050,Sparse upper eyelashes
HP:0040051,Abnormality of upper eyelashes
HP:0040052,Abnormality of lower eyelashes
HP:0040053,Long lower eyelashes
HP:0040054,Short upper eyelashes
HP:0040055,Short lower eyelashes
HP:0040056,Absent upper eyelashes
HP:0040057,Abnormality of nasal hair
HP:0040059,Calcification of ribs
HP:0040061,Osteosclerosis of the radius
HP:0040062,Slender radius
HP:0040063,Decreased adipose tissue
HP:0040064,Abnormality of limbs
HP:0040068,Abnormality of limb bone
HP:0040069,Abnormal lower limb bone morphology
HP:0040070,Abnormal upper limb bone morphology
HP:0040071,"""Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger."" []"
HP:0040072,Abnormal forearm bone morphology
HP:0040075,Hypopituitarism
HP:0040078,Axonal degeneration
HP:0040079,Irregular dentition
HP:0040080,Anteverted ears
HP:0040081,"""Any deviation from the normal circulating creatine kinase concentration."" [https://orcid.org/0000-0001-7941-2961]"
HP:0040082,"""A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context."" [PMID:18830393]"
HP:0040084,"""A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions."" [PMID:12949225]"
HP:0040085,Abnormal circulating aldosterone
HP:0040086,Abnormal prolactin level
HP:0040087,"""Any deviation from the normal concentration of folate in the blood circulation."" []"
HP:0040088,"""Any abnormality in the total number of lymphocytes in the blood."" []"
HP:0040089,"""Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes."" [PMID:19278419]"
HP:0040090,"""An abnormality of the tympanic membrane"" []"
HP:0040091,Asymmetry of the size of ears
HP:0040092,Asymmetry of the shape of the ears
HP:0040093,Asymmetry of the position of the ears
HP:0040095,"""A tumor (abnormal growth of tissue) of the outer ear."" [HPO:probinson]"
HP:0040096,"""A tumor (abnormal growth of tissue) of the inner ear."" [HPO:probinson]"
HP:0040097,"""A tumor (abnormal growth of tissue) of the ceruminal gland."" [HPO:probinson]"
HP:0040098,Basalioma of the outer ear
HP:0040099,Abnormality of the round window
HP:0040100,Abnormality of the vestibular window
HP:0040101,Cutaneous atresia of the external auditory canal
HP:0040102,Osseous atresia of the external auditory canal
HP:0040103,Cutaneous stenosis of the external auditory canal
HP:0040104,Osseous stenosis of the external auditory canal
HP:0040106,Morphological abnormality of the lateral semicircular canal
HP:0040107,Morphological abnormality of the posterior semicircular canal
HP:0040108,Morphological abnormality of the anterior semicircular canal
HP:0040109,Morphological abnormality of the utricle
HP:0040110,Morphological abnormality of the saccule
HP:0040112,Abnormal number of tubercles
HP:0040113,Old-aged sensorineural hearing impairment
HP:0040114,Absence of the reflex of the tensor tympani muscle
HP:0040115,"""A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders."" [PMID:34383758]"
HP:0040116,Aplasia of the Eustachian tube
HP:0040117,Atresia of the Eustachian tube
HP:0040118,Stenosis of the Eustachian tube
HP:0040119,Unilateral conductive hearing impairment
HP:0040120,Abnormality of the reflex of the tensor tympani muscle
HP:0040121,"""An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation."" []"
HP:0040122,Impairment of the the acoustic reflex
HP:0040123,Impairment of the reflex of the tensor tympani muscle
HP:0040126,"""A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins."" [HPO:probinson]"
HP:0040127,"""An abnormality of the composition of sweat or the levels of its components."" []"
HP:0040128,Abnormal sweat electrolytes
HP:0040129,Abnormal nerve conduction velocity
HP:0040130,Abnormal serum iron concentration
HP:0040131,Abnormal motor nerve conduction velocity
HP:0040132,Abnormal sensory nerve conduction velocity
HP:0040133,"""A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma."" [HPO:probinson, PMID:29723227]"
HP:0040134,Abnormal hepatic iron concentration
HP:0040135,"""Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity."" [PMID:15083853]"
HP:0040137,"""A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules."" [PMID:18177407]"
HP:0040138,"""Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone."" [PMID:10606860]"
HP:0040139,"""Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions."" []"
HP:0040140,Degeneration of the striatum
HP:0040141,Tardive dyskinesia
HP:0040142,"""Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate."" [PMID:6790862]"
HP:0040143,"""Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus"" []"
HP:0040144,"""An increase in the level of L-2-hydroxyglutaric acid in the urine."" [ORCID:0000-0001-5208-3432]"
HP:0040145,Dicarboxylic acidemia
HP:0040146,D-2-hydroxyglutaric acidemia
HP:0040147,L-2-hydroxyglutaric acidemia
HP:0040148,"""Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic)."" [PMID:21339907]"
HP:0040149,"""The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter."" [PMID:20464096]"
HP:0040150,Epiblepharon of upper lid
HP:0040151,Epiblepharon of lower lid
HP:0040154,"""A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses."" [https://www.news-medical.net/health/What-is-Hidradenitis-suppurativa-(acne-inversa).aspx]"
HP:0040155,"""An increased amount of 3-hydroxybutyric acid in the urine."" []"
HP:0040156,"""An increased amount of carboxylic acid in the urine."" []"
HP:0040157,Abnormal intermamillary distance
HP:0040158,Short intermamillary distance
HP:0040159,Abnormal spaced incisors
HP:0040160,Generalized osteoporosis
HP:0040161,Localized osteoporosis
HP:0040162,"""Formation of an anuclear keratin layer"" []"
HP:0040163,Abnormal pelvis bone morphology
HP:0040164,"""Fatty tumors on the eyelids."" [ORCID:0000-0003-0986-4123]"
HP:0040165,"""Inflammation of the periosteum"" []"
HP:0040167,Facial papilloma
HP:0040169,Loose anagen hair
HP:0040170,Abnormality of hair growth
HP:0040171,Decreased serum testosterone concentration
HP:0040172,Abnormality of occipitofrontalis muscle
HP:0040173,Abnormality of the tongue muscle
HP:0040174,Abnormality of extrinsic muscle of tongue
HP:0040175,"""Reduced level of platelet-activating factor acetylhydrolase."" []"
HP:0040176,"""Any deviation from the normal concentration of a phospholipid in the blood circulation."" []"
HP:0040177,Abnormal level of platelet-activating factor
HP:0040178,Increased level of platelet-activating factor
HP:0040179,Decreased level of platelet-activating factor
HP:0040181,"""Cracking, fissuring, and peeling of the skin of the lips."" []"
HP:0040182,"""Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands."" [HPO:probinson, PMID:15763524]"
HP:0040183,Encopresis
HP:0040184,Oral bleeding
HP:0040185,Macrothrombocytopenia
HP:0040186,"""A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear."" [PMID:19398898]"
HP:0040187,"""Systemic inflammatory response to infection in newborn babies."" [PMID:4067741]"
HP:0040188,"""Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification."" []"
HP:0040189,"""Refers to the loss of the outer layer of the epidermis in large, scale-like flakes."" []"
HP:0040190,White scaling skin
HP:0040191,Rectus femoris muscle atrophy
HP:0040192,"""An endocrine tumor arising from an APUD cell."" []"
HP:0040194,"""An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart."" []"
HP:0040195,"""An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean."" [PMID:26505062]"
HP:0040196,"""Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD)."" []"
HP:0040197,"""Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury."" [PhenoTips:CHum]"
HP:0040198,Non-medullary thyroid carcinoma
HP:0040200,"""The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts."" [DOI:10.1007/978-0-387-79948-3_2046, PhenoTips:CHum]"
HP:0040201,"""A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue."" [DOI:10.1007/978-0-387-79948-3_2046, PhenoTips:CHum]"
HP:0040202,Abnormal consumption behavior
HP:0040203,"""Abnormal concentration of neopterin in the cerebrospinal fluid (CSF)."" []"
HP:0040204,"""Increased concentration of neopterin in the cerebrospinal fluid (CSF)."" []"
HP:0040205,"""Decreased concentration of neopterin in the cerebrospinal fluid (CSF)."" []"
HP:0040206,"""Any deviation from the normal concentration of neopterin in the blood circulation."" []"
HP:0040207,"""Abnormal concentration of biopterin in the cerebrospinal fluid (CSF)."" []"
HP:0040208,"""Increased concentration of biopterin in the cerebrospinal fluid (CSF)."" []"
HP:0040209,"""Decreased concentration of biopterin in the cerebrospinal fluid (CSF)."" []"
HP:0040210,"""A deviation from the normal concentration of biopterin in the blood circulation."" []"
HP:0040211,"""An abnormality of the skin of the palm, that is, the skin of the front of the hand."" []"
HP:0040212,"""Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles."" []"
HP:0040213,"""Hypopnea is referring to breathing that is abnormally shallow."" []"
HP:0040214,"""An abnormal concentration of insulin in the body."" []"
HP:0040216,"""A decreased concentration of insulin in the blood."" []"
HP:0040217,"""An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements."" [HPO:probinson, PMID:20042774]"
HP:0040218,"""Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor."" [HPO:probinson, PMID:23993353]"
HP:0040219,"""Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis."" [HPO:probinson]"
HP:0040220,Abnormal size of the dental root
HP:0040221,Hypoplasia of the dental root
HP:0040222,"""An increased tendency towards thrombosis in the mother during a pregnancy."" [HPO:probinson, PMID:25401392]"
HP:0040223,"""Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease."" [PMID:16473816]"
HP:0040224,"""Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)"" []"
HP:0040225,"""A decrease in high molecular weight von Willebrand factor multimers."" []"
HP:0040226,"""An abnormality of coagulation related to a decreased concentration of heparin co-factor II"" []"
HP:0040227,"""Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation"" []"
HP:0040228,"""A decreased level of Plasminogen"" []"
HP:0040229,"""Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot"" []"
HP:0040230,"""The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis"" []"
HP:0040231,Abnormal onset of bleeding
HP:0040232,"""Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours."" []"
HP:0040233,"""Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot."" []"
HP:0040234,"""Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot."" []"
HP:0040235,"""The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes."" []"
HP:0040236,"""Increased degradation of fibrin, associated with clot instability and bleeding"" []"
HP:0040237,"""Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay."" []"
HP:0040238,"""An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response"" []"
HP:0040239,"""Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1."" []"
HP:0040240,"""An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA."" []"
HP:0040241,"""Increased platelet agglutination in response to low-dose ristocetin"" []"
HP:0040242,"""Bleeding occuring within a muscle"" [PMID:27231694]"
HP:0040243,"""Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored."" []"
HP:0040244,"""Increased time to coagulation in the Russell's viper venom assay"" []"
HP:0040245,"""Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis."" []"
HP:0040246,"""Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation."" []"
HP:0040247,"""Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored."" []"
HP:0040248,"""Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator."" []"
HP:0040249,"""Reduced level of plasminogen activator inhibitor 1 antigen."" []"
HP:0040250,"""Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin."" []"
HP:0040251,"""A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand."" [HPO:skoehler]"
HP:0040252,Abnormal size of the clitoris
HP:0040253,Increased size of the clitoris
HP:0040254,Decreased size of the clitoris
HP:0040255,Aplasia/Hypoplasia of the clitoris
HP:0040256,"""Absence or underdevelopment of the nasopharyngeal adenoids."" []"
HP:0040257,"""A deviation in the size of nasopharyngeal adenoids."" [ORCID:0000-0001-7941-2961]"
HP:0040258,"""Underdevelopment of the nasopharyngeal adenoids."" []"
HP:0040259,"""Absence of the nasopharyngeal adenoids as a developmental defect."" [ORCID:0000-0001-5208-3432]"
HP:0040260,"""An abnormal decrease in the size of nasopharyngeal adenoids."" [ORCID:0000-0001-7941-2961]"
HP:0040261,"""An abnormal increase in the size of nasopharyngeal adenoids."" []"
HP:0040262,"""Middle ear is filled with glue-like fluid instead of air."" []"
HP:0040263,Jaw ankylosis
HP:0040264,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw."" [HPO:probinson]"
HP:0040265,"""Abnormal increase in muscle size and mass of one or both arms not due to training."" []"
HP:0040266,Proximal upper limb muscle hypertrophy
HP:0040267,Distal upper limb muscle hypertrophy
HP:0040268,"""Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections"" [ORCID:0000-0001-7941-2961]"
HP:0040269,Blocked Eustachian tube
HP:0040270,"""An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose."" [HPO:probinson]"
HP:0040272,"""A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord."" [HPO:probinson]"
HP:0040273,"""A malignant epithelial tumor with a glandular organization that originates in the intestines."" []"
HP:0040274,"""A malignant epithelial tumor with a glandular organization that originates in the small intestine."" []"
HP:0040275,"""A malignant epithelial tumor with a glandular organization that originates in the large intestine."" []"
HP:0040276,Adenocarcinoma of the colon
HP:0040277,Neoplasm of the pituitary gland
HP:0040278,"""A benign tumor (adenoma) of the pituitary gland"" []"
HP:0040279,"""Class to represent frequency of phenotypic abnormalities within a patient cohort."" []"
HP:0040280,"""Always present, i.e. in 100% of the cases."" []"
HP:0040281,"""Present in 80% to 99% of the cases."" []"
HP:0040282,"""Present in 30% to 79% of the cases."" []"
HP:0040283,"""Present in 5% to 29% of the cases."" []"
HP:0040284,"""Present in 1% to 4% of the cases."" []"
HP:0040285,"""Present in 0% of the cases."" []"
HP:0040286,"""A structural anomaly of the muscles of the trunk and head."" []"
HP:0040287,Axial muscle atrophy
HP:0040288,"""The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food."" [PMID:25874832]"
HP:0040289,"""Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia)."" [https://rarediseases.info.nih.gov/diseases/6229/cyclic-neutropenia]"
HP:0040291,Skeletal muscle steatosis
HP:0040292,Left hemiplegia
HP:0040293,Right hemiplegia
HP:0040294,Duplicated tongue
HP:0040295,Duplication of the upper lip
HP:0040296,"""Anomalous anatomical placement of the eyebrow."" []"
HP:0040297,"""Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix."" [PMID:24427573]"
HP:0040298,Hyperplasia of the endometrium
HP:0040299,Decreased circulating free fatty acid level
HP:0040300,"""Any deviation from the normal concentration of a free fatty acid in the blood circulation."" []"
HP:0040301,"""An increased concentration of glycerol in the urine."" []"
HP:0040302,"""Increased concentration of glycerol in the blood."" [PMID:23415440]"
HP:0040303,Decreased serum iron
HP:0040304,Duplication of the sella turcica
HP:0040305,"""Increased desire for sexual activity on the part of a male."" []"
HP:0040306,"""Reduced desire for sexual activity on the part of a male."" []"
HP:0040307,"""A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity"" [PMID:29532805]"
HP:0040308,"""Inability of a male to reach orgasm."" []"
HP:0040309,Increased size of the mandible
HP:0040310,"""An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures."" []"
HP:0040311,"""Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion."" [PMID:31657698]"
HP:0040312,Temporomandibular arthritis
HP:0040313,"""A type of arthritis that affects up to four joints in the first six months of disease."" [PMID:14760812]"
HP:0040314,"""The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia."" [HPO:skoehler, PMID:23730041, PMID:29768628]"
HP:0040315,"""An abnormal accumulation of fluid and swelling in the tongue."" []"
HP:0040317,"""An abnormal blue color of the urine."" []"
HP:0040318,"""An abnormal red color of the urine."" []"
HP:0040319,"""An abnormal dark color of the urine."" []"
HP:0040320,"""An abnormal red-brown color of the urine."" []"
HP:0040321,"""An abnormal dark-yellow color of the urine."" []"
HP:0040322,"""An abnormal purple color of the urine."" []"
HP:0040323,"""Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin."" []"
HP:0040324,"""In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower."" []"
HP:0040325,"""A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings."" []"
HP:0040326,"""Underdevelopment of the olfactory bulb."" [HPO:skoehler]"
HP:0040327,"""An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell."" [HPO:skoehler]"
HP:0040328,"""An abnormal area of increased brightness (hyperintensity) that is limited to one particular area."" []"
HP:0040329,"""An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas."" []"
HP:0040330,"""Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together."" [PMID:25636970]"
HP:0040331,Focal hypointensity of cerebral white matter on MRI
HP:0040332,Multifocal hypointensity of cerebral white matter on MRI
HP:0040333,Confluent hypointensity of cerebral white matter on MRI
HP:0040334,"""Chronic rhinitis accompanied by pus formation."" []"
HP:0041042,"""The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production."" [PMID:6155073]"
HP:0041043,"""An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation."" [PMID:3460353]"
HP:0041044,"""An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme."" [PMID:46759]"
HP:0041045,"""An increased number of mitochondria detected in neutrophils."" [PMID:6155073]"
HP:0041046,"""An increased number of ribosomes detected in neutrophils."" [PMID:6155073]"
HP:0041047,"""A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS)."" [PMID:16986027]"
HP:0041048,"""A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis."" [PMID:26293662]"
HP:0041049,"""An inability to digest starch."" [ORCID:0000-0002-6601-2165]"
HP:0041050,"""Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells."" [ORCID:0000-0002-0736-9199]"
HP:0041051,"""A rare condition that is characterized by a complete loss of taste function of the tongue."" [https://www.ncbi.nlm.nih.gov/books/NBK549775/]"
HP:0041052,"""A developmental defect characterized by the absence of the putamen owing to its failure to develop."" [PMID:31412107]"
HP:0041055,"""A partial or complete breakage of the humerus."" []"
HP:0041056,"""A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI)."" [PMID:25886304, PMID:29089832]"
HP:0041057,"""A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation."" []"
HP:0041058,"""A lasting decrease of immunoglobulin G4 (IgG4) in the blood."" []"
HP:0041059,"""A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured."" []"
HP:0041060,"""A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood."" []"
HP:0041061,"""A partial or complete breakage of the calcaneus."" []"
HP:0041062,"""A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation."" []"
HP:0041063,"""A lasting decrease of immunoglobulin G2 (IgG2) in the blood."" []"
HP:0041064,"""A partial or complete breakage of the knee."" []"
HP:0041065,"""A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured."" []"
HP:0041066,"""A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood."" []"
HP:0041067,"""A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation."" []"
HP:0041068,"""A lasting decrease of immunoglobulin G1 (IgG1) in the blood."" []"
HP:0041069,"""A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured."" []"
HP:0041070,"""A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood."" []"
HP:0041071,"""A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation."" []"
HP:0041072,"""A lasting decrease of immunoglobulin G3 (IgG3) in the blood."" []"
HP:0041073,"""A partial or complete breakage of the thoracic vertebra."" []"
HP:0041074,"""A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured."" []"
HP:0041075,"""A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood."" []"
HP:0041076,"""An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous."" []"
HP:0041077,"""An elevation from normal levels of immunoglobulins in body fluids, such as mucous."" []"
HP:0041078,"""An reduction from normal levels of immunoglobulins in body fluids, such as mucous."" []"
HP:0041079,"""The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males."" [http://pennshape.upenn.edu/, ORCID:0000-0002-9553-7227]"
HP:0041080,"""A deviation from the normal proportion of exhausted T cell relative to T cell in the blood."" [PMID:31570879]"
HP:0041081,"""Bone fracture anywhere in the tibia, fibula, or ankle."" [PMID:20109361]"
HP:0041082,"""A partial or complete breakage of the skull."" []"
HP:0041083,"""A partial or complete breakage of the phalanx."" []"
HP:0041084,"""A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging."" []"
HP:0041085,"""A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging."" []"
HP:0041086,"""A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging."" []"
HP:0041087,"""A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging."" []"
HP:0041088,"""A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma."" []"
HP:0041089,"""A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma."" []"
HP:0041091,"""A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma."" []"
HP:0041092,"""Heightened emotional reactivity to environmental stimuli, including emotions of others."" [PMID:23250816]"
HP:0041093,"""A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease."" [ISBN:0-07-138076-0, PMID:26475537, PMID:29593008, PMID:32900765]"
HP:0041094,"""Continuous or nearly continuous configuration of the cartilaginous tracheal ring."" [PMID:31215789]"
HP:0041095,"""Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity."" [PMID:23456797]"
HP:0041114,"""A partial or complete breakage of the metaphysis of femur."" []"
HP:0041115,"""A partial or complete breakage of the right clavicle."" []"
HP:0041116,"""A partial or complete breakage of the left clavicle."" []"
HP:0041117,"""A partial or complete breakage of the lower limb segment."" []"
HP:0041118,"""A partial or complete breakage of the upper limb segment."" []"
HP:0041119,"""A partial or complete breakage of the metacarpus skeleton."" []"
HP:0041121,"""A partial or complete breakage of the epiphysis of fifth metacarpal bone."" []"
HP:0041143,"""A partial or complete breakage of the tibia."" []"
HP:0041144,"""A partial or complete breakage of the clavicle bone."" []"
HP:0041145,"""A partial or complete breakage of the acetabular part of hip bone."" []"
HP:0041146,"""A partial or complete breakage of the coccyx."" []"
HP:0041147,"""A partial or complete breakage of the epiphysis."" []"
HP:0041149,"""A partial or complete breakage of the navicular bone of pes."" []"
HP:0041150,"""A partial or complete breakage of the cuboid bone."" []"
HP:0041152,"""A partial or complete breakage of the sternoclavicular joint."" []"
HP:0041153,"""A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot)."" [https://www.hss.edu/condition-list_ankle-fractures.asp]"
HP:0041154,"""A partial or complete breakage of the elbow joint."" []"
HP:0041155,"""A partial or complete breakage of the mandible."" []"
HP:0041156,"""A partial or complete breakage of the orbit of skull."" []"
HP:0041157,"""A partial or complete breakage of the larynx."" []"
HP:0041159,"""A partial or complete breakage of the rib."" []"
HP:0041162,"""A partial or complete breakage of the foot bone, such as the metatarsal or toe."" [PMID:30847497]"
HP:0041163,"""A partial or complete breakage of the manual digit."" []"
HP:0041164,"""A partial or complete breakage of the talus."" []"
HP:0041165,"""A partial or complete breakage of the maxilla."" []"
HP:0041166,"""A partial or complete breakage of the vertebra."" []"
HP:0041167,"""A partial or complete breakage of the cervical vertebra."" []"
HP:0041168,"""A partial or complete breakage of the lumbar vertebra."" []"
HP:0041172,"""A partial or complete breakage of the fused sacrum."" []"
HP:0041173,"""A partial or complete breakage of the metacarpophalangeal joint."" []"
HP:0041174,"""A partial or complete breakage of the distal phalanx of manus."" []"
HP:0041175,"""A partial or complete breakage of the middle phalanx of pes."" []"
HP:0041176,"""A partial or complete breakage of the distal phalanx of manual digit 2."" []"
HP:0041177,"""A partial or complete breakage of the distal phalanx of manual digit 3."" []"
HP:0041178,"""A partial or complete breakage of the distal phalanx of manual digit 4."" []"
HP:0041179,"""A partial or complete breakage of the distal phalanx of manual digit 5."" []"
HP:0041180,"""A partial or complete breakage of the distal phalanx of pedal digit 1."" []"
HP:0041181,"""A partial or complete breakage of the distal phalanx of pedal digit 3."" []"
HP:0041182,"""A partial or complete breakage of the middle phalanx of manual digit 2."" []"
HP:0041183,"""A partial or complete breakage of the middle phalanx of manual digit 3."" []"
HP:0041184,"""A partial or complete breakage of the middle phalanx of manual digit 4."" []"
HP:0041185,"""A partial or complete breakage of the middle phalanx of manual digit 5."" []"
HP:0041186,"""A partial or complete breakage of the middle phalanx of pedal digit 3."" []"
HP:0041187,"""A partial or complete breakage of the proximal phalanx of pedal digit 1."" []"
HP:0041188,"""A partial or complete breakage of the proximal phalanx of manual digit 1."" []"
HP:0041189,"""A partial or complete breakage of the epiphysis of femur."" []"
HP:0041190,"""A partial or complete breakage of the epiphysis of second metacarpal bone."" []"
HP:0041191,"""A partial or complete breakage of the epiphysis of third metacarpal bone."" []"
HP:0041192,"""A partial or complete breakage of the epiphysis of fourth metacarpal bone."" []"
HP:0041193,"""A partial or complete breakage of the epiphysis of first metatarsal bone."" []"
HP:0041194,"""A partial or complete breakage of the epiphysis of second metatarsal bone."" []"
HP:0041195,"""A partial or complete breakage of the epiphysis of third metatarsal bone."" []"
HP:0041196,"""A partial or complete breakage of the distal epiphysis of radius."" []"
HP:0041197,"""A partial or complete breakage of the proximal epiphysis of first metacarpal bone."" []"
HP:0041198,"""A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3."" []"
HP:0041199,"""A partial or complete breakage of the interphalangeal joint."" []"
HP:0041200,"""A partial or complete breakage of the sternal end of clavicle."" []"
HP:0041209,"""A partial or complete breakage of the epiphysis of middle phalanx of manus."" []"
HP:0041210,"""A partial or complete breakage of the lateral malleolus of fibula."" []"
HP:0041211,"""A partial or complete breakage of the proximal phalanx of digit 2."" []"
HP:0041212,"""A partial or complete breakage of the proximal phalanx of digit 3."" []"
HP:0041213,"""A partial or complete breakage of the proximal phalanx of digit 4."" []"
HP:0041214,"""A partial or complete breakage of the proximal phalanx of digit 5."" []"
HP:0041215,"""A partial or complete breakage of the fused metatarsal bones 2-4."" []"
HP:0041216,"""A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1."" []"
HP:0041217,"""A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint."" [https://my.clevelandclinic.org/health/diseases/17470-shoulder-fractures#\:~\:text=Trauma%20may%20cause%20a%20fracture\,of%20arthritis%20if%20left%20alone.]"
HP:0041218,"""A partial or complete breakage of the distal phalanx."" []"
HP:0041219,"""A partial or complete breakage of the elbow."" []"
HP:0041220,"""A partial or complete breakage of the facial bone."" []"
HP:0041221,"""A partial or complete breakage of the head of femur."" []"
HP:0041222,"""A partial or complete breakage of the fibula."" []"
HP:0041223,"""A partial or complete breakage of the metatarsal bone of digit 5."" []"
HP:0041224,"""A partial or complete breakage of the manual digit bone."" []"
HP:0041225,"""A partial or complete breakage of the metacarpal bone of digit 1."" []"
HP:0041226,"""A partial or complete breakage of the distal tarsal bone."" []"
HP:0041227,"""A partial or complete breakage of the distal tarsal bone 2."" []"
HP:0041228,"""A partial or complete breakage of the distal tarsal bone 3."" []"
HP:0041230,"""A partial or complete breakage of the metatarsal bone of digit 4."" []"
HP:0041231,"""A partial or complete breakage of the metatarsal bone of digit 1."" []"
HP:0041233,"""A partial or complete breakage of the ilium."" []"
HP:0041234,"""A partial or complete breakage of the bone of jaw."" []"
HP:0041235,"""A partial or complete breakage of the hindlimb bone."" []"
HP:0041236,"""A partial or complete breakage of the middle phalanx of manus."" []"
HP:0041237,"""A partial or complete breakage of the patella."" []"
HP:0041239,"""A partial or complete breakage of the manual digit 1 phalanx."" []"
HP:0041240,"""A partial or complete breakage of the phalanx of pes."" []"
HP:0041241,"""A partial or complete breakage of the phalanx of manus."" []"
HP:0041243,"""A partial or complete breakage of the proximal phalanx of manus."" []"
HP:0041244,"""A partial or complete breakage of the scapula."" []"
HP:0041245,"""A partial or complete breakage of a shoulder bone."" []"
HP:0041246,"""A partial or complete breakage of the sternum."" []"
HP:0041247,"""A partial or complete breakage of the tarsal bone."" []"
HP:0041248,"""A partial or complete breakage of the carpal bone."" []"
HP:0041249,"""A partial or complete breakage of the nose."" []"
HP:0045001,Abnormal ossification of the trapezium
HP:0045002,Absent ossification of the trapezium
HP:0045003,Abnormal ossification of the scaphoid
HP:0045004,Abnormal ossification of the trapezoid bone
HP:0045005,"""A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine."" [HPO:probinson, PMID:19808787]"
HP:0045006,"""Aplasia (absence) of the lymphatic vessels."" [ORCID:0000-0001-5208-3432]"
HP:0045007,"""A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry."" []"
HP:0045008,Abnormal shape of the radius
HP:0045010,Abnormality of peripheral nerves
HP:0045011,"""Abnormally decreased concentration of hydrogencarbonate in the urine."" []"
HP:0045012,Decreased urinary catecholamine concentration
HP:0045014,Hypolipidemia
HP:0045017,"""Defect or defects of the morphogenesis of the left heart identifiable at birth."" []"
HP:0045018,Partial duplication of eyebrows
HP:0045025,"""Reduction in the vertical distance between the upper and lower eyelids."" [HPO:probinson]"
HP:0045026,"""Any structural anomaly of the central compartment of the thoracic cavity."" []"
HP:0045027,Abnormality of the thoracic cavity
HP:0045028,"""Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements."" [PMID:8779318]"
HP:0045029,"""Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues."" [https://medlineplus.gov/ency/article/000447.htm]"
HP:0045034,"""An increased amount of 3-aminoisobutyric acid in the urine."" []"
HP:0045035,Decreased urinary copper concentration
HP:0045036,Abnormal urinary copper concentration
HP:0045037,Abnormality of jaw muscles
HP:0045038,"""Lymphoma that originates in the stomach itself."" []"
HP:0045039,Osteolysis involving bones of the upper limbs
HP:0045040,"""A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate."" [PMID:25984930]"
HP:0045041,"""A decreased or reduced level of the enzyme lactate dehydrogenase in serum."" []"
HP:0045042,"""A reduced level of the complement component C4 in the circulation."" [https://emedicine.medscape.com/article/135478-overview]"
HP:0045043,"""A reduced level of the complement component C4a in circulation."" [https://emedicine.medscape.com/article/135478-overview]"
HP:0045044,"""A reduced level of the complement component C4b in circulation."" [https://emedicine.medscape.com/article/135478-overview]"
HP:0045045,"""An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine."" []"
HP:0045046,"""An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation."" []"
HP:0045047,"""Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography."" [HPO:probinson, PMID:34406727, PMID:3953566]"
HP:0045048,"""An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia."" [HPO:probinson, PMID:26372049]"
HP:0045049,"""An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs."" [PMID:32310609]"
HP:0045050,"""Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test."" [PMID:32310609]"
HP:0045051,"""Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test."" [PMID:32310609]"
HP:0045052,"""Any abnormality of the brachial nerve plexus."" []"
HP:0045053,"""Any abnormality of the lumbosacral nerve plexus."" []"
HP:0045054,Brachial plexus neuropathy
HP:0045055,"""An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding."" [PMID:15692466]"
HP:0045056,Abnormal levels of alpha-fetoprotein
HP:0045057,"""A decrease in the concentration of alpha-fetoprotein in the blood circulation."" []"
HP:0045058,"""An anomaly of the size of the testicle (the male gonad)."" []"
HP:0045059,"""A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically)."" [PMID:3632007]"
HP:0045060,Aplasia/hypoplasia involving bones of the extremities
HP:0045061,Decreased carnitine level in liver
HP:0045063,"""Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells."" [HPO:pnrobinson, PMID:12717392]"
HP:0045073,"""Inflammation in any serous cavity."" [HPO:skoehler]"
HP:0045074,"""Decreased diameter of eyebrow hairs."" []"
HP:0045075,"""Decreased density/number of eyebrow hairs."" [HPO:skoehler, PMID:19125427]"
HP:0045079,"""Irregularity of the normally smooth surface of the distal metaphysis of the femur."" []"
HP:0045080,"""Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells."" []"
HP:0045081,"""Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages."" []"
HP:0045082,"""Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages."" []"
HP:0045084,Limb myoclonus
HP:0045085,Atrophy of masseter muscle
HP:0045086,"""The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees)."" [PMID:28599980, sanford:krageth]"
HP:0045087,Hip joint hypermobility
HP:0045088,"""Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis."" []"
HP:0045089,"""In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential."" []"
HP:0045090,"""In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential."" []"
HP:0046502,"""Inability of individual to reach orgasm."" []"
HP:0046503,"""Elevated sexual desire."" []"
HP:0046504,"""Decreased sexual desire."" []"
HP:0046505,"""An unpleasant sensation characterized by physical discomfort localized to the hand."" []"
HP:0046506,Pain in head and neck region
HP:0046507,"""Bradypnea is referring to breathing that is abnormally slow."" []"
HP:0046508,"""Any morphological abnormality of the cervical vertebral column."" []"
HP:0100000,"""An early onset of puberty, in this case early does not refer to precocious."" [HPO:probinson]"
HP:0100001,"""Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer."" [HPO:sdoelken]"
HP:0100002,"""A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma."" [HPO:sdoelken]"
HP:0100003,"""A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma."" [HPO:sdoelken]"
HP:0100004,"""A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart)."" [HPO:sdoelken]"
HP:0100005,"""A Malignant mesothelioma of the testis."" [HPO:probinson]"
HP:0100006,"""A neoplasm of the central nervous system."" [HPO:probinson]"
HP:0100007,"""A benign or malignant neoplasm (tumour) of the peripheral nervous system."" [HPO:probinson]"
HP:0100008,"""A benign nerve sheath tumor composed of Schwann cells."" [HPO:sdoelken]"
HP:0100009,Intracranial meningioma
HP:0100010,Spinal meningioma
HP:0100011,Scleral schwannoma
HP:0100012,"""A tumor (abnormal growth of tissue) of the eye."" [HPO:probinson]"
HP:0100013,"""A tumor (abnormal growth of tissue) of the breast."" [HPO:probinson]"
HP:0100014,"""An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy."" [HPO:sdoelken]"
HP:0100015,"""The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix."" [HPO:sdoelken]"
HP:0100016,"""Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium)."" [HPO:sdoelken]"
HP:0100017,"""A cataract that affects the capsule of the lens."" [HPO:probinson]"
HP:0100018,"""A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown."" [HPO:sdoelken]"
HP:0100019,"""A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance."" [HPO:sdoelken]"
HP:0100020,"""A cataract which is found in the back outer layer of the lens. This type often develops more rapidly."" [HPO:sdoelken]"
HP:0100021,"""Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems."" [HPO:sdoelken]"
HP:0100022,"""An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements."" [HPO:probinson]"
HP:0100023,"""A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down."" [HPO:probinson]"
HP:0100024,"""An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger."" [HPO:sdoelken]"
HP:0100025,"""A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction."" [HPO:sdoelken]"
HP:0100026,"""An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries."" [HPO:probinson]"
HP:0100027,"""A recurrent form of pancreatitis."" [HPO:probinson]"
HP:0100028,"""Mislocalised thyroid gland."" [HPO:sdoelken]"
HP:0100029,"""An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend."" [HPO:sdoelken]"
HP:0100030,"""Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract."" [HPO:sdoelken]"
HP:0100031,"""A tumor (abnormal growth of tissue) of the thyroid gland."" [HPO:probinson]"
HP:0100033,"""Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement."" [HPO:sdoelken, PMID:20589866]"
HP:0100034,"""Movement-based tics affecting discrete muscle groups."" [HPO:sdoelken]"
HP:0100035,"""Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound."" [HPO:sdoelken]"
HP:0100036,"""A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture."" [HPO:sdoelken]"
HP:0100037,"""An abnormality of the hair of head."" [HPO:probinson]"
HP:0100038,"""Scalp hair whose growth is slower than normal."" [DDD:cmoss]"
HP:0100039,"""An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones."" [HPO:sdoelken]"
HP:0100040,"""A broad appearance of the second toe."" [HPO:sdoelken]"
HP:0100041,"""A broad appearance of the third toe."" [HPO:sdoelken]"
HP:0100042,"""A broad appearance of the fourth toe."" [HPO:sdoelken]"
HP:0100043,"""A broad appearance of the fifth toe."" [HPO:sdoelken]"
HP:0100044,Absent epiphyses of the 2nd toe
HP:0100045,Bracket epiphyses of the 2nd toe
HP:0100046,Cone-shaped epiphyses of the 2nd toe
HP:0100047,Enlarged epiphyses of the 2nd toe
HP:0100048,Fragmentation of the epiphyses of the 2nd toe
HP:0100049,Irregular epiphyses of the 2nd toe
HP:0100050,"""Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."" [HPO:probinson]"
HP:0100051,Pseudoepiphyses of the 2nd toe
HP:0100052,Small epiphyses of the 2nd toe
HP:0100053,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe."" [HPO:curators]"
HP:0100054,Triangular epiphyses of the 2nd toe
HP:0100055,Absent epiphyses of the 3rd toe
HP:0100056,Bracket epiphyses of the 3rd toe
HP:0100057,Cone-shaped epiphyses of the 3rd toe
HP:0100058,Enlarged epiphyses of the 3rd toe
HP:0100059,Fragmentation of the epiphyses of the 3rd toe
HP:0100060,Irregular epiphyses of the 3rd toe
HP:0100061,"""Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."" [HPO:probinson]"
HP:0100062,Pseudoepiphyses of the 3rd toe
HP:0100063,Small epiphyses of the 3rd toe
HP:0100064,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe."" [HPO:curators]"
HP:0100065,Triangular epiphyses of the 3rd toe
HP:0100066,Absent epiphyses of the 4th toe
HP:0100067,Bracket epiphyses of the 4th toe
HP:0100068,Cone-shaped epiphyses of the 4th toe
HP:0100069,Enlarged epiphyses of the 4th toe
HP:0100070,Fragmentation of the epiphyses of the 4th toe
HP:0100071,Irregular epiphyses of the 4th toe
HP:0100072,"""Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."" [HPO:probinson]"
HP:0100073,Pseudoepiphyses of the 4th toe
HP:0100074,Small epiphyses of the 4th toe
HP:0100075,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe."" [HPO:curators]"
HP:0100076,Triangular epiphyses of the 4th toe
HP:0100077,Absent epiphyses of the 5th toe
HP:0100078,Bracket epiphyses of the 5th toe
HP:0100079,Cone-shaped epiphyses of the 5th toe
HP:0100080,Enlarged epiphyses of the 5th toe
HP:0100081,Fragmentation of the epiphyses of the 5th toe
HP:0100082,Irregular epiphyses of the 5th toe
HP:0100083,"""Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."" [HPO:probinson]"
HP:0100084,Pseudoepiphyses of the 5th toe
HP:0100085,Small epiphyses of the 5th toe
HP:0100086,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe."" [HPO:curators]"
HP:0100087,Triangular epiphyses of the 5th toe
HP:0100088,Abnormality of the epiphysis of the distal phalanx of the 2nd toe
HP:0100089,Abnormality of the epiphysis of the middle phalanx of the 2nd toe
HP:0100090,Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
HP:0100091,Abnormality of the epiphysis of the distal phalanx of the 3rd toe
HP:0100092,Abnormality of the epiphysis of the middle phalanx of the 3rd toe
HP:0100093,Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
HP:0100094,Abnormality of the epiphysis of the distal phalanx of the 4th toe
HP:0100095,Abnormality of the epiphysis of the middle phalanx of the 4th toe
HP:0100096,Abnormality of the epiphysis of the proximal phalanx of the 4th toe
HP:0100097,Abnormality of the epiphysis of the distal phalanx of the 5th toe
HP:0100098,Abnormality of the epiphysis of the middle phalanx of the 5th toe
HP:0100099,Abnormality of the epiphysis of the proximal phalanx of the 5th toe
HP:0100100,Absent epiphysis of the distal phalanx of the 2nd toe
HP:0100101,Bracket epiphysis of the distal phalanx of the 2nd toe
HP:0100102,Cone-shaped epiphysis of the distal phalanx of the 2nd toe
HP:0100103,Enlarged epiphysis of the distal phalanx of the 2nd toe
HP:0100104,Fragmentation of the epiphysis of the distal phalanx of the 2nd toe
HP:0100105,Irregular epiphysis of the distal phalanx of the 2nd toe
HP:0100106,Ivory epiphysis of the distal phalanx of the 2nd toe
HP:0100107,Pseudoepiphysis of the distal phalanx of the 2nd toe
HP:0100108,Small epiphysis of the distal phalanx of the 2nd toe
HP:0100109,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe."" [HPO:curators]"
HP:0100110,Triangular epiphysis of the distal phalanx of the 2nd toe
HP:0100111,Absent epiphysis of the middle phalanx of the 2nd toe
HP:0100112,Bracket epiphysis of the middle phalanx of the 2nd toe
HP:0100113,Cone-shaped epiphysis of the middle phalanx of the 2nd toe
HP:0100114,Enlarged epiphysis of the middle phalanx of the 2nd toe
HP:0100115,Fragmentation of the epiphysis of the middle phalanx of the 2nd toe
HP:0100116,Irregular epiphysis of the middle phalanx of the 2nd toe
HP:0100117,Ivory epiphysis of the middle phalanx of the 2nd toe
HP:0100118,"""A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe."" []"
HP:0100119,Small epiphysis of the middle phalanx of the 2nd toe
HP:0100120,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe."" [HPO:curators]"
HP:0100121,Triangular epiphysis of the middle phalanx of the 2nd toe
HP:0100122,Absent epiphysis of the proximal phalanx of the 2nd toe
HP:0100123,Bracket epiphysis of the proximal phalanx of the 2nd toe
HP:0100124,Cone-shaped epiphysis of the proximal phalanx of the 2nd toe
HP:0100125,Enlarged epiphysis of the proximal phalanx of the 2nd toe
HP:0100126,Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe
HP:0100127,Irregular epiphysis of the proximal phalanx of the 2nd toe
HP:0100128,Ivory epiphysis of the proximal phalanx of the 2nd toe
HP:0100129,"""A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe."" []"
HP:0100130,Small epiphysis of the proximal phalanx of the 2nd toe
HP:0100131,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe."" [HPO:curators]"
HP:0100132,Triangular epiphysis of the proximal phalanx of the 2nd toe
HP:0100133,"""Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty."" [HPO:sdoelken]"
HP:0100134,"""Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty."" [HPO:sdoelken]"
HP:0100135,Absent epiphysis of the distal phalanx of the 3rd toe
HP:0100136,Bracket epiphysis of the distal phalanx of the 3rd toe
HP:0100137,Cone-shaped epiphysis of the distal phalanx of the 3rd toe
HP:0100138,Enlarged epiphysis of the distal phalanx of the 3rd toe
HP:0100139,Fragmentation of the epiphysis of the distal phalanx of the 3rd toe
HP:0100140,Irregular epiphysis of the distal phalanx of the 3rd toe
HP:0100141,Ivory epiphysis of the distal phalanx of the 3rd toe
HP:0100142,Pseudoepiphysis of the distal phalanx of the 3rd toe
HP:0100143,Small epiphysis of the distal phalanx of the 3rd toe
HP:0100144,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe."" [HPO:curators]"
HP:0100145,Triangular epiphysis of the distal phalanx of the 3rd toe
HP:0100146,Absent epiphysis of the middle phalanx of the 3rd toe
HP:0100147,Bracket epiphysis of the middle phalanx of the 3rd toe
HP:0100148,Cone-shaped epiphysis of the middle phalanx of the 3rd toe
HP:0100149,Enlarged epiphysis of the middle phalanx of the 3rd toe
HP:0100150,Fragmentation of the epiphysis of the middle phalanx of the 3rd toe
HP:0100151,Irregular epiphysis of the middle phalanx of the 3rd toe
HP:0100152,Ivory epiphysis of the middle phalanx of the 3rd toe
HP:0100153,Pseudoepiphysis of the middle phalanx of the 3rd toe
HP:0100154,Small epiphysis of the middle phalanx of the 3rd toe
HP:0100155,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe."" [HPO:curators]"
HP:0100156,Triangular epiphysis of the middle phalanx of the 3rd toe
HP:0100157,Absent epiphysis of the proximal phalanx of the 3rd toe
HP:0100158,Bracket epiphysis of the proximal phalanx of the 3rd toe
HP:0100159,Cone-shaped epiphysis of the proximal phalanx of the 3rd toe
HP:0100160,Enlarged epiphysis of the proximal phalanx of the 3rd toe
HP:0100161,Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe
HP:0100162,Irregular epiphysis of the proximal phalanx of the 3rd toe
HP:0100163,Ivory epiphysis of the proximal phalanx of the 3rd toe
HP:0100164,"""A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe."" []"
HP:0100165,Small epiphysis of the proximal phalanx of the 3rd toe
HP:0100166,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe."" [HPO:curators]"
HP:0100167,Triangular epiphysis of the proximal phalanx of the 3rd toe
HP:0100168,"""Fragmented appearance of the epiphyses."" [HPO:sdoelken]"
HP:0100169,Absent epiphysis of the distal phalanx of the 4th toe
HP:0100170,Bracket epiphysis of the distal phalanx of the 4th toe
HP:0100171,Cone-shaped epiphysis of the distal phalanx of the 4th toe
HP:0100172,Enlarged epiphysis of the distal phalanx of the 4th toe
HP:0100173,Fragmentation of the epiphysis of the distal phalanx of the 4th toe
HP:0100174,Irregular epiphysis of the distal phalanx of the 4th toe
HP:0100175,Ivory epiphysis of the distal phalanx of the 4th toe
HP:0100176,Pseudoepiphysis of the distal phalanx of the 4th toe
HP:0100177,Small epiphysis of the distal phalanx of the 4th toe
HP:0100178,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe."" [HPO:curators]"
HP:0100179,Triangular epiphysis of the distal phalanx of the 4th toe
HP:0100180,Absent epiphysis of the middle phalanx of the 4th toe
HP:0100181,Bracket epiphysis of the middle phalanx of the 4th toe
HP:0100182,Cone-shaped epiphysis of the middle phalanx of the 4th toe
HP:0100183,Enlarged epiphysis of the middle phalanx of the 4th toe
HP:0100184,Fragmentation of the epiphysis of the middle phalanx of the 4th toe
HP:0100185,Irregular epiphysis of the middle phalanx of the 4th toe
HP:0100186,Ivory epiphysis of the middle phalanx of the 4th toe
HP:0100187,"""A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe."" []"
HP:0100188,Small epiphysis of the middle phalanx of the 4th toe
HP:0100189,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe."" [HPO:curators]"
HP:0100190,Triangular epiphysis of the middle phalanx of the 4th toe
HP:0100191,Absent epiphysis of the proximal phalanx of the 4th toe
HP:0100192,Bracket epiphysis of the proximal phalanx of the 4th toe
HP:0100193,Cone-shaped epiphysis of the proximal phalanx of the 4th toe
HP:0100194,Enlarged epiphysis of the proximal phalanx of the 4th toe
HP:0100195,Fragmentation of the epiphysis of the proximal phalanx of the 4th toe
HP:0100196,Irregular epiphysis of the proximal phalanx of the 4th toe
HP:0100197,Ivory epiphysis of the proximal phalanx of the 4th toe
HP:0100198,"""A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe."" []"
HP:0100199,Small epiphysis of the proximal phalanx of the 4th toe
HP:0100200,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe."" [HPO:curators]"
HP:0100201,Triangular epiphysis of the proximal phalanx of the 4th toe
HP:0100202,Absent epiphysis of the distal phalanx of the 5th toe
HP:0100203,Bracket epiphysis of the distal phalanx of the 5th toe
HP:0100204,Cone-shaped epiphysis of the distal phalanx of the 5th toe
HP:0100205,Enlarged epiphysis of the distal phalanx of the 5th toe
HP:0100206,Fragmentation of the epiphysis of the distal phalanx of the 5th toe
HP:0100207,Irregular epiphysis of the distal phalanx of the 5th toe
HP:0100208,Ivory epiphysis of the distal phalanx of the 5th toe
HP:0100209,Pseudoepiphysis of the distal phalanx of the 5th toe
HP:0100210,Small epiphysis of the distal phalanx of the 5th toe
HP:0100211,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe."" [HPO:curators]"
HP:0100212,Triangular epiphysis of the distal phalanx of the 5th toe
HP:0100213,Absent epiphysis of the middle phalanx of the 5th toe
HP:0100214,Bracket epiphysis of the middle phalanx of the 5th toe
HP:0100215,Cone-shaped epiphysis of the middle phalanx of the 5th toe
HP:0100216,Enlarged epiphysis of the middle phalanx of the 5th toe
HP:0100217,Fragmentation of the epiphysis of the middle phalanx of the 5th toe
HP:0100218,Irregular epiphysis of the middle phalanx of the 5th toe
HP:0100219,Ivory epiphysis of the middle phalanx of the 5th toe
HP:0100220,"""A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe."" []"
HP:0100221,Small epiphysis of the middle phalanx of the 5th toe
HP:0100222,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe."" [HPO:curators]"
HP:0100223,Triangular epiphysis of the middle phalanx of the 5th toe
HP:0100224,Absent epiphysis of the proximal phalanx of the 5th toe
HP:0100225,Bracket epiphysis of the proximal phalanx of the 5th toe
HP:0100226,Cone-shaped epiphysis of the proximal phalanx of the 5th toe
HP:0100227,Enlarged epiphysis of the proximal phalanx of the 5th toe
HP:0100228,Fragmentation of the epiphysis of the proximal phalanx of the 5th toe
HP:0100229,Irregular epiphysis of the proximal phalanx of the 5th toe
HP:0100230,Ivory epiphysis of the proximal phalanx of the 5th toe
HP:0100231,"""A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe."" []"
HP:0100232,Small epiphysis of the proximal phalanx of the 5th toe
HP:0100233,"""The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe."" [HPO:curators]"
HP:0100234,Triangular epiphysis of the proximal phalanx of the 5th toe
HP:0100235,Synostosis involving bones of the toes
HP:0100237,Proximal foot symphalangism
HP:0100238,"""An abnormal union between bones or parts of bones of the upper limbs."" [HPO:sdoelken]"
HP:0100240,"""The abnormal fusion of neighboring bones across a joint."" [HPO:probinson]"
HP:0100241,"""Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations."" [HPO:sdoelken]"
HP:0100242,"""A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant."" [HPO:sdoelken]"
HP:0100243,"""A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma."" [HPO:sdoelken]"
HP:0100244,"""A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells."" [HPO:sdoelken]"
HP:0100245,"""Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine."" [HPO:sdoelken]"
HP:0100246,"""Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant."" [HPO:sdoelken]"
HP:0100247,"""A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc."" [HPO:sdoelken]"
HP:0100248,"""Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements."" [HPO:sdoelken]"
HP:0100249,"""Deposition of calcium salts in muscle tissue."" [HPO:probinson]"
HP:0100250,"""Calcium deposition affecting the Meninges."" [HPO:sdoelken]"
HP:0100251,"""The presence of mulitple lipomas located in the central nervous system."" [PMID:26942290]"
HP:0100252,Diaphyseal dysplasia
HP:0100253,"""An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored."" [HPO:sdoelken]"
HP:0100254,Stenosis of the medullary cavity of the long bones
HP:0100255,"""The presence of dysplastic regions in metaphyseal regions."" [HPO:sdoelken]"
HP:0100256,"""Senile plaques are extracellular deposits of amyloid in the gray matter of the brain."" [HPO:sdoelken]"
HP:0100257,"""A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet."" [HPO:sdoelken]"
HP:0100258,"""A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe."" [HPO:probinson]"
HP:0100259,"""A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe."" [HPO:probinson]"
HP:0100260,"""The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly."" [PMID:19125433]"
HP:0100261,"""An abnormality of the structure or form of the tendons, also often called sinews."" [HPO:sdoelken]"
HP:0100262,Synostosis involving digits
HP:0100263,Distal symphalangism
HP:0100264,Proximal symphalangism
HP:0100265,Synostosis of metacarpals/metatarsals
HP:0100266,"""The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus."" [HPO:sdoelken]"
HP:0100267,"""A depression located on a lip."" [HPO:probinson]"
HP:0100268,"""Depression located on the vermilion of the upper lip, usually paramedian."" [HPO:sdoelken]"
HP:0100269,"""Depression located paramedially on the vermilion of a lip."" [HPO:sdoelken]"
HP:0100270,"""An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs."" [HPO:sdoelken]"
HP:0100271,"""Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion."" [HPO:sdoelken]"
HP:0100272,"""A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal."" [HPO:sdoelken]"
HP:0100273,Neoplasm of the colon
HP:0100274,"""Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal."" [HPO:sdoelken]"
HP:0100275,"""Diffuse unlocalised atrophy affecting the cerebellum."" [HPO:sdoelken]"
HP:0100276,"""A small, skin-lined tract that leads from the surface to deep within the tissues."" []"
HP:0100277,"""Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit."" [HPO:sdoelken]"
HP:0100279,"""A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon."" [HPO:sdoelken]"
HP:0100280,"""A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation."" [HPO:sdoelken]"
HP:0100281,"""A chronic inflammatory disease of the large intestine (colon, cecum and rectum)."" [HPO:sdoelken]"
HP:0100282,"""An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum)."" [HPO:sdoelken]"
HP:0100283,"""Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles."" [HPO:probinson]"
HP:0100284,"""High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound."" [HPO:probinson]"
HP:0100285,"""An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP)."" [HPO:probinson]"
HP:0100287,"""The presence of reduced conduction velocity of motor nerves on electromyography."" [HPO:probinson]"
HP:0100288,"""The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding."" [HPO:probinson]"
HP:0100289,Abnormality of pattern reversal visual evoked potentials
HP:0100290,Abnormality of peripheral somatosensory evoked potentials
HP:0100291,Abnormality of central somatosensory evoked potentials
HP:0100292,"""The presence of amyloid deposition in the nerves of the peripheral nervous system."" [HPO:probinson]"
HP:0100293,"""The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies."" []"
HP:0100295,Muscle fiber atrophy
HP:0100296,Perifascicular muscle fiber atrophy
HP:0100297,"""An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium."" [PMID:32508678]"
HP:0100298,Motheaten muscle fibers
HP:0100299,Muscle fiber inclusion bodies
HP:0100300,Desmin bodies
HP:0100301,"""Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities."" [HPO:sdoelken, PMID:15113116]"
HP:0100302,Muscle fiber tubuloreticular inclusions
HP:0100303,"""The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins."" [HPO:probinson]"
HP:0100304,"""The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins."" [HPO:probinson]"
HP:0100305,"""Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation."" [HPO:sdoelken]"
HP:0100306,Muscle fiber hyaline bodies
HP:0100307,Cerebellar hemisphere hypoplasia
HP:0100308,"""Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle."" [HPO:probinson]"
HP:0100309,"""Hemorrhage occurring between the dura mater and the arachnoid mater."" [HPO:sdoelken]"
HP:0100310,"""Hemorrhage occurring between the dura mater and the skull."" [HPO:sdoelken]"
HP:0100311,"""Bands of scar-like tisssue that hve formed within a cerebral ventricle."" []"
HP:0100312,"""The presence of a germ cell tumor of the cerebrum."" [HPO:probinson]"
HP:0100313,"""Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells."" [HPO:probinson, PMID:937513]"
HP:0100314,"""Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain."" [HPO:probinson]"
HP:0100315,Lewy bodies
HP:0100316,"""Intracellular aggregates of actin and actin-associated proteins within nerve cells."" [HPO:probinson]"
HP:0100317,"""Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue."" [HPO:sdoelken]"
HP:0100318,"""An intraneuronal inclusion body composed of acid mucopolysaccharides."" [HPO:sdoelken]"
HP:0100319,"""Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance."" [HPO:sdoelken]"
HP:0100320,"""Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders."" [HPO:sdoelken]"
HP:0100321,"""An abnormality of the dentate nucleus."" [HPO:probinson]"
HP:0100322,Aplasia of the pyramidal tract
HP:0100323,"""Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers."" [HPO:sdoelken]"
HP:0100324,"""A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin."" [HPO:sdoelken]"
HP:0100326,"""Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens."" [https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf]"
HP:0100327,"""Hypersensitivity in form of an adverse immune reaction against cow milk protein."" [HPO:sdoelken]"
HP:0100328,"""Fusion involving carpal and metacarpal bones."" [HPO:probinson]"
HP:0100329,Tarsometatarsal synostosis
HP:0100333,"""A non-midline cleft of the upper lip on one side only."" [HPO:probinson]"
HP:0100334,Unilateral cleft palate
HP:0100335,"""Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region."" [HPO:probinson]"
HP:0100336,"""A non-midline cleft of the upper lip on the left and right sides."" [HPO:probinson]"
HP:0100337,"""Nonmidline cleft palate on the left and right sides."" [HPO:probinson]"
HP:0100338,Non-midline cleft palate
HP:0100339,Abnormality of the os naviculare pedis
HP:0100340,Fibular deviation of the 4th toe
HP:0100341,Tibial deviation of the 4th toe
HP:0100342,Fibular deviation of the 3rd toe
HP:0100343,Tibial deviation of the 3rd toe
HP:0100344,Fibular deviation of the 2nd toe
HP:0100345,Tibial deviation of the 2nd toe
HP:0100346,Fibular deviation of the 5th toe
HP:0100347,Tibial deviation of the 5th toe
HP:0100348,"""The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100349,"""The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively."" [UToronto:htrang]"
HP:0100350,"""The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100351,"""The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100352,"""The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100353,"""The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100354,"""The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100355,"""The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100356,"""The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100357,"""The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100358,"""The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100359,"""The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively."" [HPO:probinson]"
HP:0100360,"""A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin."" []"
HP:0100362,Aplasia of the phalanges of the 3rd toe
HP:0100363,Aplasia of the phalanges of the 4th toe
HP:0100364,Aplasia of the phalanges of the 5th toe
HP:0100366,"""Developmental hypoplasia of the phalanx of third toe."" [HPO:sdoelken]"
HP:0100367,"""Developmental hypoplasia of one or more phalanx of fourth toe."" [HPO:probinson]"
HP:0100368,"""Developmental hypoplasia of one or more phalanx of little toe."" [HPO:probinson]"
HP:0100369,Aplasia/Hypoplasia of the distal phalanx of the 3rd toe
HP:0100370,Aplasia/Hypoplasia of the distal phalanx of the 4th toe
HP:0100371,Aplasia/Hypoplasia of the distal phalanx of the 5th toe
HP:0100372,Aplasia/Hypoplasia of the middle phalanx of the 3rd toe
HP:0100373,Aplasia/Hypoplasia of the middle phalanx of the 4th toe
HP:0100374,Aplasia/Hypoplasia of the middle phalanx of the 5th toe
HP:0100375,"""Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe."" [HPO:probinson]"
HP:0100376,"""Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe."" [HPO:probinson]"
HP:0100377,"""Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe."" [HPO:probinson]"
HP:0100378,"""Developmental aplasia of the distal phalanx of third toe."" [HPO:sdoelken]"
HP:0100379,Aplasia of the distal phalanx of the 4th toe
HP:0100380,Aplasia of the distal phalanx of the 5th toe
HP:0100381,"""Developmental aplasia of the middle phalanx of third toe."" [HPO:sdoelken]"
HP:0100382,Aplasia of the middle phalanx of the 4th toe
HP:0100383,Aplasia of the middle phalanx of the 5th toe
HP:0100384,"""Absence of proximal phalanx of third toe, owing to a congenital defect of development."" [HPO:probinson]"
HP:0100385,Aplasia of the proximal phalanx of the 4th toe
HP:0100386,Aplasia of the proximal phalanx of the 5th toe
HP:0100387,Aplasia of the middle phalanges of the toes
HP:0100388,Aplasia of the proximal phalanges of the toes
HP:0100389,"""Developmental hypoplasia of the distal phalanx of third toe."" [HPO:probinson]"
HP:0100390,"""Developmental hypoplasia of the distal phalanx of fourth toe."" [HPO:sdoelken]"
HP:0100391,"""Developmental hypoplasia of the distal phalanx of little toe."" [HPO:sdoelken]"
HP:0100392,"""Developmental hypoplasia of the middle phalanx of third toe."" [HPO:sdoelken]"
HP:0100393,"""Developmental hypoplasia of the middle phalanx of fourth toe."" [HPO:sdoelken]"
HP:0100394,"""Developmental hypoplasia of the middle phalanx of the 5th toe."" [HPO:probinson]"
HP:0100395,"""Abnormal reduction in length of proximal phalanx of third toe."" [HPO:probinson]"
HP:0100396,"""Developmental hypoplasia of the proximal phalanx of fourth toe."" [HPO:probinson]"
HP:0100397,"""Developmental hypoplasia of the proximal phalanx of fifth toe."" [HPO:probinson]"
HP:0100398,"""Partial or complete duplication of distal phalanx of third toe."" [HPO:probinson]"
HP:0100399,"""Partial or complete duplication of the distal phalanx of fourth toe."" [HPO:sdoelken]"
HP:0100400,"""Partial or complete duplication of the distal phalanx of little toe."" [HPO:sdoelken]"
HP:0100401,"""Partial or complete duplication of middle phalanx of third toe."" [HPO:sdoelken]"
HP:0100402,"""Partial or complete duplication of middle phalanx of fourth toe."" [HPO:sdoelken]"
HP:0100403,"""Partial or complete duplication of the middle phalanx of the 5th toe."" [HPO:probinson]"
HP:0100404,"""Partial or complete duplication of proximal phalanx of third toe."" [HPO:sdoelken]"
HP:0100405,"""Partial or complete duplication of the proximal phalanx of fourth toe."" [HPO:sdoelken]"
HP:0100406,"""Partial or complete duplication of the proximal phalanx of fifth toe."" [HPO:probinson]"
HP:0100407,"""Complete duplication of distal phalanx of third toe."" [HPO:sdoelken]"
HP:0100408,"""Complete duplication of the distal phalanx of fourth toe."" [HPO:sdoelken]"
HP:0100409,"""Complete duplication of the distal phalanx of little toe."" [HPO:sdoelken]"
HP:0100410,"""Complete duplication of middle phalanx of third toe."" [HPO:sdoelken]"
HP:0100411,"""Complete duplication of middle phalanx of fourth toe."" [HPO:sdoelken]"
HP:0100412,"""Complete duplication of the middle phalanx of the 5th toe."" [HPO:probinson]"
HP:0100413,"""Complete duplication of proximal phalanx of third toe."" [HPO:sdoelken]"
HP:0100414,Complete duplication of the proximal phalanx of the 4th toe
HP:0100415,"""Complete duplication of the proximal phalanx of fifth toe."" [HPO:sdoelken]"
HP:0100416,"""Partial duplication of distal phalanx of third toe."" [HPO:sdoelken]"
HP:0100417,"""Partial duplication of the distal phalanx of fourth toe."" [HPO:sdoelken]"
HP:0100418,"""Partial duplication of the distal phalanx of little toe."" [HPO:sdoelken]"
HP:0100419,"""Partial duplication of middle phalanx of third toe."" [HPO:probinson]"
HP:0100420,"""Partial duplication of middle phalanx of fourth toe."" [HPO:sdoelken]"
HP:0100421,"""Partial duplication of the middle phalanx of the 5th toe."" [HPO:probinson]"
HP:0100422,"""Partial duplication of proximal phalanx of third toe."" [HPO:probinson]"
HP:0100423,Partial duplication of the proximal phalanx of the 4th toe
HP:0100424,"""Partial duplication of the proximal phalanx of fifth toe."" [HPO:sdoelken]"
HP:0100425,Broad middle phalanx of the 3rd toe
HP:0100426,Broad middle phalanx of the 4th toe
HP:0100427,Broad middle phalanx of the 5th toe
HP:0100428,Broad proximal phalanx of the 3rd toe
HP:0100429,Broad proximal phalanx of the 4th toe
HP:0100430,Broad proximal phalanx of the 5th toe
HP:0100431,Broad distal phalanx of the 3rd toe
HP:0100432,Broad distal phalanx of the 4th toe
HP:0100433,Broad distal phalanx of the 5th toe
HP:0100434,"""An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0100435,"""An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0100436,"""An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0100437,"""An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0100438,"""An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0100439,"""An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0100440,"""An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0100441,"""An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0100442,"""An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."" [HPO:probinson]"
HP:0100443,"""A deviation from the normal straight form of the middle phalanx of the third toe."" [HPO:probinson]"
HP:0100444,"""A deviation from the normal straight form of the middle phalanx of the fourth toe."" [HPO:probinson]"
HP:0100445,"""A deviation from the normal straight form of the middle phalanx of the fifth toe."" [HPO:probinson]"
HP:0100446,"""A deviation from the normal straight form of the proximal phalanx of the third toe."" [HPO:probinson]"
HP:0100447,"""A deviation from the normal straight form of the proximal phalanx of the fourth toe."" [HPO:probinson]"
HP:0100448,"""A deviation from the normal straight form of the proximal phalanx of the fifth toe."" [HPO:probinson]"
HP:0100449,"""A deviation from the normal straight form of the distal phalanx of the third toe."" [HPO:probinson]"
HP:0100450,"""A deviation from the normal straight form of the distal phalanx of the fourth toe."" [HPO:probinson]"
HP:0100451,"""A deviation from the normal straight form of the distal phalanx of the fifth toe."" [HPO:probinson]"
HP:0100452,Osteolytic defects of the middle phalanx of the 3rd toe
HP:0100453,Osteolytic defects of the middle phalanx of the 4th toe
HP:0100454,Osteolytic defects of the middle phalanx of the 5th toe
HP:0100455,Osteolytic defects of the proximal phalanx of the 3rd toe
HP:0100456,Osteolytic defects of the proximal phalanx of the 4th toe
HP:0100457,Osteolytic defects of the proximal phalanx of the 5th toe
HP:0100458,Osteolytic defects of the distal phalanx of the 3rd toe
HP:0100459,Osteolytic defects of the distal phalanx of the 4th toe
HP:0100460,Osteolytic defects of the distal phalanx of the 5th toe
HP:0100461,Patchy sclerosis of the middle phalanx of the 3rd toe
HP:0100462,"""Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0100463,"""Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0100464,Patchy sclerosis of the proximal phalanx of the 3rd toe
HP:0100465,"""Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0100466,"""Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0100467,Patchy sclerosis of the distal phalanx of the 3rd toe
HP:0100468,"""Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0100469,"""Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."" [HPO:probinson]"
HP:0100470,Symphalangism affecting the middle phalanx of the 3rd toe
HP:0100471,Symphalangism affecting the middle phalanx of the 4th toe
HP:0100472,Symphalangism affecting the middle phalanx of the 5th toe
HP:0100473,Symphalangism affecting the proximal phalanx of the 3rd toe
HP:0100474,Symphalangism affecting the proximal phalanx of the 4th toe
HP:0100475,Symphalangism affecting the proximal phalanx of the 5th toe
HP:0100476,Symphalangism affecting the distal phalanx of the 3rd toe
HP:0100477,Symphalangism affecting the distal phalanx of the 4th toe
HP:0100478,Symphalangism affecting the distal phalanx of the 5th toe
HP:0100480,"""Bony fusion of the middle and proximal phalanges of the 3rd toe."" [HPO:sdoelken]"
HP:0100481,"""Bony fusion of the middle and proximal phalanges of the 4th toe."" [HPO:sdoelken]"
HP:0100482,"""Bony fusion of the middle and proximal phalanges of the 5th toe."" [HPO:sdoelken]"
HP:0100483,Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
HP:0100484,Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal
HP:0100485,Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal
HP:0100486,Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal
HP:0100487,Triangular shaped distal phalanx of the 5th toe
HP:0100488,Synostosis of the proximal phalanx of the hallux with the 1st metatarsal
HP:0100489,"""Bony fusion of the middle and proximal phalanges of the 2nd toe."" [HPO:sdoelken]"
HP:0100490,"""The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension."" [HPO:sdoelken, PMID:19125433]"
HP:0100491,Abnormality of lower limb joint
HP:0100493,"""A decreased concentration of ammonia in the blood."" [HPO:gcarletti]"
HP:0100494,"""Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation."" [HPO:sdoelken]"
HP:0100495,"""The presence of an increased number of mast cells and CD34+ mast cell precursors in the body."" [HPO:sdoelken]"
HP:0100496,Abnormality of the vitamin B3 metabolism
HP:0100497,Vitamin B3 deficiency
HP:0100498,Deviation of toes
HP:0100499,Tibial deviation of toes
HP:0100500,Fibular deviation of toes
HP:0100501,"""An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis."" [HPO:probinson]"
HP:0100502,Vitamin B12 deficiency
HP:0100503,"""A reduced concentration of vitamin B1."" []"
HP:0100504,"""A reduced concentration of vitamin B2."" []"
HP:0100505,"""A reduced concentration of vitamin B5."" []"
HP:0100506,"""A reduced concentration of vitamin B8."" []"
HP:0100507,"""A reduced circulating concentration of folic acid, which is also known as vitamin B9."" [HPO:probinson]"
HP:0100508,"""An anomaly in the metabolism of a vitamin."" [HPO:probinson]"
HP:0100509,Abnormality of vitamin C metabolism
HP:0100510,"""A reduced concentration of Vitamin C."" []"
HP:0100511,Abnormality of vitamin D metabolism
HP:0100512,"""A reduced concentration of Vitamin D."" []"
HP:0100513,"""A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol."" [PMID:30559825]"
HP:0100514,Abnormality of vitamin E metabolism
HP:0100515,"""Increased frequency of urination."" [HPO:probinson]"
HP:0100516,"""The presence of a neoplasm of the ureter."" [HPO:probinson]"
HP:0100517,"""The presence of a neoplasm of the urethra."" [HPO:probinson]"
HP:0100518,"""Painful or difficult urination."" [HPO:probinson]"
HP:0100519,"""Absence of urine, clinically classified as below 50ml/day."" [HPO:sdoelken]"
HP:0100520,"""Low output of urine, clinically classified as an output below 300-500ml/day."" [HPO:sdoelken]"
HP:0100521,"""A tumor (abnormal growth of tissue) of the thymus."" [HPO:probinson]"
HP:0100522,"""A tumor originating from the epithelial cells of the thymus."" [HPO:sdoelken]"
HP:0100523,"""The presence of an abscess of the liver."" [HPO:probinson]"
HP:0100524,"""Congenital duplication of all or part of a limb."" []"
HP:0100525,"""Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus."" [Eurenomics:ewuehl]"
HP:0100526,"""Tumor of the lung."" [HPO:probinson]"
HP:0100527,Neoplasia of the pleura
HP:0100528,"""A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant."" [HPO:sdoelken]"
HP:0100529,"""An abnormality of phosphate homeostasis or concentration in the body."" [HPO:probinson]"
HP:0100530,"""Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium."" []"
HP:0100531,"""The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other."" [HPO:sdoelken]"
HP:0100532,"""Inflammation of the sclera."" [HPO:probinson]"
HP:0100533,"""Inflammation of the eye, parts of the eye or the periorbital region."" [HPO:sdoelken]"
HP:0100534,"""Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye."" [HPO:probinson]"
HP:0100535,Tibiofibular diastasis
HP:0100536,"""An abnormality of fascia."" [HPO:probinson]"
HP:0100537,"""Inflammation of fascia, the tissue under the skin and over the muscle."" [HPO:probinson]"
HP:0100538,"""An anomaly of the supraorbital portion of the frontal bones."" [HPO:probinson]"
HP:0100539,"""Edema affecting the region situated around the orbit of the eye."" [HPO:probinson]"
HP:0100540,"""Edema in the region of the eyelids."" [HPO:probinson]"
HP:0100541,"""A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal."" [HPO:sdoelken]"
HP:0100542,"""An abnormal site of the kidney."" [HPO:probinson]"
HP:0100543,"""Abnormal cognition with deficits in thinking, reasoning, or remembering."" [HPO:sdoelken]"
HP:0100544,"""A tumor (abnormal growth of tissue) of the heart."" [HPO:probinson]"
HP:0100545,"""Narrowing or constriction of the inner surface (lumen) of an artery."" [HPO:probinson]"
HP:0100546,"""Narrowing of the carotid arteries."" [HPO:probinson]"
HP:0100547,"""An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle."" [HPO:probinson]"
HP:0100548,"""Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall."" [HPO:probinson]"
HP:0100550,"""Breakage (tear) of a tendon."" [HPO:probinson, PMID:27047816]"
HP:0100551,"""A neoplasm of the trachea."" []"
HP:0100552,Neoplasm of the tracheobronchial system
HP:0100553,"""Overgrowth of only one leg."" [HPO:probinson]"
HP:0100554,"""Overgrowth of only one arm."" [HPO:probinson]"
HP:0100555,"""A growth pattern that displays an abnormal difference between the left and the right side."" [HPO:probinson]"
HP:0100556,"""Undergrowth of the limbs that affects only one side."" [DDD:hfirth]"
HP:0100557,"""Unilateral atrophy (reduction in size) of a leg."" [HPO:probinson]"
HP:0100558,"""Unilateral atrophy (reduction in size) of an arm."" [HPO:probinson]"
HP:0100559,"""A difference in length or diameter between the left and right leg."" [HPO:probinson]"
HP:0100560,"""Difference in length or size between the right and left arm."" [HPO:probinson]"
HP:0100561,Spinal cord lesion
HP:0100562,"""Duplication of the spinal cord."" [HPO:sdoelken]"
HP:0100563,"""Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum."" [HPO:sdoelken]"
HP:0100564,"""Triplication of the spinal cord - extremely rare."" [HPO:sdoelken]"
HP:0100565,"""Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo."" [HPO:sdoelken]"
HP:0100566,"""Congenital absence of the spinal cord."" [HPO:sdoelken]"
HP:0100568,"""A tumor (abnormal growth of tissue) of the endocrine system."" [HPO:probinson]"
HP:0100569,"""An abnormality of the formation and mineralization of one or more vertebrae."" [HPO:probinson]"
HP:0100570,"""A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin."" [HPO:sdoelkens]"
HP:0100571,"""A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular."" [HPO:sdoelken]"
HP:0100572,"""A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly."" [HPO:sdoelken]"
HP:0100573,Muscular cardiac diverticulum
HP:0100574,"""A tumor (abnormal growth of tissue) of the biliary system."" [HPO:probinson]"
HP:0100575,"""The presence of a neoplasm of the gallbladder."" [HPO:probinson]"
HP:0100576,"""A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition."" [HPO:sdoelken]"
HP:0100577,"""Inflammation of the urinary bladder."" [HPO:probinson]"
HP:0100578,"""Localized loss of fat tissue."" [HPO:sdoelken]"
HP:0100579,"""Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs."" [HPO:sdoelken]"
HP:0100580,"""An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system."" [HPO:sdoelken]"
HP:0100581,"""An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine."" [HPO:sdoelken]"
HP:0100582,"""Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis."" [HPO:sdoelken, PMID:18728843]"
HP:0100583,"""A rupture of the cornea through which a portion of the iris protrudes."" [DDD:ncarter]"
HP:0100584,"""An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves."" [HPO:sdoelken]"
HP:0100585,"""Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions."" [HPO:probinson]"
HP:0100586,"""Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria."" [HPO:probinson, PMID:25760357, PMID:26425144, PMID:26917663]"
HP:0100587,"""An abnormality of the retractable fold of skin that covers the tip of the penis."" []"
HP:0100588,"""The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis."" [HPO:sdoelken]"
HP:0100589,"""The presence of a fistula affecting the genitourinary system."" [HPO:probinson]"
HP:0100590,"""The presence of a fistula affecting the rectum."" [HPO:probinson]"
HP:0100592,"""The presence of an abscess of the peritoneum."" [HPO:probinson]"
HP:0100593,"""The presence of calcium deposition in cartilage."" []"
HP:0100594,"""Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare)."" [HPO:sdoelken]"
HP:0100595,"""An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders."" [HPO:sdoelken]"
HP:0100596,"""The nostrils (the paired channels of the nose) are not present."" [HPO:probinson]"
HP:0100598,"""Fluid accumulation in the lungs."" [HPO:sdoelken]"
HP:0100599,"""Two penile structures, separated from the tip to the base of the shaft."" [HPO:sdoelken, PMID:23650202]"
HP:0100600,"""A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis."" [HPO:sdoelken]"
HP:0100601,"""An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders."" [HPO:sdoelken]"
HP:0100602,"""Pregnancy-induced hypertension in association with significant amounts of protein in the urine."" [HPO:sdoelken]"
HP:0100603,"""Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia."" [HPO:sdoelken]"
HP:0100604,"""A tumor (abnormal growth of tissue) of the lip."" [HPO:probinson]"
HP:0100605,Neoplasm of the larynx
HP:0100606,"""A tumor (abnormal growth of tissue) of the respiratory system."" [HPO:probinson]"
HP:0100607,"""Pain during menstruation that interferes with daily activities."" [PMID:15686299]"
HP:0100608,"""Bleeding at irregular intervals."" [PMID:22594864]"
HP:0100610,"""A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy."" [HPO:probinson]"
HP:0100611,"""The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule."" [Eurenomics:fschaefer, PMID:20091054, PMID:20367310]"
HP:0100612,"""Neoplasm involving odontogenic cells, an odontogenic tumor."" [HPO:sdoelken]"
HP:0100613,"""Death between the age of 16 and 40 years."" [HPO:probinson]"
HP:0100614,"""A general term for inflammation of the muscles without respect to the underlying cause."" [HPO:sdoelken]"
HP:0100615,"""A tumor (abnormal growth of tissue) of the ovary."" [HPO:probinson]"
HP:0100616,"""The presence of a teratoma of the testis."" [HPO:sdoelken]"
HP:0100617,"""The presence of a seminoma, an undifferentiated germ cell tumor of the testis."" [HPO:sdoelken]"
HP:0100618,"""The presence of a neoplasm of the testis with origin in a Leydig cell."" [HPO:probinson]"
HP:0100619,"""The presence of a neoplasm of the testis with origin in a Sertoli cell."" [HPO:probinson]"
HP:0100620,"""A type of undifferentiated germ cell tumor that may be benign or malignant."" [HPO:sdoelken]"
HP:0100621,"""The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary."" [HPO:sdoelken]"
HP:0100622,"""A seizure during pregnancy."" [PMID:25746572]"
HP:0100623,Abnormality of corpus cavernosum
HP:0100624,Corpus cavernosum sclerosis
HP:0100625,Enlarged thorax
HP:0100626,Chronic hepatic failure
HP:0100627,"""A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina)."" [HPO:sdoelken]"
HP:0100628,"""The presence of a diverticulum of the esophagus."" [HPO:probinson]"
HP:0100629,"""A congenital malformation with a cleft (gap or opening) in the midline of the face."" [HPO:probinson]"
HP:0100630,Neoplasia of the nasopharynx
HP:0100631,"""A tumor (abnormal growth of tissue) of the adrenal gland."" [DDD:rscott]"
HP:0100632,"""The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration)."" [HPO:sdoelken]"
HP:0100633,"""Inflammation of the esophagus."" [HPO:probinson]"
HP:0100634,"""A tumor that originates from a neuroendocrine cell."" [NCIT:C3809, PMID:28448665]"
HP:0100635,"""A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery."" [HPO:probinson]"
HP:0100636,"""A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells."" [PMID:26215714]"
HP:0100638,"""A neoplasm originating in the pharynx."" []"
HP:0100639,"""A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological."" [PMID:27188339]"
HP:0100640,"""Presence of a cyst (sac-like structure) located in the larynx."" [HPO:probinson, PMID:24040590]"
HP:0100641,"""The presence of a neoplasm of the adrenal cortex."" [HPO:probinson]"
HP:0100642,"""The presence of a neoplasm of the adrenal medulla."" [HPO:probinson]"
HP:0100643,"""An anomaly of the color of the nail."" [HPO:probinson]"
HP:0100644,"""Brown or black discoloration of the nails."" [HPO:probinson]"
HP:0100645,"""Anterior vaginal wall prolapse with bulging of the bladder into the vagina."" [HPO:sdoelken]"
HP:0100646,"""Inflammation of the thyroid gland."" [HPO:probinson]"
HP:0100647,"""An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients."" [HPO:sdoelken]"
HP:0100648,"""A tumor (abnormal growth of tissue) of the tongue."" [HPO:probinson]"
HP:0100649,"""A tumor (abnormal growth of tissue) of the oral cavity."" [HPO:probinson]"
HP:0100650,"""A tumor (abnormal growth of tissue) of the vagina."" [HPO:probinson]"
HP:0100651,"""A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin."" [HPO:probinson]"
HP:0100653,"""Inflammation of the optic nerve."" [HPO:sdoelken]"
HP:0100654,"""Optic neuritis that occurs in the section of the optic nerve located behind the eyeball."" [HPO:sdoelken]"
HP:0100656,"""Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development."" []"
HP:0100657,"""Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls."" [HPO:sdoelken]"
HP:0100658,"""A bacterial infection and inflammation of the skin und subcutaneous tissues."" []"
HP:0100659,"""An anomaly of the cerebral blood vessels."" [PMID:30335330]"
HP:0100660,"""A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements."" [HPO:sdoelken]"
HP:0100661,"""A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected."" [HPO:sdoelken]"
HP:0100662,"""Inflammation of cartilage."" [HPO:sdoelken]"
HP:0100663,"""A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw."" [HPO:sdoelken]"
HP:0100665,"""Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis."" [HPO:sdoelken]"
HP:0100668,"""A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine."" [HPO:probinson]"
HP:0100669,"""An abnormality of the pigmentation of the mucosa of the mouth."" [HPO:probinson]"
HP:0100670,"""Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms."" [PMID:409205]"
HP:0100671,"""Abnormal structure or form of trabecular bone."" [HPO:probinson]"
HP:0100672,"""The presence of a hernia of the vagina."" [HPO:probinson]"
HP:0100673,"""A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable."" [PMID:32644551]"
HP:0100674,Vaginal hematocele
HP:0100675,Vaginal pyocele
HP:0100676,Vaginal lymphocele
HP:0100677,"""Varicosity of veins in the vulval region."" [HPO:probinson]"
HP:0100678,"""The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms."" [HPO:probinson]"
HP:0100679,Lack of skin elasticity
HP:0100681,"""A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication."" [HPO:probinson, PMID:10464795]"
HP:0100682,"""A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking."" [HPO:probinson, PMID:9776081]"
HP:0100684,"""A tumor (abnormal growth of tissue) of a salivary gland."" [HPO:probinson]"
HP:0100685,"""An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone."" [HPO:probinson]"
HP:0100686,Enthesitis
HP:0100687,"""The presence of an extra auricle on one or both sides of the head."" [HPO:sdoelken]"
HP:0100689,"""A decreased anteroposterior thickness of the cornea."" [HPO:gblack]"
HP:0100690,Mosaic central corneal dystrophy
HP:0100691,Abnormality of the curvature of the cornea
HP:0100692,"""An increase in the degree of curvature of the cornea compared to normal."" [DDD:ncarter]"
HP:0100693,"""Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens."" [HPO:sdoelken]"
HP:0100694,"""Twisted position of the tibia (shin bone) associated with pathological rotation of the leg."" [HPO:sdoelken]"
HP:0100695,"""Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise ."" [HPO:sdoelken]"
HP:0100697,"""A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma."" [HPO:sdoelken]"
HP:0100698,"""The presence of Neurofibromas in the subcutis."" [HPO:sdoelken]"
HP:0100699,"""A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed."" []"
HP:0100700,"""An abnormality of the Arachnoid mater."" [HPO:sdoelken]"
HP:0100701,"""An abnormality of the pia mater."" [HPO:sdoelken]"
HP:0100702,"""An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid."" [HPO:sdoelken]"
HP:0100703,Tongue thrusting
HP:0100704,"""A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye."" [HPO:probinson, PMID:28082927]"
HP:0100705,"""An abnormality of the glia cell."" [HPO:probinson]"
HP:0100706,"""One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers."" [HPO:sdoelken]"
HP:0100707,"""An abnormality of astrocytes."" [HPO:probinson]"
HP:0100708,"""An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells."" [HPO:probinson]"
HP:0100709,Reduction of oligodendroglia
HP:0100710,"""Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress."" [PMID:23902698]"
HP:0100711,"""An abnormality of the thoracic vertebral column."" [HPO:probinson]"
HP:0100712,"""Any structural abnormality of the lumbar vertebral column."" [HPO:probinson]"
HP:0100716,"""Aggression towards oneself."" [HPO:sdoelken]"
HP:0100717,"""Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root)."" [PMID:31468724]"
HP:0100718,Uterine rupture
HP:0100719,"""A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence."" [HPO:probinson]"
HP:0100720,Hypoplasia of the ear cartilage
HP:0100721,"""Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes."" [HPO:probinson]"
HP:0100723,Gastrointestinal stroma tumor
HP:0100724,"""An abnormality of coagulation associated with an increased risk of thrombosis."" [HPO:probinson]"
HP:0100725,"""Thickening and hardening of the epidermis seen with exaggeration of normal skin lines."" [HPO:probinson]"
HP:0100726,"""A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV)."" [HPO:sdoelken]"
HP:0100727,"""An excessive number of histiocytes (tissue macrophages)."" [HPO:sdoelken]"
HP:0100728,Germ cell neoplasia
HP:0100729,Large face
HP:0100730,"""A rare congenital cystic lesion of the lungs in the mediastinum."" [HPO:sdoelken, PMID:24605255]"
HP:0100731,"""A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear."" [DDD:jhurst]"
HP:0100732,Pancreatic fibrosis
HP:0100733,"""A tumor (abnormal growth of tissue) of the parathyroid gland."" [HPO:probinson]"
HP:0100734,"""An anomaly of one or more epiphyses of one or more vertebrae."" []"
HP:0100735,Hypertensive crisis
HP:0100736,"""An abnormality of the soft palate."" [HPO:probinson]"
HP:0100737,Abnormal hard palate morphology
HP:0100738,"""Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption."" []"
HP:0100739,"""A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these)."" [HPO:probinson, PMID:23346610]"
HP:0100742,"""A benign or malignant neoplasm (tumour) originating in the vascular system."" [HPO:probinson]"
HP:0100743,Neoplasm of the rectum
HP:0100744,Abnormality of the humeroradial joint
HP:0100745,"""An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint."" [HPO:probinson]"
HP:0100746,"""A type of Macrodactyly affecting one or several fingers."" [HPO:probinson]"
HP:0100747,"""A type of Macrodactyly affecting one or several toes."" [HPO:probinson]"
HP:0100748,Muscular edema
HP:0100749,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest."" []"
HP:0100750,"""Collapse of part of a lung associated with absence of inflation (air) of that part."" [HPPO:probinson]"
HP:0100751,"""A tumor (abnormal growth of tissue) of the esophagus."" []"
HP:0100752,"""Formation of abnormal lobules (small masses of tissue) in the liver."" [HPO:probinson]"
HP:0100753,"""A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%."" [HPO:sdoelken]"
HP:0100754,"""A state of abnormally elevated or irritable mood, arousal, and or energy levels."" [PMID:15104084]"
HP:0100755,Abnormality of salivation
HP:0100757,"""A rare pediatric carcinoma of the pancreas."" [HPO:sdoelken]"
HP:0100758,"""A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)."" [ISBN:9780781770873]"
HP:0100759,"""Terminal broadening of the fingers (distal phalanges of the fingers)."" [HPO:sdoelken]"
HP:0100760,"""Terminal broadening of the toes (distal phalanges of the toes)."" [HPO:sdoelken]"
HP:0100761,Visceral angiomatosis
HP:0100762,"""Bleeding into the biliary tree."" [HPO:sdoelken]"
HP:0100763,"""An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively."" [HPO:probinson]"
HP:0100764,"""Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor."" [HPO:probinson, PMID:12376602]"
HP:0100765,"""An abnormality of the tonsils."" [HPO:probinson]"
HP:0100766,"""A structural anomaly of the vessel that contains or conveys lymph fluid."" [https://en.wikipedia.org/wiki/Lymphatic_vessel]"
HP:0100767,"""An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange."" [HPO:probinson]"
HP:0100768,"""A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors."" [HPO:sdoelken]"
HP:0100769,Synovitis
HP:0100770,"""Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine."" [HPO:probinson]"
HP:0100771,"""Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract."" [HPO:probinson]"
HP:0100773,Cartilage destruction
HP:0100774,"""Excessive growth or abnormal thickening of bone tissue."" [HPO:probinson]"
HP:0100775,"""A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level."" [HPO:sdoelken]"
HP:0100776,"""An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis."" [HPO:probinson]"
HP:0100777,"""An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage."" [HPO:probinson]"
HP:0100778,"""Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius."" [HPO:probinson]"
HP:0100779,"""A rare birth defect in women where the urethra and vagina both open into a common channel."" [HPO:curators]"
HP:0100780,"""A hamartoma (disordered proliferation of mature tissues) of the conjunctiva."" [HPO:probinson]"
HP:0100781,"""An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone)."" [HPO:probinson, PMID:16700283]"
HP:0100783,"""Failure to develop and congenital absence of the breast."" []"
HP:0100784,Peripheral arteriovenous fistula
HP:0100785,"""Persistent difficulty initiating or maintaining sleep."" [PMID:23423416]"
HP:0100786,Hypersomnia
HP:0100787,Prostate neoplasm
HP:0100788,"""Lack of separation of the upper and lower lips."" [HPO:probinson]"
HP:0100789,"""A bony protrusion present on the midline of the hard palate."" [HPO:sdoelken]"
HP:0100790,Hernia
HP:0100792,"""The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes."" [HPO:sdoelken]"
HP:0100795,"""The absence of the normal curvature of the vertebral column."" [HPO:sdoelken]"
HP:0100796,"""Testicular inflammation."" [HPO:sdoelken]"
HP:0100797,"""An abnormality of the development of the toenails."" [HPO:probinson]"
HP:0100798,"""An abnormality of the development of the fingernails."" [HPO:probinson]"
HP:0100799,"""A tumor (abnormal growth of tissue) of the middle ear."" [HPO:probinson]"
HP:0100800,"""A congenital underdevelopment (aplasia or hypoplasia) of the pancreas."" [HPO:sdoelken]"
HP:0100801,"""Aplasia of the pancreas."" [HPO:sdoelken]"
HP:0100802,"""Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation."" [HPO:probinson, PMID:16465538]"
HP:0100803,"""An abnormality of the region around the nails of the fingers or toes."" [HPO:probinson]"
HP:0100804,"""Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate)."" [HPO:probinson, PMID:18815399]"
HP:0100806,"""Systemic inflammatory response to infection."" [HPO:probinson]"
HP:0100807,"""The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand."" [PMID:19125433]"
HP:0100808,"""An outpouching of the gastric wall."" [HPO:probinson, PMID:22257431]"
HP:0100809,"""Pain or discomfort of the scalp elicited by palpation."" [HPO:probinson]"
HP:0100810,Pointed helix
HP:0100811,"""Congenital absence or underdevelopment of the colon."" [HPO:probinson]"
HP:0100812,"""Noticeably unpleasant odors exhaled in breathing."" [HPO:sdoelken]"
HP:0100813,"""Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain."" [HPO:sdoelken]"
HP:0100814,Blue nevus
HP:0100816,Lip hyperpigmentation
HP:0100817,"""The presence of hypertension related to stenosis of the renal artery."" [HPO:probinson]"
HP:0100818,"""Increased inferior to superior extent of the thorax."" [HPO:probinson]"
HP:0100819,"""An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract."" [HPO:probinson]"
HP:0100820,"""Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron."" [HPO:sdoelken]"
HP:0100821,"""The prolapse of the female urethra into the vagina."" [HPO:sdoelken]"
HP:0100822,"""A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy."" [HPO:sdoelken]"
HP:0100823,Genital hernia
HP:0100825,"""Inflammation of the lip."" [HPO:sdoelken]"
HP:0100826,"""A tumor (abnormal growth of tissue) of the nail."" [HPO:probinson]"
HP:0100827,"""Increase in the number or proportion of lymphocytes in the blood."" [HPO:sdoelken]"
HP:0100828,"""An abnormal increase in the total number of T cells detected in the blood."" []"
HP:0100829,"""Spontaneous flow of milk from the breast, unassociated with childbirth or nursing."" [HPO:sdoelken]"
HP:0100830,Round ear
HP:0100831,"""Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade."" [HPO:probinson]"
HP:0100832,"""Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent."" [HPO:sdoelken]"
HP:0100833,"""The presence of a neoplasm of the small intestine."" [HPO:probinson]"
HP:0100834,"""The presence of a neoplasm of the large intestine."" [HPO:probinson]"
HP:0100835,Benign neoplasm of the central nervous system
HP:0100836,"""A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns."" [HPO:probinson]"
HP:0100837,"""Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions."" [HPO:probinson]"
HP:0100838,"""An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses."" [HPO:probinson]"
HP:0100839,"""Absence of the liver owing to a failure of the liver to develop."" [HPO:probinson]"
HP:0100840,"""Absence or underdevelopment of the eyebrow."" [HPO:probinson]"
HP:0100841,"""A developmental anomaly wtih a small tubular or saccular midline stomach."" [PMID:10067744]"
HP:0100842,"""Underdevelopment of the optic nerve and absence of the septum pellucidum."" [HPO:sdoelken]"
HP:0100844,Pancreatic fistula
HP:0100845,"""An acute hypersensitivity reaction due to exposure to a previously encountered antigen."" [HPO:probinson]"
HP:0100847,"""A chronic, relapsing, pustular eruption that is localized to the palms and soles."" [HPO:probinson, PMID:23209116]"
HP:0100848,"""A tumor (abnormal growth of tissue) of the male external genitalia."" [HPO:sdoelken]"
HP:0100849,"""A tumor (abnormal growth of tissue) of the scrotum."" [HPO:probinson]"
HP:0100850,"""A tumor (abnormal growth of tissue) of the penis."" [HPO:probinson]"
HP:0100851,"""An abnormality of emotional behaviour."" [HPO:sdoelken]"
HP:0100852,"""An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response."" [HPO:sdoelken]"
HP:0100853,"""Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple."" [HPO:probinson]"
HP:0100854,"""Absence of the musculature."" [HPO:sdoelken]"
HP:0100855,"""Hypoplasia of the triceps muscle."" [HPO:sdoelken]"
HP:0100856,"""Decreased ossification of the vertebral bodies."" [HPO:sdoelken]"
HP:0100857,"""An abnormally flat sella turcica."" [HPO:sdoelken]"
HP:0100858,"""Abnormal outpouching or sac-like dilatation in the wall of the celiac artery."" [HPO:probinson]"
HP:0100859,"""Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery ."" [HPO:probinson]"
HP:0100860,"""Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery ."" [HPO:probinson]"
HP:0100861,"""Increase in bone density of the vertebral body."" [HPO:probinson]"
HP:0100862,Aplasia of the femoral head
HP:0100863,Aplasia of the femoral neck
HP:0100864,"""An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)."" [HPO:probinson]"
HP:0100865,"""Increased width of the ischium, which forms the lower and back part of the hip bone."" [HPO:probinson]"
HP:0100866,"""Underdevelopment of the iliac bones."" [PMID:29019756]"
HP:0100867,"""The narrowing or partial blockage of a portion of the duodenum."" [HPO:sdoelken]"
HP:0100869,"""The presence of telangiectases on the skin of palm of hand."" [HPO:probinson]"
HP:0100870,"""Telangiectases (small dilated blood vessels) located on the skin of sole of foot."" [HPO:probinson]"
HP:0100871,"""An abnormality of the palm, that is, of the front of the hand."" [HPO:probinson]"
HP:0100872,"""An abnormality of the plantar part of foot, that is of the soles of the feet."" [HPO:probinson]"
HP:0100874,"""Increased density of hairs, i.e., and elevated number of hairs per unit area."" [HPO:probinson]"
HP:0100875,"""Increased length and width of one half of the tounge."" [HPO:sdoelken]"
HP:0100876,"""Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma."" [PMID:19125427]"
HP:0100877,"""Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system."" [HPO:sdoelken]"
HP:0100878,Enlarged uterus
HP:0100879,Enlarged ovaries
HP:0100880,"""Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney."" [HPO:sdoelken]"
HP:0100881,"""Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue."" [HPO:sdoelken]"
HP:0100882,"""A rare, benign soft tissue tumor that typically occurs within the first two years of life."" [HPO:sdoelken]"
HP:0100883,"""Hamartoma-like growth in the placenta consisting of blood vessels."" [HPO:sdoelken, PMID:20594143, PMID:24251055]"
HP:0100884,"""A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time."" [HPO:sdoelken]"
HP:0100885,"""Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life."" [HPO:sdoelken]"
HP:0100886,"""An abnormality in the placement of the ocular globe (eyeball)."" [HPO:sdoelken]"
HP:0100887,"""An abnormality in the size of the ocular globe (eyeball)."" [HPO:sdoelken]"
HP:0100888,Interdigital loops
HP:0100889,"""An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder."" [HPO:sdoelken]"
HP:0100890,Cyst of the ductus choledochus
HP:0100891,"""A cleft of the xiphoid process of the sternum."" [HPO:sdoelken]"
HP:0100892,"""An abnormality of the xiphoid process of the sternum."" [HPO:sdoelken]"
HP:0100893,"""Increased prominence of the xiphoid process of the sternum."" [HPO:probinson]"
HP:0100894,"""Increased side-to-side width of the xiphoid process of the sternum."" [HPO:probinson]"
HP:0100896,"""The presence of multiple rectal hyperplastic/adenomatous polyps."" [HPO:probinson]"
HP:0100898,"""Connective tissue nevi are hamartomas in which one or several components of the dermis is altered."" [HPO:sdoelken]"
HP:0100899,"""An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100900,Sclerosis of the distal phalanx of the 2nd finger
HP:0100901,Sclerosis of the distal phalanx of the 3rd finger
HP:0100902,Sclerosis of the distal phalanx of the 4th finger
HP:0100903,Sclerosis of the distal phalanx of the 5th finger
HP:0100904,Sclerosis of the middle phalanx of the 2nd finger
HP:0100905,Sclerosis of the middle phalanx of the 3rd finger
HP:0100906,Sclerosis of the middle phalanx of the 4th finger
HP:0100907,Sclerosis of the middle phalanx of the 5th finger
HP:0100908,Sclerosis of the proximal phalanx of the 2nd finger
HP:0100909,Sclerosis of the proximal phalanx of the 3rd finger
HP:0100910,Sclerosis of the proximal phalanx of the 4th finger
HP:0100911,Sclerosis of the proximal phalanx of the 5th finger
HP:0100912,"""An elevation of bone density in the distal phalanx of the thumb."" [HPO:probinson]"
HP:0100913,"""An elevation of bone density in the proximal phalanx of the thumb."" [HPO:probinson]"
HP:0100914,Sclerosis of the 1st metacarpal
HP:0100915,"""An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100916,"""An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100917,"""An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100918,"""An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100919,"""An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100920,"""An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100921,"""An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100922,Sclerosis of thumb phalanx
HP:0100923,"""An increase in bone density within the clavicle."" [HPO:probinson]"
HP:0100924,"""An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100925,"""An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100926,"""An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100927,"""An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100928,"""An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100929,"""An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100930,"""An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100931,"""An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100932,"""An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100933,Sclerosis of the proximal phalanx of the 4th toe
HP:0100934,Sclerosis of the proximal phalanx of the 5th toe
HP:0100935,Sclerosis of the middle phalanx of the 2nd toe
HP:0100936,"""An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100937,Sclerosis of the middle phalanx of the 4th toe
HP:0100938,Sclerosis of the middle phalanx of the 5th toe
HP:0100939,Sclerosis of the distal phalanx of the 2nd toe
HP:0100940,"""An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100941,Sclerosis of the distal phalanx of the 4th toe
HP:0100942,Sclerosis of the distal phalanx of the 5th toe
HP:0100943,Sclerosis of the proximal phalanx of the hallux
HP:0100944,Sclerosis of the distal phalanx of the hallux
HP:0100945,Sclerosis of the 1st metatarsal
HP:0100946,"""An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100947,"""An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100948,"""An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity."" [HPO:probinson]"
HP:0100950,Decreased 3-hydroxyacyl-CoA dehydrogenase level
HP:0100951,Enlarged fossa interpeduncularis
HP:0100952,"""An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure)."" [HPO:probinson]"
HP:0100953,Enlarged interhemispheric fissure
HP:0100954,"""Underdevelopment of the operculum."" [HPO:sdoelken]"
HP:0100955,Giant cell granuloma of mandible
HP:0100957,"""Any structural abnormality of the medulla of the kidney."" [HPO:probinson, PMID:22343825]"
HP:0100958,"""Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis."" [HPO:probinson]"
HP:0100959,"""Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex."" [HPO:sdoelken, PMID:10352605]"
HP:0100960,"""Abnormal difference in size between the left and right lateral cerebral ventricles."" [ORCID:0000-0002-6670-9157, PMID:18253688, PMID:2257506]"
HP:0100961,"""Increase in size of the hippocampus."" [HPO:probinson]"
HP:0100962,Shyness
HP:0100963,"""Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain."" [PMID:33085272]"
HP:0200000,"""Different levels of maturation of different bones."" [HPO:probinson]"
HP:0200001,"""A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones."" [HPO:probinson]"
HP:0200003,"""Flaring (widening) of the epiphysis."" [HPO:probinson]"
HP:0200005,"""The presence of an abnormal shape of the palpebral fissure."" [HPO:probinson]"
HP:0200006,Slanting of the palpebral fissure
HP:0200007,"""An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures."" [HPO:sdoelken]"
HP:0200008,"""The presence of multiple polyps in the intestine."" [HPO:probinson]"
HP:0200011,Abnormal length of corpus callosum
HP:0200012,Short corpus callosum
HP:0200013,"""A tumor (abnormal growth of tissue) of adipose tissue."" [HPO:sdoelken]"
HP:0200015,Symmetric great toe depigmentation
HP:0200016,"""Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet."" [HPO:skoehler]"
HP:0200017,"""Congenital defect with failure of the development of the cerebral white matter."" [HPO:probinson]"
HP:0200018,"""A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green."" [HPO:probinson]"
HP:0200020,"""An erosion or abrasion of the cornea's outermost layer of epithelial cells."" [HPO:sdoelken]"
HP:0200021,"""Low set, steeply sloping shoulders."" [HPO:probinson]"
HP:0200022,"""Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus."" [HPO:skoehler]"
HP:0200023,"""A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours."" [HPO:skoehler]"
HP:0200024,"""The presence of premature sister chromatid segregation."" [HPO:probinson]"
HP:0200025,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible."" []"
HP:0200026,"""An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye."" []"
HP:0200028,"""A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet."" [HPO:skoehler]"
HP:0200029,Vasculitis in the skin
HP:0200030,Punctate vasculitis skin lesions
HP:0200032,"""Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea."" [HPO:SKOEHLER]"
HP:0200034,"""A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point."" [HPO:skoehler]"
HP:0200035,"""A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter."" [HPO:skoehler]"
HP:0200036,"""Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat."" [HPO:skoehler]"
HP:0200037,"""A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point."" [HPO:SKOEHLER]"
HP:0200039,"""A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells."" [HPO:skoehler]"
HP:0200040,"""Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts."" [HPO:skoehler]"
HP:0200041,"""A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed."" [HPO:skoehler]"
HP:0200042,"""A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat."" [HPO:skoehler]"
HP:0200043,"""Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas."" [HPO:skoehler]"
HP:0200044,"""A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella."" [HPO:skoehler]"
HP:0200046,"""The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten."" [HPO:probinson]"
HP:0200047,"""Inflammation of the cartilage of the external ear."" [HPO:probinson]"
HP:0200048,Cyanotic episode
HP:0200049,"""Increased muscle tone observed in the arms of the affected person."" [ORCID:0000-0002-6670-9157, PMID:21642056]"
HP:0200050,Bracket metacarpal epiphyses
HP:0200053,"""Shortening of a leg affecting only one side."" [HPO:curators]"
HP:0200054,Foot monodactyly
HP:0200055,"""Disproportionately small hand."" [HPO:probinson]"
HP:0200056,"""Scar tissue in the macula."" [HPO:probinson]"
HP:0200057,"""An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye."" [PMID:23520419, PMID:32491607]"
HP:0200058,Angiosarcoma
HP:0200059,Metastatic angiosarcoma
HP:0200063,"""Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen."" []"
HP:0200064,"""Asymmetry between the two irides or asymmetry between different parts of one iris."" [ORCID:0000-0003-0986-4123]"
HP:0200065,Chorioretinal degeneration
HP:0200066,Ribbonlike corneal degeneration
HP:0200067,"""Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference."" [HPO:probinson]"
HP:0200068,Nonprogressive visual loss
HP:0200070,Peripheral retinal atrophy
HP:0200071,"""A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina."" []"
HP:0200072,"""Intermittent episodes of paralysis of all four limbs."" [HPO:probinson]"
HP:0200073,Respiratory insufficiency due to defective ciliary clearance
HP:0200083,Severe limb shortening
HP:0200084,"""Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver."" [PMID:27746622]"
HP:0200085,Limb tremor
HP:0200094,Frontal open bite
HP:0200096,"""A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle."" [HPO:probinson]"
HP:0200097,"""Blisters arising in the mouth."" [HPO:probinson]"
HP:0200098,"""Lack of skin pigmentation (coloring)."" [HPO:probinson]"
HP:0200101,Decreased/absent ankle reflexes
HP:0200102,Sparse or absent eyelashes
HP:0200104,"""Absence of nail of little finger."" [HPO:probinson]"
HP:0200105,Absent fifth toenail
HP:0200106,Absent/shortened dynein arms
HP:0200107,Shortened inner dynein arms
HP:0200108,Shortened outer dynein arms
HP:0200109,Absent/shortened outer dynein arms
HP:0200111,Absent stapes head
HP:0200113,Aphalangy of hands and feet
HP:0200114,"""Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process."" [PMID:29493916]"
HP:0200116,Distal ileal atresia
HP:0200117,"""Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections."" []"
HP:0200118,Malabsorption of Vitamin B12
HP:0200119,"""Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders."" []"
HP:0200120,"""Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis."" [PMID:7418593]"
HP:0200122,Atypical or prolonged hepatitis
HP:0200123,"""Hepatitis that lasts for more than six months."" [https://patient.info/doctor/chronic-hepatitis]"
HP:0200124,"""Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue."" [PMID:23440042]"
HP:0200125,Mitochondrial respiratory chain defects
HP:0200127,"""Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations."" [PMID:27402624]"
HP:0200128,"""Thickening of the heart walls in both ventricles."" [PMID:28740584]"
HP:0200133,Lumbosacral meningocele
HP:0200134,"""A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death."" [PMID:21590624, PMID:23213494]"
HP:0200136,Oral-pharyngeal dysphagia
HP:0200138,Bilateral choanal atresia/stenosis
HP:0200141,"Small, conical teeth"
HP:0200143,Megaloblastic erythroid hyperplasia
HP:0200146,"""An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.)."" [PMID:27031798]"
HP:0200147,"""A reduction in the number of nerve cells in the basal ganglia."" [HPO:probinson, PMID:13729575]"
HP:0200148,Abnormal liver function tests during pregnancy
HP:0200149,"""An increased lymphocyte count in the cerebrospinal fluid."" [KI:phemming]"
HP:0200150,Increased serum bile acid concentration during pregnancy
HP:0200151,"""Multifocal dense infiltrates of mast cells in cutaneous tissue."" [HPO:probinson, PMID:21668033]"
HP:0200153,Agenesis of lateral incisor
HP:0200154,Agenesis of mandibular lateral incisor
HP:0200158,Agenesis of permanent mandibular lateral incisor
HP:0200159,Agenesis of primary mandibular lateral incisor
HP:0200160,Agenesis of maxillary incisor
HP:0200161,Agenesis of mandibular incisor
HP:0400000,"""Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin."" [eom:96d8ca16a3c80216, PMID:19125436]"
HP:0400001,"""Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest."" [eom:8a5493c72e0dd13c, PMID:19125436]"
HP:0400002,"""Folds or ridges within the concha that are distinct from the crus helix."" [eom:40563f1f62db2319, PMID:19152421]"
HP:0400003,"""Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe)."" [eom:5b0e213b31288acd, PMID:19152421]"
HP:0400004,"""Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear."" [eom:2028381d5c61842a, PMID:19152421]"
HP:0400005,"""Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear."" [eom:2cff5ac9b681fc73, PMID:19152421]"
HP:0400007,"""Frequent menses; menstrual cycles lasting less than 21 days."" [PMID:22594864]"
HP:0400008,"""Prolonged/excessive menses and bleeding at irregular intervals."" [PMID:22594864]"
HP:0410000,"""An abnormality of the vomer."" [GOC:NV]"
HP:0410003,"""Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine."" []"
HP:0410005,Cleft hard palate
HP:0410006,"""Abnormality of the first branch of the internal carotid artery."" [ORCID:0000-0001-5889-4463]"
HP:0410008,"""Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord."" [ORCID:0000-0001-5889-4463]"
HP:0410009,"""Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements."" [ORCID:0000-0001-5889-4463]"
HP:0410010,"""Any abnormality of the somatic nerve plexus."" [ORCID:0000-0001-5889-4463]"
HP:0410011,"""Any abnormality of the masticatory muscle."" [ORCID:0000-0001-5208-3432]"
HP:0410012,"""Any abnormality of the mouth floor."" [ORCID:0000-0001-5208-3432]"
HP:0410013,"""Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery."" [https://www.dartmouth.edu/~humananatomy/part_8/chapter_49.html, ORCID:0000-0001-5208-3432]"
HP:0410014,"""An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system."" [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]"
HP:0410015,"""An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system."" [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]"
HP:0410016,"""An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium."" [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]"
HP:0410017,"""Inflammation or infection of the external auditory canal (EAC), the auricle, or both."" [http://search.medscape.com/search/?q=otitis%20externa, ORCID:0000-0001-5208-3432]"
HP:0410018,"""Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections."" [ORCID:0000-0001-5208-3432]"
HP:0410019,"""Pain that is localized to the region of the upper abdomen immediately below the ribs."" [https://www.healthgrades.com/symptoms/epigastric-pain, ORCID:0000-0001-5208-3432]"
HP:0410020,"""Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals."" [http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm]"
HP:0410021,"""Pungent body odor."" []"
HP:0410022,"""A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA)."" [PMID:16086821]"
HP:0410023,"""An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43."" [PMCID:PMC4785796]"
HP:0410026,"""Any abnormality of the periodontium."" []"
HP:0410027,"""A decrease in the amount of alveolar bone around the root of a tooth."" []"
HP:0410028,"""Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus."" []"
HP:0410030,"""A gap in the lip or lips."" []"
HP:0410031,"""Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth."" [http://www.cleftline.org/who-we-are/what-we-do/publications/submucous-clefts/]"
HP:0410033,"""One sided alveolar cleft of the maxilla."" []"
HP:0410034,"""Nonmidline alveolar cleft of the maxilla."" []"
HP:0410035,"""Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific."" []"
HP:0410042,"""Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage."" [MP:0000598]"
HP:0410043,"""Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)."" [MP:0002151]"
HP:0410049,Abnormal radial ray morphology
HP:0410050,"""A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues."" [PMID:16731998, PMID:17659063, PMID:9357814]"
HP:0410051,"""An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine."" [PMID:15505778, PMID:23705938]"
HP:0410052,"""An increase in the level of allantoin in the serum."" [PMID:18636793]"
HP:0410053,"""An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation."" [PMID:1485027, PMID:25485164]"
HP:0410054,"""A decrease in the level of GABA in the serum."" [PMID:1485027]"
HP:0410055,"""A decrease in the level of erythritol in the urine."" [PMID:14988808]"
HP:0410056,"""A decrease in the level of erythritol in the cerebrospinal fluid."" [PMID:14988808]"
HP:0410057,"""An increase in the level of D-threitol in the plasma."" [PMID:14988808]"
HP:0410058,"""An increase in the level of D-threitol in the cerebrospinal fluid."" [PMID:14988808]"
HP:0410059,"""An increase in the level of D-threitol in the urine."" [PMID:14988808]"
HP:0410060,"""A decrease in the level of D-mannose in the urine."" [PMID:2576290, PMID:29099052]"
HP:0410061,"""An increase in the level of galactitol in the plasma."" [PMID:11092512, PMID:7671965]"
HP:0410062,"""An increase in the level of galactitol in the urine."" [PMID:11092512, PMID:7671965]"
HP:0410063,"""An increase in the level of galactonate in the red blood cells."" [PMID:14680973]"
HP:0410064,"""An increase in the level of galactitol in the red blood cells."" [PMID:14680973]"
HP:0410065,"""An increase in the level of hippuric acid in the blood."" [PMID:22626821]"
HP:0410066,"""An increase in the level of hippuric acid in the urine."" [PMID:19551947, PMID:22626821]"
HP:0410067,"""An increase in the level of L-fucose in the urine."" [PMID:2311216]"
HP:0410068,"""An increase in the level of L-glutamic acid in the blood."" [PMID:7623444]"
HP:0410069,"""An increase in the level of propylene glycol in the blood."" [PMID:3426740]"
HP:0410070,"""An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose."" [PMID:14988808, PMID:26054712]"
HP:0410071,"""An increase in the level of ribitol in the cerebral spinal fluid."" [PMID:14988808]"
HP:0410072,"""An increase in the level of ribose in the urine."" [PMID:14988808]"
HP:0410073,"""An increase in the level of ribose in the cerebrospinal fluid."" [PMID:14988808]"
HP:0410074,"""An increase in the level of xylitol in the urine."" [PMID:14988808]"
HP:0410075,"""An increase in the level of xylitol in the cerebrospinal fluid."" [PMID:14988808]"
HP:0410132,"""An increase in the level of L-pyroglutamic acid in the urine."" [PMID:10094443, PMID:4557757]"
HP:0410133,"""Urticaria characterized by spontaneously recurring hives for 6 weeks or longer."" [PMID:25807072]"
HP:0410134,"""Urticaria caused by physical agents, such as heat, cold, light, friction."" [PMID:11702618]"
HP:0410135,"""Urticaria may be caused by cold temperatures."" [PMID:11702618]"
HP:0410136,"""A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin."" [PMID:22346281]"
HP:0410137,"""Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light."" [PMID:29315482]"
HP:0410138,"""Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum."" [PMID:26841242]"
HP:0410139,"""Anaphylaxis after physical activity."" [PMID:7400473]"
HP:0410144,"""An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation."" [PMID:29359854]"
HP:0410145,"""A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation."" [PMID:29359854]"
HP:0410146,"""An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation."" [PMID:29359854]"
HP:0410147,"""Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia."" [orcid.org/0000-0001-5208-3432, PMID:23904840]"
HP:0410148,"""A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment."" [PMID:28890861]"
HP:0410149,"""A form of anaphylaxis that is triggered by intake of drugs or medications."" [PMID:29135486]"
HP:0410151,"""Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus."" [PMID:27158535]"
HP:0410152,"""The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques."" [PMID:27158535]"
HP:0410153,"""An increase in the level of methylsuccinic acid in the urine."" [PMID:16828325, PMID:19343532, PMID:3571488, PMID:6616873]"
HP:0410154,"""An increase in the level of myristic acid in the serum."" [PMID:22024767]"
HP:0410156,"""An increase in the level of N-acetylneuraminic acid in the urine."" [PMID:7398077]"
HP:0410157,"""An increase in the level of N-acetylneuraminic acid in cultured fibroblasts."" [PMID:11992753]"
HP:0410166,"""A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication."" [GO:0036297, PMID:16464006, PMID:22064477]"
HP:0410167,"""Any abnormality of the chest muscles."" []"
HP:0410168,"""Any abnormality of the back muscles."" []"
HP:0410169,"""Any abnormality of the shoulder muscles."" []"
HP:0410170,"""Partial or complete wasting (loss) of hippocampus tissue that was once present."" []"
HP:0410171,"""Increased concentration of cotinine in urine."" []"
HP:0410172,"""The presence of a xenobiotic in blood."" []"
HP:0410173,"""An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction."" []"
HP:0410174,"""An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction."" [PMID:15452153]"
HP:0410175,"""An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood."" [PMID:27036365]"
HP:0410176,"""An anomaly in the level of glucose-6-phosphate dehydrogenase."" []"
HP:0410177,"""An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood."" [PMID:24787449]"
HP:0410178,"""An increase in the level of glucose-6-phosphate dehydrogenase in the blood."" []"
HP:0410179,"""A decrease in the level of glucose-6-phosphate dehydrogenase in the blood."" [PMID:24787449]"
HP:0410180,"""An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot."" [PMID:28479150]"
HP:0410181,"""An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot."" [PMID:28479150]"
HP:0410182,"""A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot."" [PMID:28479150]"
HP:0410183,"""An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes."" [https://doi.org/10.1016/B978-0-12-383834-6.00086-0]"
HP:0410184,"""An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells."" [PMID:18942156]"
HP:0410185,"""An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue."" []"
HP:0410186,"""An increase in the level of glucose-6-phosphate dehydrogenase in tissue."" []"
HP:0410187,"""A decrease in the level of glucose-6-phosphate dehydrogenase in tissue."" []"
HP:0410188,"""A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells."" [PMID:18942156]"
HP:0410189,"""An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells."" []"
HP:0410190,"""A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes."" [https://doi.org/10.1016/B978-0-12-383834-6.00086-0]"
HP:0410191,"""An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes."" []"
HP:0410192,"""An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose."" []"
HP:0410193,"""An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose."" []"
HP:0410194,"""An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose."" []"
HP:0410195,"""A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose."" []"
HP:0410196,"""An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose."" []"
HP:0410197,"""An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose."" []"
HP:0410198,"""A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose."" []"
HP:0410199,"""Increased concentration of urate in the cerebrospinal fluid."" []"
HP:0410200,"""Detection of barbiturate metabolites such as phenobarbital in meconium."" []"
HP:0410201,"""Detection of barbiturate metabolites such as phenobarbital in the hair."" []"
HP:0410202,"""Detection of barbiturate metabolites such as phenobarbital in the stool."" []"
HP:0410203,"""Detection of barbiturate metabolites such as phenobarbital in the gastric fluid."" []"
HP:0410204,"""An increase in the length of time required for food to pass through the intestines."" [PMID:22206545]"
HP:0410205,"""Any deviation from the normal concentration of nicotinurate in the blood."" []"
HP:0410206,"""An increased amount of nicotinurate in the blood."" []"
HP:0410207,"""Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum."" []"
HP:0410208,"""Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum."" [PMID:10027825]"
HP:0410209,"""A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid."" [PMID:15581159]"
HP:0410210,"""An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level."" [PMID:7926229]"
HP:0410211,Abnormal blood gas level in cord blood
HP:0410212,"""An abnormally high level of blood oxygen in the cord blood."" []"
HP:0410213,"""An abnormally low level of blood oxygen in the cord blood."" []"
HP:0410214,"""Abnormally elevated blood carbon dioxide (CO2) level in the cord blood."" []"
HP:0410215,"""Abnormally decreased blood carbon dioxide (CO2) level in the cord blood."" []"
HP:0410216,"""An abnormal concentration of 5-methyltetrahydrofolate in the blood."" []"
HP:0410217,"""A decreased concentration of 5-methyltetrahydrofolate in the blood."" []"
HP:0410218,"""Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw)."" [https://orcid.org/0000-0001-5889-4463, https://www.researchgate.net/publication/277918795_Nonsyndromic_oligodontia_A_rare_case_report]"
HP:0410219,"""Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw)."" [https://orcid.org/0000-0001-5889-4463]"
HP:0410220,"""Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products."" [PMID:26433529]"
HP:0410221,"""Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine."" [PMID:8543754]"
HP:0410222,"""Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone."" [PMID:14719162]"
HP:0410223,"""Increased level of IgE antibody against dust mites, such as house dust mites."" [https://www.atsjournals.org/doi/abs/10.1164/arrd.1982.125.1.80]"
HP:0410224,"""Increased level of IgE antibody against bacteria."" []"
HP:0410225,"""Increased level of IgE antibody against a drug or class of drugs, such as antibiotics."" [PMID:7835691]"
HP:0410226,"""Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers."" [PMID:9534914]"
HP:0410227,"""Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish."" [PMID:23229594]"
HP:0410228,"""Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits."" [PMID:26549334]"
HP:0410229,"""Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye."" [PMID:25788950]"
HP:0410230,"""Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds."" [PMID:12915766, PMID:23229594]"
HP:0410231,"""Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid."" [PMID:11591198]"
HP:0410232,"""Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota."" [PMID:12402012]"
HP:0410233,"""Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken."" [PMID:30182427]"
HP:0410234,"""Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii."" [https://doi.org/10.1007/s40475-015-0058-7]"
HP:0410235,"""Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches."" [PMID:21913205]"
HP:0410236,"""Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets."" [PMID:21913205]"
HP:0410238,"""Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen."" []"
HP:0410239,"""Detection of norcotinine, a metabolite of nicotine, in urine."" []"
HP:0410240,"""An abnormal deviation from normal levels of IgA immunoglobulin in blood."" []"
HP:0410241,"""An abnormal deviation from normal levels of IgE immunoglobulin in blood."" []"
HP:0410242,"""An abnormal deviation from normal levels of IgG immunoglobulin in blood."" []"
HP:0410243,"""An abnormal deviation from normal levels of IgM immunoglobulin in blood."" []"
HP:0410244,"""An abnormal deviation from normal levels of IgD immunoglobulin in blood."" []"
HP:0410245,"""An abnormally decreased level of immunoglobulin D (IgD) in blood."" []"
HP:0410246,"""An abnormally increased level of immunoglobulin D in blood."" []"
HP:0410247,"""Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats."" []"
HP:0410248,"""Increased level of IgE antibody against house dust mites, a common allergen."" []"
HP:0410249,"""Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat."" [PMID:29986992]"
HP:0410251,"""An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection."" [PMID:8614468]"
HP:0410252,"""Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months."" [PMID:23953336]"
HP:0410253,"""Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow."" [PMID:23233578]"
HP:0410254,"""Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow."" [PMID:23233578]"
HP:0410255,"""A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity."" [PMID:23953336]"
HP:0410256,"""Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan."" [PMID:23953336]"
HP:0410257,"""An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus."" [PMID:27543669]"
HP:0410258,"""An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders."" [PMID:24050624]"
HP:0410259,"""Fusion of the liver with the lung."" [PMID:28196822]"
HP:0410260,"""The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg."" [PMID:29701087]"
HP:0410261,"""A widely spaced gap between the fourth toe and the fifth (pinky) toe."" []"
HP:0410262,"""A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves."" [PMID:26167022]"
HP:0410263,"""An anomaly of metabolism or structure of the brain identified by imaging."" []"
HP:0410264,"""A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway."" [PMID:30174006]"
HP:0410265,"""A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords."" [PMID:16866116]"
HP:0410266,"""A hemangioma arising from within visceral structures, the internal organs of the body."" [https://doi.org/10.1016/j.epsc.2014.06.004]"
HP:0410267,"""A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel."" [https://orcid.org/0000-0001-5208-3432]"
HP:0410268,"""A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen."" [PMID:11307096]"
HP:0410269,"""A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip."" [http://www.jpss.eu/index.php/current-issue/item/457-forty-four-cases-of-labial-hemangioma-therapeutic-management]"
HP:0410270,"""A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus."" [PMID:10626176]"
HP:0410271,"""A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions."" [PMID:28419860]"
HP:0410272,"""A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva."" [PMID:29980161]"
HP:0410273,"""A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx."" [PMID:26011223, UBERON:0035619]"
HP:0410274,"""A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine."" [http://ispub.com/IJOS/11/1/8101#]"
HP:0410275,"""A spinal cord hemangioma located in the lumbosacral spine region."" [PMID:25449217]"
HP:0410276,"""An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button)."" [https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities, PMID:24075092]"
HP:0410277,"""A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum."" [https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities]"
HP:0410278,"""A fluid-filled sacs that develop on or near the pituitary gland."" [https://www.chop.edu/conditions-diseases/pituitary-cysts]"
HP:0410279,"""Partial or complete wasting (loss) of the pituitary gland."" [DOI:10.1530/endoabs.44.EP82]"
HP:0410280,"""Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset."" [ORCID:0000-0002-0843-4271]"
HP:0410281,"""A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur."" [PMID:23399526]"
HP:0410282,"""A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands."" [NCIT:C16284]"
HP:0410283,"""Detection of acetaminophen in the blood."" []"
HP:0410284,"""Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene."" [PubChem:18804]"
HP:0410285,"""Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium."" []"
HP:0410286,"""Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia."" [PubChem:23897]"
HP:0410287,"""A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region."" []"
HP:0410288,"""Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands."" []"
HP:0410289,"""Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands."" []"
HP:0410290,"""Detection of norpropoxyphene in urine."" []"
HP:0410291,"""Opposing or not responding to instructions or external stimuli."" [PMID:28754582, PMID:30262571]"
HP:0410292,"""An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person)."" []"
HP:0410293,"""Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person)."" [PMID:25309532]"
HP:0410294,"""A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination."" [PMID:26018535]"
HP:0410295,"""The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination."" []"
HP:0410296,"""The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination."" []"
HP:0410297,"""A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination."" []"
HP:0410298,"""A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination."" []"
HP:0410299,"""A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination."" [PMID:26018535]"
HP:0410300,"""The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination."" []"
HP:0410301,"""A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination."" []"
HP:0410302,"""A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination."" [PMID:26018535]"
HP:0410303,"""The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination."" []"
HP:0410304,"""The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination."" []"
HP:0410305,"""A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination."" []"
HP:0410306,"""A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination."" []"
HP:0410307,"""Detection of methadone and its metabolites in the stool."" []"
HP:0410308,"""A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection."" []"
HP:0410309,"""A increased concentration of alpha-aminoadipic acid in the urine."" [https://orcid.org/0000-0002-8169-9049, PMID:117247]"
HP:0410310,"""An abnormal form or size of neutrophils in the cerebrospinal fluid."" [https://orcid.org/0000-0002-8169-9049]"
HP:0410311,"""Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid."" [https://orcid.org/0000-0002-8169-9049]"
HP:0410312,"""An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid."" [https://orcid.org/0000-0002-8169-9049]"
HP:0410313,"""Abnormal concentration of 1-methylhistidine in the urine."" [https://orcid.org/0000-0002-8169-9049]"
HP:0410314,"""Decreased concentration of 1-methylhistidine in the urine."" [https://orcid.org/0000-0002-8169-9049]"
HP:0410315,"""Increased concentration of 1-methylhistidine in the urine."" [https://orcid.org/0000-0002-8169-9049]"
HP:0410316,"""Abnormal amount of 3-methylhistidine in the urine."" [https://orcid.org/0000-0002-8169-9049, PMID:6780020, PMID:6790901]"
HP:0410317,"""Increased concentration of 3-methylhistidine in the urine."" [https://orcid.org/0000-0002-8169-9049, PMID:6780020, PMID:6790901]"
HP:0410318,"""Decreased concentration of 3-methylhistidine in the urine."" [https://orcid.org/0000-0002-8169-9049, PMID:6790901]"
HP:0410319,"""Hypersensitivity in form of an adverse immune reaction against alpha-gal."" []"
HP:0410320,"""Hypersensitivity in form of an adverse immune reaction against animal proteins."" []"
HP:0410321,"""Hypersensitivity in form of an adverse immune reaction against animal dander."" []"
HP:0410322,"""Hypersensitivity in form of an adverse immune reaction against bacteria."" []"
HP:0410323,"""Hypersensitivity in form of an adverse immune reaction against drugs."" []"
HP:0410324,"""Hypersensitivity in form of an adverse immune reaction against dust mites."" []"
HP:0410325,"""Hypersensitivity in form of an adverse immune reaction against house dust mites."" []"
HP:0410326,"""Hypersensitivity in form of an adverse immune reaction against feathers."" []"
HP:0410327,"""Hypersensitivity in form of an adverse immune reaction against dairy."" []"
HP:0410328,"""Hypersensitivity in form of an adverse immune reaction against eggs."" []"
HP:0410329,"""Hypersensitivity in form of an adverse immune reaction against gluten."" []"
HP:0410330,"""Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products."" []"
HP:0410331,"""Hypersensitivity in form of an adverse immune reaction against nut food products."" []"
HP:0410332,"""Hypersensitivity in form of an adverse immune reaction against plant based food allergens."" []"
HP:0410333,"""Hypersensitivity in form of an adverse immune reaction against seafood."" []"
HP:0410334,"""Hypersensitivity in form of an adverse immune reaction against fungus."" []"
HP:0410335,"""Hypersensitivity in form of an adverse immune reaction against insects."" []"
HP:0410336,"""Hypersensitivity in form of an adverse immune reaction against insect venom."" []"
HP:0410337,"""Hypersensitivity in form of an adverse immune reaction against parasites."" []"
HP:0410338,"""Hypersensitivity in form of an adverse immune reaction against plant products."" []"
HP:0410339,"""Hypersensitivity in form of an adverse immune reaction against insect bites."" []"
HP:0410340,"""The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate."" [PMID:23204755]"
HP:0410341,"""An abnormal level of heparan sulfate in the blood."" [https://orcid.org/0000-0001-9969-8610]"
HP:0410342,"""An abnormal increase in the concentration of heparan sulfate in the blood."" [https://orcid.org/0000-0001-9969-8610, PMID:9692391]"
HP:0410343,"""An abnormal decrease in the concentration of heparan sulfate in the blood."" [https://orcid.org/0000-0001-9969-8610, PMID:23514715]"
HP:0410344,"""Decreased length of O-fucosylated glycans present on properdin."" [https://orcid.org/0000-0001-9969-8610, PMID:18199743]"
HP:0410345,"""An abnormal increase in the concentration of polyhexose in the urine."" [https://orcid.org/0000-0001-9969-8610, PMID:23676310]"
HP:0410346,"""An abnormal increase in the concentration of galactosylated oligosaccharides in urine."" [https://orcid.org/0000-0001-9969-8610, PMID:23676310]"
HP:0410347,"""An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine."" [https://orcid.org/0000-0001-9969-8610, PMID:23676310]"
HP:0410348,"""An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine."" [https://orcid.org/0000-0001-9969-8610, PMID:23676310]"
HP:0410349,"""An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level."" [https://orcid.org/0000-0001-9969-8610, PMID:16385447]"
HP:0410350,"""An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine."" [https://orcid.org/0000-0001-9969-8610, PMID:25251875]"
HP:0410351,"""An abnormal concentration of complex N-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610]"
HP:0410352,"""An abnormal increase in the concentration of complex N-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"
HP:0410353,"""An abnormal decrease in the concentration of complex N-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:21385794]"
HP:0410354,"""An abnormal increase in the concentration of sialylated N-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"
HP:0410355,"""An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:23430903]"
HP:0410356,"""An abnormal concentration of high-mannose N-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610]"
HP:0410357,"""An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:23928051]"
HP:0410358,"""An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"
HP:0410359,"""An abnormal in the concentration of core 1 O-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610]"
HP:0410360,"""An abnormal increase in the concentration of core 1 O-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:14578315]"
HP:0410361,"""An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"
HP:0410362,"""Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix."" [PMID:21930648]"
HP:0410363,"""An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:25142811]"
HP:0410364,"""An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"
HP:0410365,"""An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"
HP:0410366,"""An abnormal increase in the concentration of globoside Gb4."" [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"
HP:0410367,"""An abnormally increased level of immunoglobulin against hepatitis A virus in the blood."" []"
HP:0410368,"""An abnormal increase in the concentration of glycolipid globoside Gb3."" [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"
HP:0410369,"""An abnormally increased level of immunoglobulin against hepatitis B virus in the blood."" []"
HP:0410370,"""The absence of ganglioside GM3."" [https://orcid.org/0000-0001-9969-8610, PMID:24026681]"
HP:0410371,"""An abnormally increased level of immunoglobulin against hepatitis C virus in the blood."" []"
HP:0410372,"""An abnormal increase in the concentration of Tn antigen on glycoproteins."" [https://orcid.org/0000-0001-9969-8610, PMID:16251947]"
HP:0410373,"""Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells."" [PMID:22474485]"
HP:0410374,"""Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells."" [PMID:26700072]"
HP:0410375,Increased proportion of naive CD4 T cells
HP:0410376,"""An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells."" [PMID:26700072]"
HP:0410377,"""An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells."" [PMID:26700072]"
HP:0410378,"""An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells."" [PMID:22474485]"
HP:0410379,"""An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high."" [CL:0000897]"
HP:0410380,"""An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high."" [PMID:20146720, PMID:28481945]"
HP:0410381,"""An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:22343568]"
HP:0410383,"""An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:20146720, PMID:22343568]"
HP:0410384,"""An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:20146720, PMID:22343568]"
HP:0410385,"""Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high."" [PMID:20146720]"
HP:0410386,"""Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high."" [CL:0000897]"
HP:0410388,"""A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:22343568]"
HP:0410389,"""A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:20146720, PMID:22343568]"
HP:0410390,"""A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:20146720, PMID:22343568]"
HP:0410391,"""An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high."" [CL:0000897]"
HP:0410392,"""An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high."" [PMID:20146720]"
HP:0410393,"""An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:22343568]"
HP:0410394,"""An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:22343568]"
HP:0410395,"""An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:20146720, PMID:22343568]"
HP:0410396,"""An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative."" [PMID:20146720, PMID:22343568]"
HP:0410397,"""Saccular dilatation of the terminal bronchioles."" [ORCID:0000-0002-8169-9049, PMID:20037680]"
HP:0410399,"""Detection of lead in the blood."" []"
HP:0410400,"""Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts."" [MP:0000647]"
HP:0410401,"""Applies to a sign or symptom that is exacerbated in the evening as compared to the day."" [https://orcid.org/0000-0002-0736-9199]"
HP:0430000,"""An abnormality of the frontal bone."" [GOC:MG]"
HP:0430002,"""An abnormality of the lacrimal bone."" [GOC:MG]"
HP:0430003,"""An abnormality of the palatine bone."" [GOC:MG]"
HP:0430004,Frontomalar faciosynostosis
HP:0430005,"""An abnormality of the ethmoid bone"" [GOC:MG]"
HP:0430006,"""An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid."" [GOC:MG, http://www.eyecareforanimals.com/animal-eye-conditions/general/251-distichiasis-trichiasis-ectopic-cilia.html]"
HP:0430007,"""A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball."" [GOC:MG, http://en.wikipedia.org/wiki/Symblepharon]"
HP:0430008,"""The presence of more than the normal number of eyelids."" [GOC:MG]"
HP:0430009,"""Developmental hypoplasia of the eyelid."" [GOC:MG]"
HP:0430010,"""Abnormal shortness of the vertical dimensions of the eyelids."" [http://medical-dictionary.thefreedictionary.com/microblepharia]"
HP:0430011,"""An abnormality of the palpebral conjunctiva."" [GOC:MG]"
HP:0430012,"""Failure to complete ossification (maturation and calcification) of the palatine bone."" [GOC:MG]"
HP:0430013,"""Lack of formation of the palatine bone."" [GOC:MG]"
HP:0430014,"""An abnormality of one or more of the five muscles of the soft palate."" [ORCID:0000-0001-5889-4463]"
HP:0430015,"""An abnormality of any of the muscles of the pharynx."" [ORCID:0000-0001-5889-4463]"
HP:0430016,"""An abnormality of the tensor veli palatini muscle"" [ORCID:0000-0001-5889-4463]"
HP:0430017,"""An abnormality of the uvular muscle"" [ORCID:0000-0001-5889-4463]"
HP:0430018,"""An abnormality of the muscles of the structure of the nose."" [ORCID:0000-0001-5889-4463]"
HP:0430019,"""An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression."" [ORCID:0000-0001-5889-4463]"
HP:0430020,"""An abnormality of the levator labii superioris alaeque nasi muscle."" [ORCID:0000-0001-5889-4463]"
HP:0430021,"""An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery."" [ORCID:0000-0001-5889-4463]"
HP:0430022,"""An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone."" [ORCID:0000-0001-5889-4463]"
HP:0430023,"""An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity."" [ORCID:0000-0001-5889-4463]"
HP:0430024,"""An abnormality of an external jugular vein of the neck."" [ORCID:0000-0001-5889-4463]"
HP:0430025,"""Two-sided or bilateral weakness of the muscles of facial expression and eye closure."" [ORCID:0000-0001-5889-4463]"
HP:0430028,"""Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla."" []"
HP:0430029,"""An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures."" [ORCID:0000-0001-5889-4463]"
HP:0500001,"""A perceived unpleasant smell given off by the body."" [HPO:probinson]"
HP:0500005,"""Pain in and around the anus or rectum (perianal region)."" [http://www.mayoclinic.org/symptoms/anal-pain/basics/definition/sym-20050918]"
HP:0500006,"""Inflammation of the urethra."" [PMID:26220178]"
HP:0500007,"""Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris."" [PMID:27843899, PMID:7575269]"
HP:0500008,"""Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea."" [HPO:probinson]"
HP:0500009,"""It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum."" [PMID:11073535]"
HP:0500011,"""A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin."" [HPO:probinson]"
HP:0500012,"""A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH)."" [HPO:probinson]"
HP:0500013,"""Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion."" [HPO:probinson]"
HP:0500015,"""Abnormal test result of cardiovascular physiology."" []"
HP:0500016,"""Abnormal results of a MRI for the heart."" []"
HP:0500017,"""Abnormal results from the diagnostic tests resulting from cardiac catheterization."" []"
HP:0500018,"""Abnormal results of exercise on heart function."" []"
HP:0500019,"""Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2)."" [http://emedicine.medscape.com/article/2009552-overview]"
HP:0500020,"""Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes."" [https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=cardiac_biomarkers]"
HP:0500021,"""An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS)."" [ORCID:0000-0003-0169-8159, PMID:27388694]"
HP:0500022,"""A deviation from the normal concentration of dehydroepiandrosterone in the circulation."" [PMID:27979632]"
HP:0500023,"""Absence of shoulder muscles."" []"
HP:0500024,"""Absence of the musculature of the pelvis."" []"
HP:0500026,"""Underdevelopment of the musculature of the pelvis."" []"
HP:0500027,"""Congenital absence of the colon"" []"
HP:0500028,"""Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes."" [PMID:20460383]"
HP:0500030,"""Change in normal glycogen storage content."" [PMID:26835382]"
HP:0500031,"""An elevation in bone density in one or more carpal bones of the hand."" [PMID:21120491]"
HP:0500032,"""Abnormality of the structure and branching of the dendrites of a neuron."" [PMID:20404840]"
HP:0500033,"""Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells."" []"
HP:0500034,"""Blockage of the nasolacrimal sac."" [PMID:17203310]"
HP:0500035,"""A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac."" [PMID:13434546]"
HP:0500036,"""Benign tumor of the nasolacrimal sac."" [PMID:4352147]"
HP:0500037,"""The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac."" [PMID:16253035]"
HP:0500039,"""An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring."" [ORCID:0000-0003-0986-4123]"
HP:0500040,"""A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix."" [PMID:25586714]"
HP:0500041,"""A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest."" [https://www.aoa.org/]"
HP:0500042,"""A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye."" []"
HP:0500043,"""With the eyes in primary position, the sclera is visible above the superior corneal limbus."" [https://www.aao.org/bcscsnippetdetail.aspx?id=03ad3eb3-3445-4be2-9470-2c4845169b75, PMID:8719687]"
HP:0500044,"""An elevation of the eyelid above the normal level in the primary position."" [PMID:7735674]"
HP:0500045,"""A unilateral or bilateral eyelid retraction due to midbrain lesions."" [PMID:17323781]"
HP:0500046,"""Inflamation of the eyelid due to overactivity of the sebaceous gland."" [PMID:10777824]"
HP:0500047,"""A type of lymphoma that involves the nasolacrimal sac."" [ORCID:0000-0003-0986-4123, PMID:9392338]"
HP:0500048,"""A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period."" [PMID:11222337]"
HP:0500049,"""An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness."" [ISBN:978-3-319-52190-9, PMID:16009843]"
HP:0500050,"""The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina."" [ISBN:978-3-319-52190-9, PMID:16009843]"
HP:0500051,"""The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous."" [ISBN:978-3-319-52190-9]"
HP:0500052,"""The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina."" [ISBN:978-3-319-52190-9]"
HP:0500053,"""Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment."" [ISBN:978-3-319-52190-9]"
HP:0500054,"""A detachment that involves the peripheral retina that does not extend into the macula."" [ISBN:978-3-319-52190-9]"
HP:0500055,"""A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well."" [ISBN:978-3-319-52190-9]"
HP:0500056,"""Funnel detachment from the retina with generally traction in all four quadrants."" [ISBN:978-3-319-52190-9]"
HP:0500057,"""An open funnel detachment of the retina with generally traction in all four quadrants."" [ISBN:978-3-319-52190-9]"
HP:0500058,"""A closed funnel detachment of the retina with generally traction in all four quadrants."" [ISBN:978-3-319-52190-9]"
HP:0500059,"""Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula."" [ISBN:978-3-319-52190-9, PMID:16009843]"
HP:0500060,"""Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata."" [ISBN:978-3-319-52190-9, PMID:16009843]"
HP:0500061,"""Retinopathy which is a residual crescent of retina anterior to zone II."" [ISBN:978-3-319-52190-9, PMID:16009843]"
HP:0500062,"""Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye."" [PMID:16009843]"
HP:0500063,"""As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal."" [PMID:16009843]"
HP:0500064,"""A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease."" [ISBN:978-3-319-52190-9]"
HP:0500065,"""High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both."" [ISBN:978-3-319-52190-9]"
HP:0500066,"""The difference between total and manifest myopia."" [ORCID:0000-0003-0986-4123]"
HP:0500069,"""A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy."" [ISBN-13:9781416029076, ORCID:0000-0003-0986-4123]"
HP:0500070,"""A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus."" [ORCID:0000-0003-0986-4123]"
HP:0500072,"""Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation."" [ORCID:0000-0003-0986-4123]"
HP:0500073,"""Any deviation from the normal ocular alignment."" [ORCID:0000-0001-7941-2961]"
HP:0500074,"""An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering."" [ISBN-13:978-0199679980]"
HP:0500075,"""A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes."" [PMID:18427617]"
HP:0500076,"""A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards."" [ORCID:0000-0003-0986-4123]"
HP:0500077,"""A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards."" [ORCID:0000-0003-0986-4123]"
HP:0500078,"""A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards."" [ORCID:0000-0003-0986-4123]"
HP:0500079,"""A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards."" [ORCID:0000-0003-0986-4123]"
HP:0500081,"""The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL)."" [PMID:28358301]"
HP:0500086,"""Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas."" [PMID:24862768]"
HP:0500087,"""Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve."" [PMID:20920826]"
HP:0500088,"""Loss of pigment in the fovea centralis."" [PMID:24023426]"
HP:0500089,"""A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2."" [ISBN-13:978-0199552641]"
HP:0500090,"""A capillary hemangioma surrounding the eyeball but within the orbit."" [PMID:20616917]"
HP:0500091,"""A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage."" [ISBN-13:978-0199679980]"
HP:0500092,"""A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit."" []"
HP:0500093,"""Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods."" [PMID:27069254, PMID:27069841]"
HP:0500094,"""Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis."" [PMID:15327474]"
HP:0500095,"""Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food."" [PMID:16461139]"
HP:0500096,"""A form of anaphylaxis that is triggered by exposure to venom."" [PMID:21458655]"
HP:0500097,"""Presence of xenobiotic in stool."" []"
HP:0500098,"""Presence of a xenobiotic in meconium."" []"
HP:0500099,"""Presence of xenobiotic in hair."" []"
HP:0500100,"""Presence of a xenobiotic in plasma and/or serum."" []"
HP:0500101,"""Presence of a xenobiotic in gastric fluid."" []"
HP:0500104,"""Abnormal decrease in diastolic blood pressure."" [PMID:21947466]"
HP:0500105,"""Abnormal decrease in systolic blood pressure."" [PMID:21947466]"
HP:0500106,"""Elevated systolic blood pressure without an elevated blood pressure."" [PMID:21947466]"
HP:0500107,"""A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg)."" [PMID:21947466]"
HP:0500108,"""Detection of cocaine or its major metabolite, benzoylecgonine, in urine."" []"
HP:0500109,"""Detection of barbiturate metabolites such as Phenobarbital in urine."" [ORCID:0000-0001-7941-2961]"
HP:0500110,"""Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine."" []"
HP:0500111,"""Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine."" []"
HP:0500112,"""Detection of amphetamine or its metabolites in urine."" []"
HP:0500113,"""Detection of opioids or opioid metabolites in urine."" []"
HP:0500114,"""Abnormal concentration of urobilinogen present in the stool."" [ORCID:0000-0001-7941-2961]"
HP:0500115,"""An increased amount of urobilinogen present in the stool."" [ORCID:0000-0001-7941-2961]"
HP:0500116,"""Detection of barbiturate metabolites such as Phenobarbital in blood."" [ORCID:0000-0001-7941-2961]"
HP:0500117,"""Abnormal concentration of urate in the cerebrospinal fluid (CSF)."" [ORCID:0000-0001-7941-2961]"
HP:0500132,"""A decreased amount of valine in the blood."" [https://orcid.org/0000-0001-7941-2961]"
HP:0500133,"""An decreased concentration of tyrosine in the blood."" [https://orcid.org/0000-0001-7941-2961]"
HP:0500134,"""An increased amount of tryptophan in the blood."" [https://orcid.org/0000-0001-7941-2961]"
HP:0500135,"""A decreased amount of tryptophan in the blood."" [https://orcid.org/0000-0001-7941-2961]"
HP:0500136,"""A decreased amount of threonine in the blood."" [https://orcid.org/0000-0001-7941-2961]"
HP:0500138,"""An increased amount of serine in the blood."" []"
HP:0500139,"""A decreased amount of proline in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500140,"""A decreased amount of hydroxyproline in the blood."" [PMID:4690509]"
HP:0500141,"""A decreased amount of phenylalanine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500142,"""A decreased amount of lysine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500143,"""Decreased amount of leucine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500144,"""A decreased amount of isoleucine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500145,"""A decreased amount of histidine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500147,"""Decreased amount of glutamine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500148,"""Any deviation from the normal concentration of glutamate in the blood circulation."" []"
HP:0500149,"""An increased amount of glutamate in the blood."" [PMID:22949847]"
HP:0500150,"""A decreased amount of glutamate in the blood."" [PMID:22949847]"
HP:0500151,"""An increased amount of cystine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500152,"""A decreased amount of cystine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500153,"""An increased amount of arginine levels in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500154,"""A decreased amount of alanine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500155,"""Any deviation from the normal concentration of asparagine in the blood circulation."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500156,"""An increased amount of asparagine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500157,"""A decreased amount of asparagine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500158,"""Any deviation from the normal concentration of aspartate in the blood circulation."" [ORCID:0000-0001-7941-2961]"
HP:0500159,"""An increased concentration of aspartic acid in the blood circulation."" [PMID:7353275]"
HP:0500160,"""Any deviation from the normal concentration of carnosine in the blood circulation."" [ORCID:0000-0001-7941-2961, PMID:20017611]"
HP:0500161,"""An increased amount of carnosine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500162,"""A decreased amount of carnosine in bood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500163,"""An abnormal decrease in ornithine in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500164,"""An abnormality of carbon dioxide (CO2) in the arterial blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500165,"""An abnormality of the partial pressure of oxygen in the arterial blood."" [HPO:probinson]"
HP:0500166,"""An abnormal concentration of gastrin in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500167,"""An elevated amount of gastrin in the blood."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500170,"""An abnormal amount of acylcarnitine in the urine."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500173,"""A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure."" [PMID:23814085]"
HP:0500180,Abnormal circulating amino sulfonic acid concentration
HP:0500181,"""An increased amount of taurine in the blood."" []"
HP:0500182,"""A decreased amount of taurine in the blood."" []"
HP:0500183,"""Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid."" []"
HP:0500184,"""Any deviation from the normal concentration of amino acids in the cerebrospinal fluid."" [PMID:715764]"
HP:0500185,"""Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid."" [PMID:715764]"
HP:0500186,"""Any deviation from the normal concentration of valine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500187,"""Any increased amount from normal of valine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500188,"""Any decreased amount from normal of valine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500189,"""Any deviation from the normal concentration of leucine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500190,"""Abnormally decreased levels of leucine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500191,"""Abnormally increased levels of leucine in cerebrospinal fluid."" [PMID:715764]"
HP:0500192,"""Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500193,"""Abnormally increased levels of isoleucine in cerebrospinal fluid."" [PMID:715764]"
HP:0500194,"""Abnormally decreased levels of isoleucine in cerebrospinal fluid."" [PMID:715764]"
HP:0500195,"""Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid."" [PMID:715764]"
HP:0500196,"""Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid."" [PMID:715764]"
HP:0500197,"""Abnormally increased levels of glutamine in cerebrospinal fluid."" [PMID:715764]"
HP:0500198,"""Abnormally decreased levels of glutamine in cerebrospinal fluid."" [PMID:715764]"
HP:0500199,"""Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid."" [PMID:715764]"
HP:0500200,"""Abnormally increased levels of glutamic acid in cerebrospinal fluid."" [PMID:715764]"
HP:0500201,"""Abnormally decreased levels of glutamic acid in cerebrospinal fluid."" [PMID:715764]"
HP:0500202,"""Any deviation from the normal concentration of arginine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500203,"""Abnormally increased levels of arginine in cerebrospinal fluid."" [PMID:715764]"
HP:0500204,"""Abnormally decreased levels of arginine in cerebrospinal fluid."" [PMID:715764]"
HP:0500205,"""Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid."" [PMID:715764]"
HP:0500206,"""Any deviation from the normal concentration of lysine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500207,"""Abnormally decreased levels of lysine in cerebrospinal fluid."" [PMID:715764]"
HP:0500208,"""Abnormally increased levels of lysine in cerebrospinal fluid."" []"
HP:0500209,"""Any deviation from the normal concentration of methionine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500210,"""Abnormally increased levels of methionine in cerebrospinal fluid."" [PMID:715764]"
HP:0500211,"""Any deviation from the normal concentration of threonine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500212,"""Abnormally increased levels of threonine in cerebrospinal fluid."" [PMID:715764]"
HP:0500213,"""Abnormally decreased levels of threonine in cerebrospinal fluid."" [PMID:715764]"
HP:0500214,"""Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid."" [PMID:715764]"
HP:0500215,"""Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500216,"""Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid."" []"
HP:0500217,"""Abnormally increased levels of aspartic acid in cerebrospinal fluid."" [PMID:715764]"
HP:0500218,"""Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid."" [PMID:715764]"
HP:0500219,"""Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500220,"""Abnormally increased levels of tyrosine in cerebrospinal fluid."" [PMID:715764]"
HP:0500221,"""Abnormally decreased levels of tyrosine in cerebrospinal fluid."" [PMID:715764]"
HP:0500222,"""Abnormally increased levels of tryptophan in cerebrospinal fluid."" [PMID:715764]"
HP:0500223,"""Abnormally increased levels of phenylalanine in cerebrospinal fluid."" [PMID:715764]"
HP:0500224,"""Abnormally decreased levels of phenylalanine in cerebrospinal fluid."" [PMID:715764]"
HP:0500225,"""Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid."" [PMID:715764]"
HP:0500226,"""Any deviation from the normal concentration of serine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500227,"""Abnormally increased levels of serine in cerebrospinal fluid."" [PMID:715764]"
HP:0500228,"""Abnormally decreased levels of serine in cerebrospinal fluid."" [PMID:715764]"
HP:0500229,"""Any deviation from the normal concentration of glycine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500230,"""Abnormally increased levels of glycine in cerebrospinal fluid."" [PMID:715764]"
HP:0500231,"""Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid."" []"
HP:0500232,"""Any deviation from the normal concentration of alanine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500233,"""Abnormally increased levels of alanine in cerebrospinal fluid."" [PMID:715764]"
HP:0500234,"""Abnormally decreased levels of alanine in cerebrospinal fluid."" [PMID:715764]"
HP:0500235,"""Any deviation from the normal concentration of histidine in the cerebrospinal fluid."" [PMID:715764]"
HP:0500236,"""Abnormally increased levels of histidine in cerebrospinal fluid."" [PMID:715764]"
HP:0500237,"""Abnormally decreased levels of histidine in cerebrospinal fluid."" [PMID:715764]"
HP:0500238,"""Any deviation from the normal concentration of albumin in the cerebrospinal fluid."" [PMID:27067000]"
HP:0500239,Increased CSF albumin concentration
HP:0500240,"""Any deviation from the normal concentration of carnosine in the cerebrospinal fluid."" [PMID:16341596]"
HP:0500241,"""Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid."" [PMID:16341596]"
HP:0500242,"""Abnormally increased levels of homocarnosine in cerebrospinal fluid."" [PMID:16341596]"
HP:0500243,"""Any deviation from the normal concentration of ornithine in the cerebrospinal fluid."" [PMID:20551690]"
HP:0500244,"""Abnormally increased levels of ornithine in cerebrospinal fluid."" [PMID:20551690]"
HP:0500245,"""Any deviation from the normal concentration of citrulline in the cerebrospinal fluid."" [PMID:16793028]"
HP:0500246,"""Abnormally increased levels of citrulline in cerebrospinal fluid."" [PMID:16793028]"
HP:0500247,"""Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid."" [PMID:3397910]"
HP:0500248,"""Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid."" [PMID:3397910]"
HP:0500249,"""Any deviation from the normal concentration of ethanolamine in circulation."" [PMID:28785375]"
HP:0500250,"""Abnormally increased levels of ethanolamine in circulation."" [PMID:28785375]"
HP:0500251,"""Abnormal concentration of sebacic acid in the urine."" [PMID:25051233]"
HP:0500252,"""Elevated concentration of sebacic acid in the urine."" [PMID:25051233]"
HP:0500253,"""Elevated concentration of gamma-aminobutyric acid in the urine."" [PMID:11121859]"
HP:0500254,"""Abnormal concentration of hexanoylglycine in the urine."" [PMID:2775902]"
HP:0500255,"""Elevated concentration of hexanoylglycine in the urine."" [PMID:2775902]"
HP:0500256,"""Abnormal concentration of isobutyrylglycine in the urine."" [PMID:28053874]"
HP:0500257,"""Elevated concentration of isobutyrylglycine in the urine."" [PMID:28053874]"
HP:0500258,"""Abnormal amount of carbon dioxide in umbilical cord blood"" []"
HP:0500259,"""An abnormal level of blood oxygen in the cord blood."" []"
HP:0500260,"""Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma."" []"
HP:0500261,"""Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics."" []"
HP:0500262,"""The most dramatic and severe form of hair loss characterized by an absence of hair follicles."" [PMID:14676077]"
HP:0500263,"""Abnormal proportion of helper T cells relative to the total number of T cells."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500264,"""Increased proportion of helper T cells relative to the total number of T cells."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500265,"""An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative."" [PMID:15838378]"
HP:0500266,"""An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative."" [PMID:15838378]"
HP:0500267,"""An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count."" []"
HP:0500269,"""Abnormal proportion of gamma-delta T cells relative to the total number of T cells."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500270,"""Increased proportion of gamma-delta T cells relative to the total number of T cells."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500271,"""Decreased proportion of gamma-delta T cells relative to the total number of T cells."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500272,"""Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500273,"""Increased proportion of immature gamma-delta T cells relative to the total number of T cells."" [http://orcid.org/0000-0001-7941-2961]"
HP:0500274,"""Decreased proportion of immature gamma-delta T cells relative to the total number of T cells."" [http://orcid.org/0000-0001-7941-2961]"
HP:0550003,"""Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk."" [PMID:3954464, RGD:gthayman]"
HP:0550004,"""Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals."" [HPO:ucbasharo]"
HP:0550005,"""It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis."" [PMID:7378088, RGD:gthayman]"
HP:3000002,"""Any structural anomaly of an inner ear epithelium."" [GOC:TermGenie]"
HP:3000003,"""An abnormality of a mandibular ramus."" [GOC:TermGenie]"
HP:3000004,"""An abnormality of a frontalis muscle belly."" [GOC:TermGenie]"
HP:3000005,"""An abnormality of a masseter muscle."" [GOC:TermGenie]"
HP:3000006,"""An abnormality of a medial pterygoid muscle."" [GOC:TermGenie]"
HP:3000007,"""An abnormality of a mentalis muscle."" [GOC:TermGenie]"
HP:3000008,"""An abnormality of a mylohyoid muscle."" [GOC:TermGenie]"
HP:3000009,"""An abnormality of a nasalis muscle."" [GOC:TermGenie]"
HP:3000010,"""An abnormality of an orbicularis oris muscle."" [GOC:TermGenie]"
HP:3000011,"""An abnormality of a palatoglossus muscle."" [GOC:TermGenie]"
HP:3000012,"""An abnormality of a palatopharyngeus muscle."" [GOC:TermGenie]"
HP:3000013,"""An abnormality of the platysma muscle."" [GOC:TermGenie, ORCID:0000-0001-5889-4463]"
HP:3000014,"""An abnormality of a procerus."" [GOC:TermGenie]"
HP:3000015,"""An abnormality of a risorius muscle."" [GOC:TermGenie]"
HP:3000016,"""An abnormality of the styloglossus muscle."" [GOC:TermGenie, ORCID:0000-0001-5889-4463]"
HP:3000017,"""An abnormality of a temporalis muscle."" [GOC:TermGenie]"
HP:3000018,"""An abnormality of a zygomaticus major muscle."" [GOC:TermGenie]"
HP:3000019,"""An abnormality of a buccal mucosa."" [GOC:TermGenie]"
HP:3000020,"""An abnormality of a zygomaticus minor muscle."" [GOC:TermGenie]"
HP:3000021,"""An abnormality of a buccal fat pad."" [GOC:TermGenie]"
HP:3000022,"""An abnormality of a cartilage of external ear."" [GOC:TermGenie]"
HP:3000023,"""An abnormality of the angular artery, the terminal branch of the facial artery."" [GOC:TermGenie, ORCID:0000-0001-5889-4463]"
HP:3000024,"""Any structural abnormality of a facial artery, one of the branches of the external carotid artery."" [GOC:TermGenie, ORCID:0000-0001-5889-4463]"
HP:3000025,"""An abnormality of a ciliary ganglion."" [GOC:TermGenie]"
HP:3000027,"""An abnormality of a buccinator muscle."" [GOC:TermGenie]"
HP:3000028,"""An abnormality of a depressor anguli oris muscle."" [GOC:TermGenie]"
HP:3000029,"""An abnormality of a depressor labii inferioris."" [GOC:TermGenie]"
HP:3000030,"""An abnormality of an orbit of skull."" [GOC:TermGenie]"
HP:3000031,"""An abnormality of an anterior ethmoidal artery."" [GOC:TermGenie]"
HP:3000032,"""An abnormality of a central retinal artery."" [GOC:TermGenie]"
HP:3000033,"""Any abnormality of nasopharyngeal adenoids."" []"
HP:3000034,"""An abnormality of a cartilage of nasal septum."" [GOC:TermGenie]"
HP:3000035,"""Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck."" [ORCID:0000-0001-5889-4463]"
HP:3000036,"""An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head."" [GOC:TermGenie, ORCID:0000-0001-5889-4463]"
HP:3000037,"""An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck."" [GOC:TermGenie, ORCID:0000-0001-5889-4463]"
HP:3000038,"""Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx."" [GOC:TermGenie]"
HP:3000039,"""An abnormality of a dorsal nasal artery."" [GOC:TermGenie]"
HP:3000040,"""An abnormality of an ethmoid sinus."" [GOC:TermGenie]"
HP:3000041,"""An abnormality of an external carotid artery."" [GOC:TermGenie]"
HP:3000042,"""Any structural abnormality of a jugular vein."" [GOC:TermGenie]"
HP:3000043,"""An abnormality of a facial vein."" [GOC:TermGenie]"
HP:3000044,"""An abnormality of a frontal process of the maxilla bone."" [GOC:TermGenie, ORCID:0000-0001-5889-4463]"
HP:3000045,"""An abnormality of a genioglossus muscle."" [GOC:TermGenie]"
HP:3000046,"""An abnormality of a geniohyoid muscle."" [GOC:TermGenie]"
HP:3000047,"""Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX)."" [GOC:TermGenie]"
HP:3000048,"""Any structural anomaly of a great auricular nerve."" [GOC:TermGenie, PMID:26504711]"
HP:3000049,"""An abnormality of a greater palatine artery."" [GOC:TermGenie]"
HP:3000050,"""An abnormality of an odontoid tissue."" [GOC:TermGenie]"
HP:3000051,"""An abnormality of a hyoglossus muscle."" [GOC:TermGenie]"
HP:3000052,"""Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra."" [PMID:30969548]"
HP:3000053,"""A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus."" [GOC:TermGenie, HPO:probinson]"
HP:3000054,"""An abnormality of an inferior alveolar artery."" [GOC:TermGenie]"
HP:3000055,"""An abnormality of an inferior alveolar nerve."" [GOC:TermGenie]"
HP:3000056,"""An abnormality of an artery of lower lip."" [GOC:TermGenie]"
HP:3000057,"""An abnormality of an inferior oblique extraocular muscle."" [GOC:TermGenie]"
HP:3000058,"""An abnormality of an inferior rectus extraocular muscle."" [GOC:TermGenie]"
HP:3000059,"""An abnormality of an inferior thyroid vein."" [GOC:TermGenie]"
HP:3000060,"""An abnormality of an infraorbital artery."" [GOC:TermGenie]"
HP:3000061,"""A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal."" [GOC:TermGenie, PMID:26564432]"
HP:3000062,"""An abnormality of an internal carotid artery."" [GOC:TermGenie]"
HP:3000063,"""An abnormality of an internal jugular vein."" [GOC:TermGenie]"
HP:3000064,"""An abnormality of an intrinsic muscle of tongue."" [GOC:TermGenie]"
HP:3000065,"""An abnormality of a lacrimal artery."" [GOC:TermGenie]"
HP:3000066,"""An abnormality of a lacrimal sac."" [GOC:TermGenie]"
HP:3000067,"""Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway."" [GOC:TermGenie]"
HP:3000068,"""An abnormality of a lateral pterygoid muscle."" [GOC:TermGenie]"
HP:3000069,"""An abnormality of a lateral rectus extra-ocular muscle."" [GOC:TermGenie]"
HP:3000070,"""An abnormality of a levator anguli oris."" [GOC:TermGenie]"
HP:3000071,"""An abnormality of a levator labii superioris."" [GOC:TermGenie]"
HP:3000072,"""An abnormality of a levator palpebrae superioris."" [GOC:TermGenie]"
HP:3000073,"""An abnormality of a levator veli palatini."" [GOC:TermGenie]"
HP:3000074,"""Any structural abnormality of a lingual artery."" [GOC:TermGenie]"
HP:3000075,"""Any structural anomaly of a lingual nerve."" [GOC:TermGenie, PMID:27662622]"
HP:3000076,"""An abnormality of a lingual tonsil."" [GOC:TermGenie]"
HP:3000077,"""An abnormality of a mandible condylar process."" [GOC:TermGenie]"
HP:3000078,"""An abnormality of a mandible coronoid process."" [GOC:TermGenie]"
HP:3000079,"""A structural abnormality of a mandibular symphysis."" [GOC:TermGenie]"
HP:4000001,"""Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately."" []"
HP:4000003,"""Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema."" [PMID:18581348]"
HP:4000004,"""Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium."" [PMID:20704762]"
HP:4000005,"""Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium."" [PMID:21969014]"
HP:4000006,"""Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity."" [PMID:24617686]"
HP:4000007,"""Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath."" [PMID:26694039]"
HP:4000008,"""Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI."" [PMID:26550358, PMID:31704776]"
HP:4000009,"""An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury."" [PMID:29666064]"
HP:4000010,"""Decreased renal tubular reabsorption of bicarbonate."" [ORCID:0000-0002-2234-4248, PMID:31474092]"
HP:4000011,"""A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn."" [PMID:20300545]"
HP:4000012,Necrotizing ileitis
HP:4000013,"""The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule."" []"
HP:4000014,"""The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule."" []"
HP:4000015,"""The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions."" [PMID:24275244]"
HP:4000016,"""The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin."" [PMID:24275244]"
HP:4000017,"""The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1."" []"
HP:4000018,"""The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II."" []"
HP:4000019,"""The presence of autoantibodies (immunoglobulins) in the serum that react against BP230."" [PMID:32048350]"
HP:4000020,"""Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen."" [PMID:32048350]"
HP:4000021,"""The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332."" [PMID:21725315, PMID:24154702]"
HP:4000022,"""The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6."" []"
HP:4000023,"""The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1."" [PMID:24154702]"
HP:4000024,"""The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane."" []"
HP:4000025,"""The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth."" [PMID:33483531]"
HP:4000026,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6."" []"
HP:4000027,"""The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180."" []"
HP:4000028,"""The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion."" [PMID:11180014]"
HP:4000029,"""The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin."" [PMID:24052912]"
HP:4000030,"""The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin."" [PMID:23365209]"
HP:4000031,"""The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII."" [PMID:29619029]"
HP:4000032,"""A perception that one's body is moving or swaying despite lack of motion of the body."" [PMID:29443215]"
HP:4000033,"""A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving)."" [PMID:27083889, PMID:32986636]"
HP:4000034,"""Decreased lymphocyte count during infections."" [PMID:32569607]"
HP:4000035,"""Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction."" [PMID:23533926]"
HP:4000036,"""A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it."" [PMID:32644551]"
HP:4000037,"""Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through."" [PMID:32644551]"
HP:4000038,"""Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation."" [PMID:32644551]"
HP:4000039,"""A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count."" [PMID:32161190]"
HP:4000040,"""Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following."" []"
HP:4000041,"""Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant."" [ORCID:0000-0003-3411-9598, PMID:29261990]"
HP:4000042,"""Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110)."" []"
HP:4000043,"""A type of fracture in which the broken bone is not completely separated."" []"
HP:4000044,"""A type of fracture in which the break is in a straight line across the bone."" []"
HP:4000045,"""A type of fracture in which the break spirals around the bone."" []"
HP:4000046,"""A type of fracture in which there is a diagonal break across the bone."" []"
HP:4000047,"""A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance."" []"
HP:4000048,"""A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site."" []"
HP:4000049,"""A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone."" []"
HP:4000050,"""A type of fracture in which there is an open wound or break in the skin near the site of the broken bone."" []"
HP:4000051,"""A type of fracture in which the broken bone that does not penetrate the skin."" []"
HP:4000052,"""A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma."" []"
HP:4000053,"""A type of fracture in which the ends of the fractured bone are no longer aligned."" []"
HP:4000054,"""A widespread rash."" []"
HP:4000055,"""A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract."" [PMID:9897960]"
HP:4000056,"""Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response."" [PMID:11420279]"
HP:4000057,"""A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis."" [PMID:29617412]"
HP:4000058,"""A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. \nPMID: 19634399"" []"
HP:4000059,"""A structural defect associated with abnormal development of the lung."" []"
HP:4000060,Abnormal pulmonary alveolar system development
HP:4000061,"""A diffuse and specific increase in the number of alpha-cells."" [PMID:24285676]"
HP:4000062,"""A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers)."" [HPO:probinson, PMID:27698627]"
HP:4000066,"""Any structural anomaly of the iliac artery."" []"
HP:4000067,"""Abnormal outpouching or sac-like dilatation in the iliac artery."" [PMID:9685125]"
HP:4000068,"""Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something."" [ORCID:0000-0002-4422-1708]"
HP:4000069,"""A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car."" [ORCID:0000-0002-4422-1708, PMID:25030967]"
HP:4000070,"""Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests)."" [ISBN:0890425558, ORCID:0000-0002-4422-1708]"
HP:4000072,"""Any abnormal behavior related to communication with language."" []"
HP:4000073,"""A type of language impairment in which incorrect pronouns are used; i.e., using 'I' for 'you' and/or 'you' for 'I' (e.g., a child saying 'You want some more milk' meaning 'I want some more milk'). Reversal errors involve the person component, such that 'I' and 'you' become confused."" [ORCID:0000-0002-4422-1708, PMID:27103941]"
HP:4000074,"""Inappropriate use of words that have no phonological or semantic similarity to the intended word."" [ORCID:0000-0002-4422-1708, PMID:1864825]"
HP:4000075,"""A behavioral abnormality marked by reduced use of communicative facial expressions. This may include individuals with a reduced range of facial expressions or those with a full range but who use them at a decreased rate."" [ORCID:0000-0002-4422-1708, PMID:26803417]"
HP:4000076,"""Taking other people by the hand to places they wish them to move to or taking someone's hand to objects they want them to manipulate."" [ORCID:0000-0002-4422-1708, PMID:25388062]"
HP:4000077,"""A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners."" [ORCID:0000-0002-4422-1708, PMID:23880382]"
HP:4000078,"""An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person."" [ORCID:0000-0002-4422-1708, PMID:23880382]"
HP:4000079,"""Unusual interest in sensory aspects of the environment."" [ORCID:0000-0002-4422-1708, PMID:29112858]"
HP:4000080,"""Failure of a person to initiate social interactions with others. For a social interaction to have been initiated by someone, there must have been an absence of social interactions from either party for a period. The interaction must also be unprompted from another party."" [ORCID:0000-0002-4422-1708, PMID:18064552]"
HP:4000081,"""A diminished use of typical non-verbal conversational gestures such as shaing the head to indicate no or nodding the head to indicate yes."" [ORCID:0000-0002-4422-1708, PMID:21182208]"
HP:4000082,"""Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5."" [ORCID:0000-0002-4422-1708, PMID:25428293]"
HP:4000083,"""Lack of interest of an individual for peers of comparable age and social groups."" [ORCID:0000-0002-4422-1708]"
HP:4000084,"""Decreased sharing of interests with others."" [ORCID:0000-0002-4422-1708]"
HP:4000085,"""An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life."" [ORCID:0000-0002-4422-1708, PMID:26803417]"
HP:4000087,"""Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers) comprising abnormalities of quantity, range, context-appropriateness, and quality."" []"
HP:4000088,"""Production of facial expressions that are misaligned with the social context."" []"
HP:4000089,"""Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions."" []"
HP:4000090,"""Abnormality in use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture which replace or supplement verbal communication."" []"
HP:4000092,"""Reduced ability to conduct a reciprocal (back and forth) conversation characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable."" []"
HP:5000000,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5)."" [PMID:28062719, PMID:33843981]"
HP:5000001,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR)."" [PMID:25979696, PMID:29225271]"
HP:5000002,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin."" [PMID:20420178, PMID:27773907, PMID:31624089, PMID:32087460, PMID:33173498]"
HP:5000003,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26)."" [PMID:26298328, PMID:28601293, PMID:30158896]"
HP:5000004,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII)."" [PMID:23568983, PMID:26377085]"
HP:5000005,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2)."" [PMID:29561731, PMID:32651251, PMID:32783406]"
HP:5000006,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum."" [PMID:18931014, PMID:31656691, PMID:32110228]"
HP:5000007,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX)."" [PMID:27299786, PMID:28258082, PMID:32087460]"
HP:5000008,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3."" [PMID:33563795, PMID:33588772]"
HP:5000009,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R."" [PMID:28202703, PMID:30347219]"
HP:5000010,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R."" [PMID:32103919, PMID:32710704, PMID:32783406]"
HP:5000011,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65)."" [PMID:30343467, PMID:32087461, PMID:32123047]"
HP:5000012,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin."" [PMID:20420178, PMID:22270318, PMID:29561731]"
HP:5000013,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP)."" [PMID:28120349, PMID:30663514, PMID:32019875, PMID:32827972]"
HP:5000014,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR)."" [PMID:21242500, PMID:22215239, PMID:32087460, PMID:32585946]"
HP:5000015,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3."" [PMID:26377085]"
HP:5000016,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu."" [PMID:11344832, PMID:18931014, PMID:19015226, PMID:25764259, PMID:32851899]"
HP:5000017,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5)."" [PMID:27299786, PMID:28381508, PMID:30694925]"
HP:5000018,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1)."" [PMID:28203616]"
HP:5000019,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11)."" [PMID:31269365]"
HP:5000020,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1)."" [PMID:32710704, PMID:32783406]"
HP:5000021,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma."" [PMID:27460184, PMID:33070888]"
HP:5000022,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2."" [PMID:15179063, PMID:15215214, PMID:18223018, PMID:26664526, PMID:27460184, PMID:31044049, PMID:31454760]"
HP:5000023,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1."" [PMID:15179063, PMID:27460184]"
HP:5000024,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1)."" [PMID:26377085]"
HP:5000025,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5)."" [PMID:29703767]"
HP:5000026,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha."" [PMID:27170572, PMID:27170573, PMID:28840178]"
HP:5000027,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs)."" [PMID:18295972, PMID:18653248, PMID:21115345]"
HP:5000028,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B)."" [PMID:28074593, PMID:31801846]"
HP:5000029,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma."" [PMID:16801349]"
HP:5000030,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody."" [PMID:15179063, PMID:29332416, PMID:32170042]"
HP:5000031,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5."" [PMID:29998156]"
HP:5000032,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2)."" [PMID:33144342]"
HP:5000033,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells."" [PMID:19667272, PMID:32103919]"
HP:5000034,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr."" [PMID:15179063, PMID:25745634, PMID:26377319]"
HP:5000035,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46)."" [PMID:28904989]"
HP:5000036,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67."" [PMID:30350014]"
HP:5000037,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo."" [PMID:10980743, PMID:27606347]"
HP:5000038,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin."" [PMID:27235344, PMID:30918333, PMID:32830177]"
HP:5000039,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4)."" [PMID:29249374, PMID:29525731, PMID:31533147, PMID:32087460]"
HP:5000042,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor."" [PMID:23568983, PMID:26377085]"
HP:5000043,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor."" [PMID:27299786, PMID:32612568]"
HP:5000044,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2)."" [PMID:33949707]"
HP:5000046,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4)."" [PMID:32830177]"
HP:5000047,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor."" [PMID:30918333]"
HP:5000048,"""The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4."" [PMID:22167224, PMID:30918333]"