text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
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Torus mandibularis
Other namesTori mandibulares, mandibular torus, mandibular tori
Mandibular torus in premolar area
SpecialtyOral and Maxillofacial surgery
Torus mandibularis seen at axial CT and volume rendering.
Torus mandibularis is a bony growth in the mandible along the surface nearest to the tongue... | Torus mandibularis | c0266980 | 3,500 | wikipedia | https://en.wikipedia.org/wiki/Torus_mandibularis | 2021-01-18T19:02:17 | {"umls": ["C0266980", "C1184914"], "icd-9": ["526.81"], "icd-10": ["K10.0"], "wikidata": ["Q5644824"]} |
Cilio et al. (2000) reported a neonate who developed hyperglycemia, glycosuria, and moderate acidosis 12 hours after birth. Islet autoimmunity was indicated by the presence of autoantibodies to insulin and glutamic acid decarboxylase and was confirmed by the finding of marked lymphocytic infiltration in the pancreas ... | DIABETES MELLITUS, CONGENITAL AUTOIMMUNE | c1857958 | 3,501 | omim | https://www.omim.org/entry/605026 | 2019-09-22T16:11:37 | {"mesh": ["C565730"], "omim": ["605026"]} |
1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and n... | 1q21.1 microdeletion | c2675897 | 3,502 | medlineplus | https://medlineplus.gov/genetics/condition/1q211-microdeletion/ | 2021-01-27T08:25:40 | {"gard": ["10813"], "mesh": ["C567291"], "omim": ["612474"], "synonyms": []} |
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).
... | Intellectual disability-spasticity-ectrodactyly syndrome | c0796001 | 3,503 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1891 | 2021-01-23T18:34:11 | {"gard": ["3523"], "mesh": ["C537446"], "omim": ["246555"], "umls": ["C0796001"], "synonyms": ["Jancar syndrome"]} |
Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.
*[v]: View this template
*[t]: Discuss th... | Isolated hemihyperplasia | c0332890 | 3,504 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2128 | 2021-01-23T18:19:12 | {"gard": ["2630"], "omim": ["235000"], "umls": ["C0332890", "C1856184"], "icd-10": ["Q87.3"], "synonyms": ["Hemi 3 syndrome", "Hemicorporal hypertrophy", "Isolated hemihypertrophy"]} |
Ancylostomiasis
Other namesAnchylostomiasis, Ankylostomiasis
Infective larva of Necator americanus
SpecialtyTropical medicine, infectious disease, parasitology
Ancylostomiasis is a hookworm disease caused by infection with Ancylostoma hookworms. The name is derived from Greek ancylos αγκύλος "crooked, bent... | Ancylostomiasis | c0002831 | 3,505 | wikipedia | https://en.wikipedia.org/wiki/Ancylostomiasis | 2021-01-18T18:47:42 | {"mesh": ["C538433", "D000724"], "icd-9": ["126.0", "126.9"], "icd-10": ["B76.0"], "orphanet": ["78"], "wikidata": ["Q137597"]} |
Najjar et al. (1974) described a Lebanese family in which 5 of 6 brothers, aged 4 months to 10 years, had small external genitalia with particularly small testes. The parents were first cousins. The 3 brothers of the mother were unaffected. Except for the small external genitalia, the patients were clinically and chr... | TESTES, RUDIMENTARY | c1848901 | 3,506 | omim | https://www.omim.org/entry/273150 | 2019-09-22T16:21:56 | {"omim": ["273150"]} |
## Clinical Features
While most patients with cystic fibrosis (219700) suffer from pancreatic enzyme insufficiency, 10 to 15% of patients have a pancreatic-sufficient phenotype, which has been correlated with a group of mild CFTR (602421) mutations characterized by their ability to confer residual chloride-channel ... | CYSTIC FIBROSIS, MODIFIER OF, 1 | c1859047 | 3,507 | omim | https://www.omim.org/entry/603855 | 2019-09-22T16:12:35 | {"omim": ["603855"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-54 (IMD54) is caused by homozygous mutation in the MCM4 gene (602638) on chromosome 8q11.
Description
Immunodeficiency-54 is an autosomal recessive primary immunodeficiency characterized by severe intra- and extrauterine growth reta... | IMMUNODEFICIENCY 54 | c1864947 | 3,508 | omim | https://www.omim.org/entry/609981 | 2019-09-22T16:05:18 | {"mesh": ["C566492"], "omim": ["609981"], "orphanet": ["75391"], "synonyms": ["NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED", "Alternative titles", "NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT", "Primary immunodeficiency due to MCM4 deficiency"]} |
HDN due to anti-RhE alloimmunization
Other namesanti-RhE
SpecialtyPediatrics
Hemolytic disease of the newborn (anti-RhE) is caused by the anti-RhE antibody of the Rh blood group system. The anti-RhE antibody can be naturally occurring, or arise following immune sensitization after a blood transfusion or preg... | Hemolytic disease of the newborn (anti-RhE) | None | 3,509 | wikipedia | https://en.wikipedia.org/wiki/Hemolytic_disease_of_the_newborn_(anti-RhE) | 2021-01-18T18:30:19 | {"wikidata": ["Q17002920"]} |
A number sign (#) is used with this entry because of evidence that Charcot-Marie-Tooth disease type 2S (CMT2S) is caused by homozygous or compound heterozygous mutation in the IGHMBP2 gene (600502) on chromosome 11q13.
Biallelic mutation in the IGHMBP2 gene can also cause DSMA1 (604320), a more severe neurologic... | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S | c4015349 | 3,510 | omim | https://www.omim.org/entry/616155 | 2019-09-22T15:49:45 | {"doid": ["0110171"], "omim": ["616155"], "orphanet": ["443073"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S", "CMT2S", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S"]} |
Juberg and Touchstone (1974) described type 1 metatarsus varus in 9 persons in 4 generations with male-to-male transmission. Metatarsus varus is a malformation of the anterior foot that results in inward angulation. Type 1, the most common form, shows adduction of the anterior foot, high longitudinal arch, concavity ... | METATARSUS VARUS, TYPE I | c1834968 | 3,511 | omim | https://www.omim.org/entry/156520 | 2019-09-22T16:38:15 | {"mesh": ["C563585"], "omim": ["156520"]} |
A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular ... | Tubular aggregate myopathy | c0410207 | 3,512 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2593 | 2021-01-23T17:15:10 | {"gard": ["3884"], "mesh": ["D020914"], "omim": ["160565", "615883"], "umls": ["C0410207"], "icd-10": ["G71.2"]} |
Apraxia of speech (AOS) is an acquired oral motor speech disorder affecting an individual's ability to translate conscious speech plans into motor plans, which results in limited and difficult speech ability. By the definition of apraxia, AOS affects volitional (willful or purposeful) movement patterns, however AOS u... | Apraxia of speech | c0264611 | 3,513 | wikipedia | https://en.wikipedia.org/wiki/Apraxia_of_speech | 2021-01-18T18:34:59 | {"mesh": ["D001072"], "umls": ["C0264611"], "wikidata": ["Q1428145"]} |
Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and ri... | Hypophosphatasia | c1840322 | 3,514 | medlineplus | https://medlineplus.gov/genetics/condition/hypophosphatasia/ | 2021-01-27T08:25:28 | {"gard": ["8735", "6734"], "mesh": ["C564146"], "omim": ["146300", "241510", "241500"], "synonyms": []} |
Sertoli cell tumour
Micrograph of a Sertoli cell tumour. H&E stain.
SpecialtyOncology
A Sertoli cell tumour, also Sertoli cell tumor (US spelling), is a sex cord-gonadal stromal tumor of Sertoli cells. They can occur in the testis or ovary. They are very rare and generally peak between the ages of 35 and 50.... | Sertoli cell tumour | c0036769 | 3,515 | wikipedia | https://en.wikipedia.org/wiki/Sertoli_cell_tumour | 2021-01-18T18:32:51 | {"mesh": ["D012707"], "umls": ["C0036769"], "icd-9": ["256.1", "183.0"], "wikidata": ["Q4000421"]} |
Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or... | Adenosine deaminase deficiency | c1863239 | 3,516 | medlineplus | https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/ | 2021-01-27T08:24:41 | {"gard": ["5748"], "mesh": ["C531816"], "omim": ["102700"], "synonyms": []} |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome caused by haploinsufficiency of a number of genes.
Description
The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Mo... | CHROMOSOME 1p36 DELETION SYNDROME | c1842870 | 3,517 | omim | https://www.omim.org/entry/607872 | 2019-09-22T16:08:43 | {"doid": ["0060410"], "mesh": ["C535362"], "omim": ["607872"], "orphanet": ["1606"], "synonyms": ["Alternative titles", "MONOSOMY 1p36 SYNDROME"]} |
This article discusses a natural product. For the blog commonly known as Whale Oil, see Cameron Slater
A bottle of whale oil
Whale oil is oil obtained from the blubber of whales.[1] Whale oil from the bowhead whale was sometimes known as train oil, which comes from the Dutch word traan ("tear" or "drop").
Sperm oi... | Whale oil | None | 3,518 | wikipedia | https://en.wikipedia.org/wiki/Whale_oil | 2021-01-18T19:08:35 | {"wikidata": ["Q1053334"]} |
A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have b... | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | c4225354 | 3,519 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=457279 | 2021-01-23T17:41:27 | {"omim": ["616355"]} |
A number sign (#) is used with this entry because this form of scapuloperoneal myopathy is caused by mutation in the MYH7 gene (160760). Another form (300695) is caused by mutation in the FHL1 gene (300163).
Clinical Features
Scapuloperoneal syndrome was initially described by Jules Broussard (1886) as 'une forme h... | SCAPULOPERONEAL MYOPATHY, MYH7-RELATED | c0751337 | 3,520 | omim | https://www.omim.org/entry/181430 | 2019-09-22T16:34:58 | {"doid": ["0060253"], "mesh": ["D020389"], "omim": ["181430"], "icd-10": ["G71.09"], "orphanet": ["437572"], "synonyms": ["SCAPULOPERONEAL MUSCULAR DYSTROPHY", "MYH7-related late-onset SPMD", "MYH7-related late-onset scapuloperoneal syndrome", "Alternative titles", "SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE"]} |
A number sign (#) is used with this entry because of evidence that Loeys-Dietz syndrome-5 (LDS5) is caused by heterozygous mutation in the TGFB3 gene (190230) on chromosome 14q24.
Description
Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presenta... | LOEYS-DIETZ SYNDROME 5 | c3810012 | 3,521 | omim | https://www.omim.org/entry/615582 | 2019-09-22T15:51:36 | {"doid": ["0070236"], "omim": ["615582"], "orphanet": ["91387"], "synonyms": ["Alternative titles", "RIENHOFF SYNDROME", "Familial TAAD"], "genereviews": ["NBK1133"]} |
Cheiralgia paresthetica
Other namesWartenberg's syndrome
Radial nerve
SpecialtyNeurology
Cheiralgia paraesthetica (Wartenberg's syndrome) is a neuropathy of the hand generally caused by compression or trauma to the superficial branch of the radial nerve.[1][2] The area affected is typically on the back or ... | Cheiralgia paresthetica | c4305399 | 3,522 | wikipedia | https://en.wikipedia.org/wiki/Cheiralgia_paresthetica | 2021-01-18T19:03:27 | {"mesh": ["D020425"], "wikidata": ["Q699508"]} |
Focal facial dermal dysplasia
Other namesFFDD
SpecialtyDermatology
Focal facial dermal dysplasia is a rare genetically heterogeneous group of disorders that are characterized by congenital bilateral scar like facial lesions, with or without associated facial anomalies. It is characterized by hairless les... | Focal facial dermal dysplasia | c1744559 | 3,523 | wikipedia | https://en.wikipedia.org/wiki/Focal_facial_dermal_dysplasia | 2021-01-18T18:45:16 | {"gard": ["8416"], "mesh": ["C537068", "C536385"], "umls": ["C1744559"], "orphanet": ["398166"], "wikidata": ["Q5463849"]} |
This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is sim... | Urban-Rogers-Meyer syndrome | c0796189 | 3,524 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3409 | 2021-01-23T17:37:46 | {"gard": ["5426"], "mesh": ["C538276"], "omim": ["264010"], "umls": ["C0796189"], "icd-10": ["Q87.8"], "synonyms": ["Intellectual disability-short stature-hand contractures-genital anomalies syndrome", "Prader-Willi habitus-osteopenia-camptodactyly syndrome"]} |
Pattern hair loss
Other namesMale pattern baldness;
Female pattern baldness;
Androgenic alopecia;
Androgenetic alopecia
Male-pattern hair loss shown on the vertex of the scalp
SpecialtyDermatology, plastic surgery
Pattern hair loss is hair loss that primarily affects the top and front of the scalp.[1... | Pattern hair loss | c0162311 | 3,525 | wikipedia | https://en.wikipedia.org/wiki/Pattern_hair_loss | 2021-01-18T18:50:47 | {"gard": ["9269"], "mesh": ["D000505"], "umls": ["C0162311"], "icd-10": ["L64"], "wikidata": ["Q2276095"]} |
Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressiv... | Bietti crystalline corneoretinal dystrophy | c1859486 | 3,526 | gard | https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy | 2021-01-18T18:01:48 | {"mesh": ["C535440"], "omim": ["210370"], "umls": ["C1859486"], "orphanet": ["41751"], "synonyms": ["BCD", "Bietti tapetoretinal degeneration with marginal corneal dystrophy"]} |
Alezzandrini syndrome is a very rare syndrome characterized by retinitis pigmentosa (breakdown and loss of cells in the retina—which is the light sensitive tissue that lines the back of the eye), whitish patches in the skin (vitiligo) and whitening of eyebrow and eyelashes (poliosis) all on the same side of the face.... | Alezzandrini syndrome | c1274653 | 3,527 | gard | https://rarediseases.info.nih.gov/diseases/13023/alezzandrini-syndrome | 2021-01-18T18:02:12 | {"synonyms": []} |
Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) - the 'good cholesterol' - in the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Tangier disease is caused ... | Tangier disease | c0039292 | 3,528 | gard | https://rarediseases.info.nih.gov/diseases/7731/tangier-disease | 2021-01-18T17:57:26 | {"mesh": ["D013631"], "omim": ["205400"], "orphanet": ["31150"], "synonyms": ["High density lipoprotein deficiency, type 1", "HDLDT1", "High density lipoprotein deficiency, Tangier type", "Analphalipo-proteinemia", "Alpha high density lipoprotein deficiency disease", "A-alphalipoprotein neuropathy", "Cholesterol thesau... |
A number sign (#) is used with this entry because of evidence that congenital myasthenic syndrome associated with acetylcholine receptor (AChR) deficiency-2C (CMS2C) is caused by compound heterozygous mutation in the CHRNB1 gene (100710) on chromosome 17p13. One such family has been reported.
Mutation in the CHRNB1 ... | MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | c0751882 | 3,529 | omim | https://www.omim.org/entry/616314 | 2019-09-22T15:49:13 | {"doid": ["0110680"], "mesh": ["D020294"], "omim": ["616314"], "orphanet": ["98913", "590"], "synonyms": [], "genereviews": ["NBK1168"]} |
Ludwig's angina
Other namesAngina Ludovici
Swelling in the submandibular area in a person with Ludwig's angina.
SpecialtyOtorhinolaryngology, oral and maxillofacial surgery
SymptomsFever, pain, a raised tongue, trouble swallowing, neck swelling[1]
ComplicationsAirway compromise[1]
Usual onsetRapid[1]
Ri... | Ludwig's angina | c0024081 | 3,530 | wikipedia | https://en.wikipedia.org/wiki/Ludwig%27s_angina | 2021-01-18T18:52:16 | {"mesh": ["D008158"], "umls": ["C0024081"], "icd-9": ["528.3"], "icd-10": ["K12.2"], "wikidata": ["Q592804"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-44 (MRD44) is caused by heterozygous mutation in the TRIO gene (601893) on chromosome 5p15.
Description
Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulti... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 | c4310740 | 3,531 | omim | https://www.omim.org/entry/617061 | 2019-09-22T15:47:11 | {"doid": ["0070074"], "omim": ["617061"], "orphanet": ["476126"], "synonyms": [], "genereviews": ["NBK447257"]} |
Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomoto... | Blepharophimosis-intellectual disability syndrome, Verloes type | c1858538 | 3,532 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293725 | 2021-01-23T18:46:48 | {"mesh": ["C565797"], "omim": ["604314"], "umls": ["C1858538"], "icd-10": ["Q87.8"], "synonyms": ["BMRS type V", "BMRS, Verloes type", "Blepharophimosis-intellectual disability syndrome type V"]} |
A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, c... | Acquired methemoglobinemia | c0271905 | 3,533 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=464453 | 2021-01-23T18:49:32 | {"icd-10": ["D74.8"], "synonyms": ["Drug-induced methemoglobinemia"]} |
Uveal cancer that has material basis in uvea pigment cells
Uveal melanoma
Other namesOcular melanoma
Iris melanoma
SpecialtyOncology
SymptomsA sensation of flashes or specks of dust (floaters); growing dark spot on the iris; change in the shape of the pupil; poor or blurry vision in one eye; loss of peripher... | Uveal melanoma | c0220633 | 3,534 | wikipedia | https://en.wikipedia.org/wiki/Uveal_melanoma | 2021-01-18T18:28:01 | {"mesh": ["C536494"], "umls": ["C0220633"], "orphanet": ["39044"], "wikidata": ["Q356372"]} |
Erythrokeratodermia variabilis et progressiva is a skin condition characterized by well-defined round or oval red scaly patches that may join together to form map-like patterns. Some patches are fixed, occurring most often on the outer surfaces of the arms and legs, while others are migratory - lasting for hours ... | Erythrokeratodermia variabilis et progressiva | c1851479 | 3,535 | gard | https://rarediseases.info.nih.gov/diseases/10923/erythrokeratodermia-variabilis-et-progressiva | 2021-01-18T18:00:39 | {"mesh": ["C536154"], "omim": ["133200"], "orphanet": ["308166"], "synonyms": ["Progressive symmetric erythrokeratodermia", "PSEK", "Erythrokeratodermia variabilis", "Darier-Gottron disease", "EKV", "Erythrokeratodermia, progressive symmetric", "Erythrokeratoderma variabilis progressiva", "EKVP", "Progressiva symmetric... |
Insulinoma, arising from the beta cells of the pancreatic islet, is the most common pancreatic endocrine tumor, accounting for 70% of this type. Although only about 10% of insulinomas are malignant, determination of malignancy in these tumors by histopathology is occasionally very difficult, making genetic markers th... | INSULINOMA TUMOR SUPPRESSOR GENE LOCUS | c1847015 | 3,536 | omim | https://www.omim.org/entry/606960 | 2019-09-22T16:09:48 | {"omim": ["606960"]} |
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.
*[v]: View this template
*[t]... | PARC syndrome | c1838256 | 3,537 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2825 | 2021-01-23T17:55:03 | {"gard": ["4223"], "mesh": ["C537174"], "omim": ["600331"], "umls": ["C1838256"], "icd-10": ["Q87.8"], "synonyms": ["Poikiloderma-alopecia-retrognathism-cleft palate syndrome"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (August 2018)
3-Hydroxyisobutyryl-CoA deacylase deficiency
Autosomal recessive pattern is the inheritance manner of this condition
SpecialtyMedical ge... | 3-Hydroxyisobutyryl-CoA deacylase deficiency | c0342738 | 3,538 | wikipedia | https://en.wikipedia.org/wiki/3-Hydroxyisobutyryl-CoA_deacylase_deficiency | 2021-01-18T18:56:42 | {"gard": ["13202"], "mesh": ["C562803"], "umls": ["C0342738"], "orphanet": ["88639"], "wikidata": ["Q2823334"]} |
Dead arm of grapevine
Common namesgrape canker
Eutypa dieback
Phomopsis leaf
Cane spot
Fruit rot disease
Eutypiosis
Causal agentsEutypa lata and Phomopsis viticola
HostsVine, Prunus, apples, pears, walnuts, pistachios
EPPO CodePHOPVI
DistributionAustralia, North America
Dead arm, sometime... | Dead arm of grapevine | None | 3,539 | wikipedia | https://en.wikipedia.org/wiki/Dead_arm_of_grapevine | 2021-01-18T18:38:09 | {"wikidata": ["Q1378999"]} |
A number sign (#) is used with this entry because factor H deficiency is caused by homozygous mutation in the gene encoding complement factor H (CFH; 134370) on chromosome 1q31. Heterozygous mutation carriers may show milder manifestations.
Description
Complement factor H deficiency (CFHD) can manifest as sever... | COMPLEMENT FACTOR H DEFICIENCY | c0268743 | 3,540 | omim | https://www.omim.org/entry/609814 | 2019-09-22T16:05:32 | {"mesh": ["D015432"], "omim": ["609814"], "orphanet": ["93571", "200421", "329918", "54370", "2134", "544472"], "synonyms": ["Alternative titles", "FACTOR H DEFICIENCY", "CFH DEFICIENCY"], "genereviews": ["NBK1425"]} |
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
## Epidemiology
So far, 24 cases have been reported. In Finland, IOSCA has a population carrier f... | Infantile-onset spinocerebellar ataxia | c1849096 | 3,541 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1186 | 2021-01-23T18:17:25 | {"gard": ["4062"], "mesh": ["C535523"], "omim": ["271245"], "umls": ["C1849096"], "icd-10": ["G11.1"], "synonyms": ["IOSCA", "Ohaha syndrome", "Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome"]} |
Radiologically isolated syndrome (RIS) is a clinical situation in which a person has white matter lesions suggestive of multiple sclerosis (MS), as shown on an MRI scan that was done for reasons unrelated to MS symptoms. The nerve lesions in these people show dissemination in space with an otherwise normal neurologic... | Radiologically isolated syndrome | c4324721 | 3,542 | wikipedia | https://en.wikipedia.org/wiki/Radiologically_isolated_syndrome | 2021-01-18T18:30:50 | {"umls": ["CL519501"], "wikidata": ["Q55631058"]} |
Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
## Clinical description
Like other forms of AAE it has a later onset than HAE (see this term) ... | Renin-angiotensin-aldosterone system-blocker-induced angioedema | c3806711 | 3,543 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100057 | 2021-01-23T18:55:57 | {"omim": ["300909"], "icd-10": ["T78.3"], "synonyms": ["ACE inhibitor-related acquired angioedema", "ACEI-related acquired angioedema", "Acquired angioedema with normal C1 inhibitor", "Acquired angioedema with normal C1INH", "RAAS-blocker-induced angioedema", "RAAS-blocker-induced angioneurotic edema", "RAE", "Renin-an... |
A number sign (#) is used with this entry because immunodeficiency-centromeric instability-facial anomalies syndrome-1 is caused by homozygous or compound heterozygous mutation in the gene encoding DNA methyltransferase-3B (DNMT3B; 602900) on chromosome 20q11.
Description
Immunodeficiency, centromeric instability, ... | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 | c0398788 | 3,544 | omim | https://www.omim.org/entry/242860 | 2019-09-22T16:26:22 | {"doid": ["0090008"], "mesh": ["C537362"], "omim": ["242860"], "orphanet": ["2268"], "synonyms": ["IMMUNODEFICIENCY SYNDROME, VARIABLE", "IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16", "Alternative titles", "Immunodeficiency-centromeric instability-facial anomalies syndrome", "C... |
Actinic keratosis
Other namesSolar keratosis, senile keratosis (SK)
Actinic keratosis seen on the back of the hands
SpecialtyDermatology
Actinic keratosis (AK), sometimes called solar keratosis or senile keratosis,[1][2] is a pre-cancerous[3] area of thick, scaly, or crusty skin.[4][5] Actinic keratosis is... | Actinic keratosis | c0022602 | 3,545 | wikipedia | https://en.wikipedia.org/wiki/Actinic_keratosis | 2021-01-18T18:39:33 | {"mesh": ["D055623"], "umls": ["C0022602"], "wikidata": ["Q422225"]} |
Morvan's syndrome
SpecialtyNeurology
SymptomsMorvan's fibrillary chorea
Morvan's syndrome is a rare, life-threatening autoimmune disease named after the nineteenth century French physician Augustin Marie Morvan. "La chorée fibrillaire" was first coined by Morvan in 1890 when describing patients with multiple... | Morvan's syndrome | c0751540 | 3,546 | wikipedia | https://en.wikipedia.org/wiki/Morvan%27s_syndrome | 2021-01-18T19:09:34 | {"gard": ["9766"], "mesh": ["D013595"], "umls": ["C0751540"], "icd-9": ["336.0"], "icd-10": ["G60.8"], "orphanet": ["83467"], "wikidata": ["Q2964544"]} |
Gorham's disease is a rare bone disorder characterized by bone loss (osteolysis), often associated abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. Symtoms may include pain, swelling, and increased risk of fracture. It may... | Gorham's disease | c0029438 | 3,547 | gard | https://rarediseases.info.nih.gov/diseases/6542/gorhams-disease | 2021-01-18T18:00:13 | {"mesh": ["D010015"], "omim": ["123880"], "umls": ["C0029438"], "orphanet": ["73"], "synonyms": ["Cystic angiomatosis of bone diffuse", "Gorham-Stout syndrome", "Gorham-Stout disease", "Osteolysis massive", "Vanishing bone disease"]} |
## Description
In humans and primates, NR1H5P is a pseudogene. However, in other mammals, it encodes a functional nuclear hormone receptor that appears to be involved in cholesterol biosynthesis (Otte et al., 2003).
Cloning and Expression
By database analysis, Otte et al. (2003) identified human NR1H5P, which the... | NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 5, PSEUDOGENE | None | 3,548 | omim | https://www.omim.org/entry/617386 | 2019-09-22T15:45:57 | {"omim": ["617386"], "synonyms": ["Alternative titles", "FARNESOID X-ACTIVATED RECEPTOR, BETA, PSEUDOGENE"]} |
Colorado tick fever
Other namesMountain tick fever, American tick fever, American mountain tick fever
SpecialtyInfectious disease
Colorado tick fever (CTF) is a viral infection (Coltivirus) transmitted from the bite of an infected Rocky Mountain wood tick (Dermacentor andersoni). It should not be confused wi... | Colorado tick fever | c0009400 | 3,549 | wikipedia | https://en.wikipedia.org/wiki/Colorado_tick_fever | 2021-01-18T19:00:38 | {"mesh": ["D003121"], "umls": ["C0009400"], "icd-9": ["066.1"], "orphanet": ["83595"], "wikidata": ["Q319315"]} |
Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to v... | Idiopathic macular telangiectasia type 1 | None | 3,550 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353344 | 2021-01-23T18:20:10 | {"icd-10": ["H35.5"], "synonyms": ["Aneurysmal telangiectasia", "Visible and exudative idiopathic juxtafoveolar retinal telangiectasis"]} |
## Clinical Features
Diphenylhydantoin is poorly excreted by the kidney. Removal from the body depends on its hydroxylation. Kutt et al. (1964) found a family in which 3 members had reduced ability to hydroxylate diphenylhydantoin. The proband, who developed toxicity on usual doses of the drug, showed accumulation ... | PHENYTOIN TOXICITY | c0149969 | 3,551 | omim | https://www.omim.org/entry/617955 | 2019-09-22T15:44:13 | {"omim": ["617955"], "icd-10": ["Q86.1"], "synonyms": ["Alternative titles", "ARENE OXIDE DETOXIFICATION DEFECT", "DIPHENYLHYDANTOIN, DEFECT IN HYDROXYLATION OF"]} |
A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).
## Epidemiology
This disorder has an estimated prevalence... | SYNGAP1-related developmental and epileptic encephalopathy | None | 3,552 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=544254 | 2021-01-23T16:53:30 | {"icd-10": ["G40.4"], "synonyms": ["SYNGAP1-related DEE"]} |
The topic of this article may not meet Wikipedia's general notability guideline. Please help to demonstrate the notability of the topic by citing reliable secondary sources that are independent of the topic and provide significant coverage of it beyond a mere trivial mention. If notability cannot be shown, the articl... | Neuropathia mucinosa cutanea | None | 3,553 | wikipedia | https://en.wikipedia.org/wiki/Neuropathia_mucinosa_cutanea | 2021-01-18T18:50:24 | {"wikidata": ["Q16901107"]} |
In 4 sibs (one named Nathalie) of a Dutch family reported by Cremers et al. (1975), deafness and cataract were associated with muscular atrophy, retardation in growth and sexual development, and electrocardiographic abnormalities. One was male and 3 female. One had Perthes disease and one had Scheuermann disease.... | NATHALIE SYNDROME | c1850626 | 3,554 | omim | https://www.omim.org/entry/255990 | 2019-09-22T16:24:27 | {"mesh": ["C538342"], "omim": ["255990"], "orphanet": ["2663"]} |
Brain ischemia
Other namesWatershed infarct
T1 MRI of an ischemic stroke in the brain without (left) and with (right) contrast.
SpecialtyNeurology
A watershed stroke is defined as a brain ischemia that is localized to the vulnerable border zones between the tissues supplied by the anterior, posterior and m... | Watershed stroke | None | 3,555 | wikipedia | https://en.wikipedia.org/wiki/Watershed_stroke | 2021-01-18T18:28:53 | {"wikidata": ["Q7974427"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (February 2017)
Nasal septal abscess
Nasal septum(normal)
SpecialtyENT surgery
Nasal septal abscess is a condition of the nasal septum[1] in ... | Nasal septal abscess | c0264264 | 3,556 | wikipedia | https://en.wikipedia.org/wiki/Nasal_septal_abscess | 2021-01-18T18:51:19 | {"icd-10": ["J34.0"], "wikidata": ["Q6966584"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).
Clinical Features
Valente et al. (2002) reported an Italian family in which 10 members in 3 consecutive generations had spastic paraplegia. Mean age of onset was 47 years (ran... | SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT | c1846685 | 3,557 | omim | https://www.omim.org/entry/607152 | 2019-09-22T16:09:34 | {"doid": ["0110772"], "mesh": ["C536856"], "omim": ["607152"], "orphanet": ["100999"]} |
## Clinical Features
Cumming et al. (1986) described a stillborn male infant, born at 27 weeks' gestation of an Egyptian couple related as first cousins once removed, who had bowed limbs, marked cervical lymphocele (a term the authors preferred to cystic hygroma), polycystic dysplasia of the kidneys, pancreas, and ... | CAMPOMELIA, CUMMING TYPE | c1859371 | 3,558 | omim | https://www.omim.org/entry/211890 | 2019-09-22T16:30:15 | {"mesh": ["C537966"], "omim": ["211890"], "orphanet": ["1318"], "synonyms": ["Alternative titles", "CERVICAL LYMPHOCELE WITH BOWED LONG BONES", "CUMMING SYNDROME"]} |
A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnorm... | SPONASTRIME dysplasia | c1300260 | 3,559 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93357 | 2021-01-23T16:59:18 | {"gard": ["4970"], "mesh": ["C535786"], "omim": ["271510"], "umls": ["C1300260"], "icd-10": ["Q77.7"], "synonyms": ["Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia", "Spondyloepimetaphyseal dysplasia, Sponastrime type"]} |
"CRSD" redirects here. For the Oracle Cluster Ready Services daemon (CRSd), see Oracle Clusterware. For the school district in Alaska, see Copper River School District.
Family of sleep disorders which affect the timing of sleep
Circadian rhythm sleep disorder
Other namesCircadian rhythm sleep-wake disorders
Spe... | Circadian rhythm sleep disorder | c0236811 | 3,560 | wikipedia | https://en.wikipedia.org/wiki/Circadian_rhythm_sleep_disorder | 2021-01-18T18:39:11 | {"mesh": ["D021081", "D020178"], "umls": ["C0236811"], "icd-9": ["780.55", "327.3"], "icd-10": ["G47.2"], "wikidata": ["Q2712607"]} |
Tietz syndrome is a rare condition characterized by hearing loss, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. People with Tietz syndrome are born with white hair and very pale skin b... | Tietz syndrome | c0391816 | 3,561 | gard | https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome | 2021-01-18T17:57:21 | {"mesh": ["C536919"], "omim": ["103500"], "umls": ["C0391816"], "orphanet": ["42665"], "synonyms": ["Albinism-deafness of Tietz", "Hypopigmentation/deafness of Tietz", "Tietz albinism-deafness syndrome"]} |
Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs.
Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms ... | Distal hereditary motor neuropathy, type II | c1834692 | 3,562 | medlineplus | https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-ii/ | 2021-01-27T08:24:55 | {"mesh": ["C563561"], "omim": ["158590", "608634"], "synonyms": []} |
Paraneoplastic syndromes are a group of rare disorders that include paraneoplastic cerebellar degeneration (PCD). Paraneoplastic syndromes are thought to result from an abnormal immune response to an underlying (and often undetected) malignant tumor. PCD is a rare, non-metastatic complication of cancer. PCD is typica... | Paraneoplastic cerebellar degeneration | c0393534 | 3,563 | gard | https://rarediseases.info.nih.gov/diseases/7326/paraneoplastic-cerebellar-degeneration | 2021-01-18T17:58:26 | {"mesh": ["D020362"], "umls": ["C0393534"], "synonyms": []} |
## Summary
### Clinical characteristics.
The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymp... | Dystrophinopathies | None | 3,564 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1119/ | 2021-01-18T21:29:45 | {"synonyms": []} |
A very rare, malignant, epithelial tumor of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usua... | Serous cystadenocarcinoma of pancreas | c1335315 | 3,565 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424073 | 2021-01-23T18:04:05 | {"umls": ["C1335315"], "icd-10": ["C25.0", "C25.1", "C25.2", "C25.7", "C25.8"], "synonyms": ["Pancreatic serous cystadenocarcinoma"]} |
A number sign (#) is used with this entry because autosomal recessive adult-onset spinal muscular atrophy type IV (SMA4) is caused by mutation or deletion in the SMN1 gene (600354) on chromosome 5q13.
Allelic disorders with overlapping phenotypes of differing severity and age at onset include SMA type I (253300), SM... | SPINAL MUSCULAR ATROPHY, TYPE IV | c1838230 | 3,566 | omim | https://www.omim.org/entry/271150 | 2019-09-22T16:22:12 | {"doid": ["0050529"], "mesh": ["C563948"], "omim": ["271150"], "icd-10": ["G12.1"], "orphanet": ["83420", "70"], "synonyms": ["Alternative titles", "SPINAL MUSCULAR ATROPHY, ADULT FORM", "SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL RECESSIVE"], "genereviews": ["NBK1352"]} |
Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.
*[v]: View this template
... | Idiopathic macular telangiectasia type 3 | None | 3,567 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353351 | 2021-01-23T18:27:45 | {"icd-10": ["H35.5"], "synonyms": ["Occlusive idiopathic juxtafoveolar retinal telangiectasis"]} |
Tooth ankylosis
SpecialtyDentistry
Tooth ankylosis is the pathological fusion between alveolar bone and the cementum of teeth, which is a rare phenomenon in the deciduous dentition and even more uncommon in permanent teeth.[1][2][3] Ankylosis occurs when partial root resorption is followed by repair with eithe... | Tooth ankylosis | c2931182 | 3,568 | wikipedia | https://en.wikipedia.org/wiki/Tooth_ankylosis | 2021-01-18T18:51:10 | {"gard": ["701"], "mesh": ["D020254", "C536375"], "umls": ["C2931182"], "orphanet": ["1077"], "wikidata": ["Q2188219"]} |
For other uses, see Shock.
Shock
Other namesCirculatory shock
Play media
Video explanation
SpecialtyCritical care medicine
SymptomsInitial: Weakness, fast heart rate, fast breathing, sweating, anxiety, increased thirst[1]
Later: Confusion, unconsciousness, cardiac arrest[1]
TypesLow volume, c... | Shock (circulatory) | c0036974 | 3,569 | wikipedia | https://en.wikipedia.org/wiki/Shock_(circulatory) | 2021-01-18T18:45:27 | {"mesh": ["D012769"], "icd-9": ["785.50"], "icd-10": ["R57"], "wikidata": ["Q178061"]} |
A number sign (#) is used with this entry because of evidence that frontonasal dysplasia-3 (FND3) is caused by homozygous mutation in the ALX1 gene (601527) on chromosome 12q21. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of frontonasal dyspla... | FRONTONASAL DYSPLASIA 3 | c3150706 | 3,570 | omim | https://www.omim.org/entry/613456 | 2019-09-22T15:58:36 | {"omim": ["613456"], "orphanet": ["306542"], "synonyms": ["ALX1-related frontonasal dysplasia", "Frontonasal dysplasia type 3"]} |
Pycnodysostosis impacts bone growth and is present from birth. Symptoms include a large head and high forehead, undeveloped facial bones, and short fingers and toes. People with pycnodysostosis may have short stature, dental abnormalities, brittle bones, and delayed closure of the skull bones. Bones may become more b... | Pycnodysostosis | c0238402 | 3,571 | gard | https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis | 2021-01-18T17:58:02 | {"mesh": ["D058631"], "omim": ["265800"], "umls": ["C0238402"], "orphanet": ["763"], "synonyms": ["Pyknodysostosis", "PKND", "PYCD"]} |
Organic personality disorder (OPD) is not included in the wide variety of group of personality disorders. For this reason, the symptoms and diagnostic criteria of the organic personality disorder are different from those of the mental health disorders, which are included in this various group of personality disorders... | Organic personality disorder | c0029233 | 3,572 | wikipedia | https://en.wikipedia.org/wiki/Organic_personality_disorder | 2021-01-18T18:47:49 | {"umls": ["C0029233"], "icd-10": ["F07.0"], "wikidata": ["Q3449191"]} |
A number sign (#) is used with this entry because of evidence that primary avascular necrosis of the femoral head-2 (ANFH2) is caused by heterozygous mutation in the TRPV4 gene (605427) on chromosome 12q24. One such family has been reported.
For a phenotypic description and discussion of genetic heterogeneity of... | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 | c0410480 | 3,573 | omim | https://www.omim.org/entry/617383 | 2019-09-22T15:46:04 | {"mesh": ["D005271"], "omim": ["608805", "617383"], "orphanet": ["86820"], "synonyms": ["Familial osteonecrosis of the femoral head"]} |
"Android porn" redirects here. For pornography on Android OS, see Mobile porn.
An Actroid manufactured by Kokoro Company Ltd.
Robot fetishism (also ASFR, technosexuality[1] and robophilia) is a fetishistic attraction to humanoid robots; also to people acting like robots or people dressed in robot costumes. A less c... | Robot fetishism | None | 3,574 | wikipedia | https://en.wikipedia.org/wiki/Robot_fetishism | 2021-01-18T18:28:27 | {"wikidata": ["Q623401"]} |
PHIP-related disorder, also known as Chung-Jansen syndrome, is a rare condition caused by a change in the pleckstrin homology domain-interacting protein (PHIP) gene. The most common signs and symptoms, include mild to severe learning problems, behavior problems, and a tendency toward being overweight. PHIP-relate... | PHIP-Related disorder | c4693860 | 3,575 | gard | https://rarediseases.info.nih.gov/diseases/13514/phip-related-disorder | 2021-01-18T17:58:20 | {"omim": ["617991"], "synonyms": ["Chung-Jansen syndrome", "CHUJANS", "Intellectual disability-overweight syndrome caused by PHIP haploinsufficiency", "Developmental delay, intellectual disability, obesity, and dysmorphism"]} |
A number sign (#) is used with this entry because of evidence that mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) is caused by homozygous mutation in the AP1S1 gene (603531) on chromosome 7q22.
Description
MEDNIK is a severe multisystem disorder characterized ... | MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA | c1836330 | 3,576 | omim | https://www.omim.org/entry/609313 | 2019-09-22T16:06:16 | {"doid": ["0060483"], "mesh": ["C563739"], "omim": ["609313"], "orphanet": ["171851"], "synonyms": ["Alternative titles", "ERYTHROKERATODERMIA VARIABILIS 3", "ERYTHROKERATODERMIA VARIABILIS, KAMOURASKA TYPE"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of hypophosphatemic rickets, see (193100).
Clinical Features
Brownstein et al. (2008) described a 23-year-old woman with hypophosphatemic rickets and hyperparathyroidism who presented at 13 months of age with a prominent forehead, large ... | HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM | c2677524 | 3,577 | omim | https://www.omim.org/entry/612089 | 2019-09-22T16:02:21 | {"mesh": ["C567423"], "omim": ["612089"]} |
"Phone phobia" redirects here. For the fear of loud sounds, see Phonophobia.
Telephone phobia (telephonophobia, telephobia, phone phobia) is reluctance or fear of making or taking phone calls, literally, "fear of telephones".[1] It is considered to be a type of social phobia or social anxiety.[1] It may be compared ... | Telephone phobia | None | 3,578 | wikipedia | https://en.wikipedia.org/wiki/Telephone_phobia | 2021-01-18T19:01:22 | {"wikidata": ["Q612851"]} |
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) is caused by heterozygous mutation in the GABBR2 gene (607340) on chromosome 9q22.
Description
NDPLHS is an autosomal dominant disorder characterized by developmental st... | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | c2748910 | 3,579 | omim | https://www.omim.org/entry/617903 | 2019-09-22T15:44:28 | {"mesh": ["C567576"], "omim": ["617903"], "orphanet": ["3095"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slow... | X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome | None | 3,580 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85317 | 2021-01-23T19:11:41 | {"icd-10": ["Q87.8"]} |
Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abn... | Kandori fleck retina | c0271257 | 3,581 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99179 | 2021-01-23T18:38:26 | {"mesh": ["C562701"], "omim": ["228990"], "umls": ["C0271257"], "icd-10": ["H35.5"]} |
Miliary tuberculosis
Other namesDisseminated tuberculosis, tuberculosis cutis acuta generalisata, tuberculosis cutis disseminata[1]
Chest X ray showing miliary tuberculosis
SpecialtyInfectious disease
Miliary tuberculosis is a form of tuberculosis that is characterized by a wide dissemination into the huma... | Miliary tuberculosis | c0041321 | 3,582 | wikipedia | https://en.wikipedia.org/wiki/Miliary_tuberculosis | 2021-01-18T18:56:41 | {"mesh": ["D014391"], "umls": ["C0041321"], "wikidata": ["Q17583"]} |
Late-life depression refers to a major depressive episode occurring for the first time in an older person (usually over 50 or 60 years of age). The term can also include depression that develops in an older person who suffered from the illness earlier in life.[1] Concurrent medical problems and lower functional e... | Late life depression | None | 3,583 | wikipedia | https://en.wikipedia.org/wiki/Late_life_depression | 2021-01-18T18:41:32 | {"wikidata": ["Q438896"]} |
A number sign (#) is used with this entry because the P1PK blood group system is determined by the A4GALT gene (607922) on chromosome 22q13.
A distinct, but related antigen, P, which belongs to the globoside (GLOB) system (615021), is defined by activity of the B3GALT3 gene (603094) on chromosome 3q25. B3GALT3 synth... | BLOOD GROUP, P1PK SYSTEM | c1292199 | 3,584 | omim | https://www.omim.org/entry/111400 | 2019-09-22T16:44:13 | {"omim": ["111400"]} |
Visual effect whose source is within the eye itself
For the archaeological term, see Entoptic phenomena (archaeology).
Entoptic phenomena (from Ancient Greek ἐντός "within" and ὀπτικός "visual") are visual effects whose source is within the eye itself. (Occasionally, these are called entopic phenomena, which is pro... | Entoptic phenomenon | c0042795 | 3,585 | wikipedia | https://en.wikipedia.org/wiki/Entoptic_phenomenon | 2021-01-18T18:42:20 | {"mesh": ["D014788"], "wikidata": ["Q2337182"]} |
Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiosto... | Primary hypertrophic osteoarthropathy | c0029411 | 3,586 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=248095 | 2021-01-23T18:20:17 | {"mesh": ["D010004"], "umls": ["C0029411"], "icd-10": ["M89.4"], "synonyms": ["Idiopathic hypertrophic osteoarthropathy", "PHO"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (July 2019)
Mendelian susceptibility to mycobacterial disease
Other namesMendelian susceptibility to atypical mycobacteria[1]
SpecialtyImmunology
... | Mendelian susceptibility to mycobacterial disease | c3266863 | 3,587 | wikipedia | https://en.wikipedia.org/wiki/Mendelian_susceptibility_to_mycobacterial_disease | 2021-01-18T18:55:51 | {"gard": ["12977"], "mesh": ["D009165"], "umls": ["C3266863"], "orphanet": ["748"], "wikidata": ["Q25324130"]} |
A number sign (#) is used with this entry because variation in several different genes influences susceptibility and resistance to HIV-1 infection and the rate of progression to AIDS after infection (see PATHOGENESIS and MOLECULAR GENETICS).
Description
The pathogenesis of HIV infection and the progression from... | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | c1836230 | 3,588 | omim | https://www.omim.org/entry/609423 | 2019-09-22T16:06:04 | {"omim": ["609423"], "synonyms": ["Alternative titles", "HIV-1, SUSCEPTIBILITY TO"]} |
This article is about cysts in the body. For the ICAO airport code CYST, see St. Theresa Point Airport. For hard-shelled resting stages of some small organisms, see Microbial cyst.
Closed sac growth on the body
Cyst
H&E stained micrograph of a mediastinal bronchogenic cyst
SpecialtyPathology, general surgery
... | Cyst | c0010709 | 3,589 | wikipedia | https://en.wikipedia.org/wiki/Cyst | 2021-01-18T18:50:16 | {"mesh": ["D003560"], "wikidata": ["Q193211"]} |
A localized disease is an infectious or neoplastic process that originates in and is confined to one organ system or general area in the body,[1] such as a sprained ankle, a boil on the hand, an abscess of finger.
A localized cancer that has not extended beyond the margins of the organ involved can also be descr... | Localized disease | c0277565 | 3,590 | wikipedia | https://en.wikipedia.org/wiki/Localized_disease | 2021-01-18T18:45:42 | {"umls": ["C0277565"], "wikidata": ["Q6664621"]} |
A number sign (#) is used with this entry because of evidence that spondylocostal dysostosis-6 (SCDO6) is caused by compound heterozygous mutation in the RIPPLY2 gene (609891) on chromosome 6q14. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of spon... | SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE | c0265343 | 3,591 | omim | https://www.omim.org/entry/616566 | 2019-09-22T15:48:29 | {"mesh": ["C537565"], "omim": ["616566"], "orphanet": ["2311"], "genereviews": ["NBK8828"]} |
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at... | Refsum disease | c0034960 | 3,592 | medlineplus | https://medlineplus.gov/genetics/condition/refsum-disease/ | 2021-01-27T08:25:01 | {"gard": ["5694"], "mesh": ["D012035"], "omim": ["266500"], "synonyms": []} |
According to the WHO classification, three lesional patterns can be observed
* Inflammatory myofibroblastic tumour, that can be associated with an ALK gene rearrangement
* Plasmocytic pattern ("plasma cell granuloma"), that can be linked to IgG4-related disease
* Fibrous and hyalinizing pattern: Pulmonary hyal... | Inflammatory pseudotumor | c0334121 | 3,593 | wikipedia | https://en.wikipedia.org/wiki/Inflammatory_pseudotumor | 2021-01-18T19:08:13 | {"mesh": ["D006104"], "umls": ["C0334121"], "wikidata": ["Q16882760"]} |
Splenic marginal zone lymphoma
SpecialtyHematology, oncology
Splenic marginal zone lymphoma (SMZL) is a type of cancer (specifically a lymphoma) made up of B-cells that replace the normal architecture of the white pulp of the spleen. The neoplastic cells are both small lymphocytes and larger, transformed l... | Splenic marginal zone lymphoma | c0349632 | 3,594 | wikipedia | https://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma | 2021-01-18T18:57:09 | {"umls": ["C0349632"], "icd-9": ["200.3"], "icd-10": ["C83.0"], "orphanet": ["86854"], "wikidata": ["Q3832900"]} |
Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.
## Epidemiology
The exact prevalence of Type B pyruvate carboxylase deficiency is not known. Th... | Pyruvate carboxylase deficiency, severe neonatal type | c0034341 | 3,595 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353314 | 2021-01-23T16:52:43 | {"mesh": ["D015324"], "omim": ["266150"], "icd-10": ["E74.4"], "synonyms": ["Pyruvate carboxylase deficiency type B"]} |
For a phenotypic description of primary pulmonary hypertension (PPH), see PPH1 (178600).
Inheritance
Several reports have suggested autosomal inheritance of primary pulmonary hypertension. Coleman et al. (1959) observed primary pulmonary hypertension in 2 sisters and a brother and confirmed the diagnosis by postmor... | PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE | c1849552 | 3,596 | omim | https://www.omim.org/entry/265400 | 2019-09-22T16:22:59 | {"doid": ["14557"], "mesh": ["C564862"], "omim": ["265400", "178600"], "icd-10": ["I27.0"], "orphanet": ["422"], "synonyms": []} |
Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.
## Epidemiology
The pr... | Cirrhotic cardiomyopathy | c4511053 | 3,597 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=57777 | 2021-01-23T17:43:45 | {"icd-10": ["I42.8"]} |
Aniseikonia
SpecialtyOphthalmology
Symptomsobjects different sizes in each eye
CausesCataract surgery, refractive surgery
Aniseikonia is an ocular condition where there is a significant difference in the perceived size of images. It can occur as an overall difference between the two eyes, or as a differenc... | Aniseikonia | c0003078 | 3,598 | wikipedia | https://en.wikipedia.org/wiki/Aniseikonia | 2021-01-18T18:53:23 | {"mesh": ["D000839"], "icd-9": ["367.32"], "icd-10": ["H52.3"], "wikidata": ["Q548913"]} |
A number sign (#) is used with this entry because of evidence that generalized arterial calcification of infancy-2 (GACI2) can be caused by homozygous or compound heterozygous mutation in the ABCC6 gene (603234) on chromosome 16p13.11.
Description
Generalized arterial calcification of infancy (GACI) is a severe... | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 | c0264955 | 3,599 | omim | https://www.omim.org/entry/614473 | 2019-09-22T15:55:08 | {"doid": ["0050644"], "omim": ["614473"], "orphanet": ["51608"], "genereviews": ["NBK253403"]} |
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