aaronwzl/gmdb_hpo_terms_mapping · Datasets at Hugging Face

hpo_id stringlengths 10 10	name stringlengths 4 97	definition stringlengths 0 1.16k
HP:0000003	Multicystic kidney dysplasia	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.
HP:0000009	Functional abnormality of the bladder	Dysfunction of the urinary bladder.
HP:0000010	Recurrent urinary tract infections	Repeated infections of the urinary tract.
HP:0000011	Neurogenic bladder	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.
HP:0000012	Urinary urgency	Urge incontinence is the strong, sudden need to urinate.
HP:0000013	Hypoplasia of the uterus	Underdevelopment of the uterus.
HP:0000015	Bladder diverticulum	Diverticulum (sac or pouch) in the wall of the urinary bladder.
HP:0000016	Urinary retention	Inability to completely empty the urinary bladder during the process of urination.
HP:0000020	Urinary incontinence	Loss of the ability to control the urinary bladder leading to involuntary urination.
HP:0000021	Megacystis	Dilatation of the bladder postnatally.
HP:0000023	Inguinal hernia	Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0000026	Male hypogonadism	Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.
HP:0000028	Cryptorchidism	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.
HP:0000029	Testicular atrophy	Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.
HP:0000032	Abnormal male external genitalia morphology	Any structural abnormality of male external genitalia.
HP:0000033	Ambiguous genitalia, male	Ambiguous genitalia in an individual with XY genetic gender.
HP:0000034	Hydrocele testis	Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
HP:0000035	Abnormal testis morphology	An anomaly of the testicle (the male gonad).
HP:0000039	Epispadias	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.
HP:0000040	Long penis	Penile length more than 2 SD above the mean for age.
HP:0000041	Chordee	A congenital anomaly of the penis characterized by ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees.
HP:0000044	Hypogonadotropic hypogonadism	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).
HP:0000046	Small scrotum	Apparently small scrotum for age.
HP:0000047	Hypospadias	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.
HP:0000048	Bifid scrotum	Midline indentation or cleft of the scrotum.
HP:0000049	Shawl scrotum	Superior margin of the scrotum superior to the base of the penis.
HP:0000050	Hypoplastic male external genitalia	Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).
HP:0000053	Macroorchidism	The presence of abnormally large testes.
HP:0000054	Micropenis	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.
HP:0000059	Hypoplastic labia majora	Undergrowth of the outer labia.
HP:0000060	Clitoral hypoplasia	Developmental hypoplasia of the clitoris.
HP:0000062	Ambiguous genitalia	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.
HP:0000064	Hypoplastic labia minora
HP:0000066	Labial hypoplasia
HP:0000069	Abnormality of the ureter	An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.
HP:0000070	Ureterocele	A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.
HP:0000071	Ureteral stenosis	The presence of a stenotic, i.e., constricted ureter.
HP:0000072	Hydroureter	The distention of the ureter with urine.
HP:0000074	Ureteropelvic junction obstruction	Blockage of urine flow from the renal pelvis to the proximal ureter.
HP:0000075	Renal duplication	A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.
HP:0000076	Vesicoureteral reflux	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.
HP:0000077	Abnormality of the kidney	An abnormality of the kidney.
HP:0000078	Abnormality of the genital system	An abnormality of the genital system.
HP:0000079	Abnormality of the urinary system	An abnormality of the urinary system.
HP:0000080	Abnormality of reproductive system physiology	An abnormal functionality of the genital system.
HP:0000081	Duplicated collecting system	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.
HP:0000083	Renal insufficiency	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.
HP:0000085	Horseshoe kidney	A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
HP:0000086	Ectopic kidney	A developmental defect in which a kidney is located in an abnormal anatomic position.
HP:0000089	Renal hypoplasia	Hypoplasia of the kidney.
HP:0000092	Renal tubular atrophy	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.
HP:0000093	Proteinuria	Increased levels of protein in the urine.
HP:0000097	Focal segmental glomerulosclerosis	Segmental accumulation of scar tissue in individual (but not all) glomeruli.
HP:0000098	Tall stature	A height above that which is expected according to age and gender norms.
HP:0000103	Polyuria	An increased rate of urine production.
HP:0000104	Renal agenesis	Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
HP:0000105	Enlarged kidney	An abnormal increase in the size of the kidney.
HP:0000107	Renal cyst	A fluid filled sac in the kidney.
HP:0000110	Renal dysplasia	The presence of developmental dysplasia of the kidney.
HP:0000113	Polycystic kidney dysplasia	The presence of multiple cysts in both kidneys.
HP:0000119	Abnormality of the genitourinary system	The presence of any abnormality of the genitourinary system.
HP:0000121	Nephrocalcinosis	Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
HP:0000122	Unilateral renal agenesis	A unilateral form of agenesis of the kidney.
HP:0000124	Renal tubular dysfunction	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	Pelvic kidney	A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.
HP:0000126	Hydronephrosis	Severe distention of the kidney with dilation of the renal pelvis and calices.
HP:0000130	Abnormality of the uterus	An abnormality of the uterus.
HP:0000131	Uterine leiomyoma	The presence of a leiomyoma of the uterus.
HP:0000132	Menorrhagia	Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
HP:0000135	Hypogonadism	A decreased functionality of the gonad.
HP:0000138	Ovarian cyst	The presence of one or more cysts of the ovary.
HP:0000139	Uterine prolapse	The presence of prolapse of the uterus.
HP:0000141	Amenorrhea	Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
HP:0000143	Rectovaginal fistula	The presence of a fistula between the vagina and the rectum.
HP:0000147	Polycystic ovaries
HP:0000152	Abnormality of head or neck	An abnormality of head and neck.
HP:0000154	Wide mouth	Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
HP:0000158	Macroglossia	Increased length and width of the tongue.
HP:0000160	Narrow mouth	Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0000161	Median cleft upper lip	A type of cleft lip presenting as a midline (median) gap in the upper lip.
HP:0000162	Glossoptosis	Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
HP:0000164	Abnormality of the dentition	Any abnormality of the teeth.
HP:0000168	Abnormality of the gingiva	Any abnormality of the gingiva (also known as gums).
HP:0000171	Microglossia	Decreased length and width of the tongue.
HP:0000174	Abnormal palate morphology	Any abnormality of the palate, i.e., of roof of the mouth.
HP:0000175	Cleft palate	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).
HP:0000176	Submucous cleft hard palate	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.
HP:0000177	Abnormal upper lip morphology	An abnormality of the upper lip.
HP:0000178	Abnormal lower lip morphology	An abnormality of the lower lip.
HP:0000179	Thick lower lip vermilion	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).
HP:0000180	Lobulated tongue	Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.
HP:0000182	Movement abnormality of the tongue
HP:0000185	Cleft soft palate	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.
HP:0000187	Broad alveolar ridges
HP:0000188	Short upper lip	Decreased width of the upper lip.
HP:0000189	Narrow palate	Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
HP:0000190	Abnormal oral frenulum morphology	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.
HP:0000191	Accessory oral frenulum	Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.
HP:0000193	Bifid uvula	Uvula separated into two parts most easily seen at the tip.
HP:0000194	Open mouth	A facial appearance characterized by a permanently or nearly permanently opened mouth.

HP:0000003

Multicystic kidney dysplasia

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.

HP:0000009

Functional abnormality of the bladder

Dysfunction of the urinary bladder.

HP:0000010

Recurrent urinary tract infections

Repeated infections of the urinary tract.

HP:0000011

Neurogenic bladder

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.

HP:0000012

Urinary urgency

Urge incontinence is the strong, sudden need to urinate.

HP:0000013

Hypoplasia of the uterus

Underdevelopment of the uterus.

HP:0000015

Bladder diverticulum

Diverticulum (sac or pouch) in the wall of the urinary bladder.

HP:0000016

Urinary retention

Inability to completely empty the urinary bladder during the process of urination.

HP:0000020

Urinary incontinence

Loss of the ability to control the urinary bladder leading to involuntary urination.

HP:0000021

Megacystis

Dilatation of the bladder postnatally.

HP:0000023

Inguinal hernia

Protrusion of the contents of the abdominal cavity through the inguinal canal.

HP:0000026

Male hypogonadism

Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.

HP:0000028

Cryptorchidism

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.

HP:0000029

Testicular atrophy

Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.

HP:0000032

Abnormal male external genitalia morphology

Any structural abnormality of male external genitalia.

HP:0000033

Ambiguous genitalia, male

Ambiguous genitalia in an individual with XY genetic gender.

HP:0000034

Hydrocele testis

Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.

HP:0000035

Abnormal testis morphology

An anomaly of the testicle (the male gonad).

HP:0000039

Epispadias

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.

HP:0000040

Long penis

Penile length more than 2 SD above the mean for age.

HP:0000041

Chordee

A congenital anomaly of the penis characterized by ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees.

HP:0000044

Hypogonadotropic hypogonadism

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).

HP:0000046

Small scrotum

Apparently small scrotum for age.

HP:0000047

Hypospadias

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.

HP:0000048

Bifid scrotum

Midline indentation or cleft of the scrotum.

HP:0000049

Shawl scrotum

Superior margin of the scrotum superior to the base of the penis.

HP:0000050

Hypoplastic male external genitalia

Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).

HP:0000053

Macroorchidism

The presence of abnormally large testes.

HP:0000054

Micropenis

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.

HP:0000059

Hypoplastic labia majora

Undergrowth of the outer labia.

HP:0000060

Clitoral hypoplasia

Developmental hypoplasia of the clitoris.

HP:0000062

Ambiguous genitalia

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.

HP:0000064

Hypoplastic labia minora

HP:0000066

Labial hypoplasia

HP:0000069

Abnormality of the ureter

An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.

HP:0000070

Ureterocele

A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.

HP:0000071

Ureteral stenosis

The presence of a stenotic, i.e., constricted ureter.

HP:0000072

Hydroureter

The distention of the ureter with urine.

HP:0000074

Ureteropelvic junction obstruction

Blockage of urine flow from the renal pelvis to the proximal ureter.

HP:0000075

Renal duplication

A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.

HP:0000076

Vesicoureteral reflux

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.

HP:0000077

Abnormality of the kidney

An abnormality of the kidney.

HP:0000078

Abnormality of the genital system

An abnormality of the genital system.

HP:0000079

Abnormality of the urinary system

An abnormality of the urinary system.

HP:0000080

Abnormality of reproductive system physiology

An abnormal functionality of the genital system.

HP:0000081

Duplicated collecting system

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.

HP:0000083

Renal insufficiency

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.

HP:0000085

Horseshoe kidney

A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.

HP:0000086

Ectopic kidney

A developmental defect in which a kidney is located in an abnormal anatomic position.

HP:0000089

Renal hypoplasia

Hypoplasia of the kidney.

HP:0000092

Renal tubular atrophy

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.

HP:0000093

Proteinuria

Increased levels of protein in the urine.

HP:0000097

Focal segmental glomerulosclerosis

Segmental accumulation of scar tissue in individual (but not all) glomeruli.

HP:0000098

Tall stature

A height above that which is expected according to age and gender norms.

HP:0000103

Polyuria

An increased rate of urine production.

HP:0000104

Renal agenesis

Agenesis, that is, failure of the kidney to develop during embryogenesis and development.

HP:0000105

Enlarged kidney

An abnormal increase in the size of the kidney.

HP:0000107

Renal cyst

A fluid filled sac in the kidney.

HP:0000110

Renal dysplasia

The presence of developmental dysplasia of the kidney.

HP:0000113

Polycystic kidney dysplasia

The presence of multiple cysts in both kidneys.

HP:0000119

Abnormality of the genitourinary system

The presence of any abnormality of the genitourinary system.

HP:0000121

Nephrocalcinosis

Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.

HP:0000122

Unilateral renal agenesis

A unilateral form of agenesis of the kidney.

HP:0000124

Renal tubular dysfunction

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

Pelvic kidney

A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.

HP:0000126

Hydronephrosis

Severe distention of the kidney with dilation of the renal pelvis and calices.

HP:0000130

Abnormality of the uterus

An abnormality of the uterus.

HP:0000131

Uterine leiomyoma

The presence of a leiomyoma of the uterus.

HP:0000132

Menorrhagia

Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.

HP:0000135

Hypogonadism

A decreased functionality of the gonad.

HP:0000138

Ovarian cyst

The presence of one or more cysts of the ovary.

HP:0000139

Uterine prolapse

The presence of prolapse of the uterus.

HP:0000141

Amenorrhea

Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.

HP:0000143

Rectovaginal fistula

The presence of a fistula between the vagina and the rectum.

HP:0000147

Polycystic ovaries

HP:0000152

Abnormality of head or neck

An abnormality of head and neck.

HP:0000154

Wide mouth

Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).

HP:0000158

Macroglossia

Increased length and width of the tongue.

HP:0000160

Narrow mouth

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).

HP:0000161

Median cleft upper lip

A type of cleft lip presenting as a midline (median) gap in the upper lip.

HP:0000162

Glossoptosis

Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.

HP:0000164

Abnormality of the dentition

Any abnormality of the teeth.

HP:0000168

Abnormality of the gingiva

Any abnormality of the gingiva (also known as gums).

HP:0000171

Microglossia

Decreased length and width of the tongue.

HP:0000174

Abnormal palate morphology

Any abnormality of the palate, i.e., of roof of the mouth.

HP:0000175

Cleft palate

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).

HP:0000176

Submucous cleft hard palate

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.

HP:0000177

Abnormal upper lip morphology

An abnormality of the upper lip.

HP:0000178

Abnormal lower lip morphology

An abnormality of the lower lip.

HP:0000179

Thick lower lip vermilion

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).

HP:0000180

Lobulated tongue

Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.

HP:0000182

Movement abnormality of the tongue

HP:0000185

Cleft soft palate

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.

HP:0000187

Broad alveolar ridges

HP:0000188

Short upper lip

Decreased width of the upper lip.

HP:0000189

Narrow palate

Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).

HP:0000190

Abnormal oral frenulum morphology

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.

HP:0000191

Accessory oral frenulum

Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.

HP:0000193

Bifid uvula

Uvula separated into two parts most easily seen at the tip.

HP:0000194

Open mouth

A facial appearance characterized by a permanently or nearly permanently opened mouth.