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## Description
This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy (Hogan and Bauman, 1977).
Clinical Features
Hogan and Bauman (1977) reported 4 unrelated patients with early childhood on... | ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION | c3151619 | 4,200 | omim | https://www.omim.org/entry/270500 | 2019-09-22T16:22:15 | {"omim": ["270500"]} |
A number sign (#) is used with this entry because of evidence that Bethlem myopathy-1 (BTHLM1) is caused by heterozygous mutation in the COL6A1 gene (120220), the COL6A2 gene (120240), or the COL6A3 gene (120250).
See also Ullrich congenital muscular dystrophy-1 (UCMD1; 254090), an allelic disorder that shows autoso... | BETHLEM MYOPATHY 1 | c1834674 | 4,201 | omim | https://www.omim.org/entry/158810 | 2019-09-22T16:37:56 | {"doid": ["0050663"], "mesh": ["C535436"], "omim": ["158810"], "orphanet": ["610"], "synonyms": ["Alternative titles", "BETHLEM MYOPATHY", "MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES", "MUSCULAR DYSTROPHY, BENIGN CONGENITAL", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 5"], "genereviews": ["NBK1503"]} |
An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.
## Epidemiology
Prevalence of partial protein S deficiency (heterozygous individuals) is estimated at 0.16-0.21% in the general population. Prevalence of severe prote... | Severe hereditary thrombophilia due to congenital protein S deficiency | c3278211 | 4,202 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=743 | 2021-01-23T17:10:03 | {"omim": ["612336", "614514"], "icd-10": ["D68.5"], "synonyms": ["Autosomal recessive thrombophilia due to congenital protein S deficiency"]} |
Faye-Petersen et al. (1991) described a female infant, born at term to normal unrelated parents, who showed this combination of abnormalities. The osteochondrodysplasia was of a nonlethal rhizomelic type. Radiologic and light microscopic findings suggested that this was a distinct form of osteochondrodysplasia.
E... | OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION | c1833688 | 4,203 | omim | https://www.omim.org/entry/166990 | 2019-09-22T16:36:49 | {"mesh": ["C563478"], "omim": ["166990"]} |
## Clinical Features
Edwards et al. (1988) described a family with orofaciodigital manifestations including hypertelorism or telecanthus, broad, bifid nasal tip, median cleft lip, tongue lobulation and/or hamartomas, oral frenula, high-arched or cleft palate, bilateral polydactyly, and duplicated halluces. Males in... | OROFACIODIGITAL SYNDROME VIII | c0796101 | 4,204 | omim | https://www.omim.org/entry/300484 | 2019-09-22T16:20:20 | {"doid": ["0060378"], "mesh": ["C557820"], "omim": ["300484"], "orphanet": ["2755"], "synonyms": ["Alternative titles", "OFDS VIII", "ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII", "ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS", "EDWARDS SYNDROME"]} |
-spermia,
Further information: Testicular infertility factors
* view
* talk
* edit
Aspermia —lack of semen; anejaculation
Asthenozoospermia —sperm motility below lower reference limit
Azoospermia —absence of sperm in the ejaculate
Hyperspermia —semen volume above higher reference limit
... | Hyperspermia | None | 4,205 | wikipedia | https://en.wikipedia.org/wiki/Hyperspermia | 2021-01-18T19:05:45 | {"wikidata": ["Q16989722"]} |
A number sign (#) is used with this entry because CFHR5 deficiency is caused by heterozygous mutation in the CFHR5 gene (608593) on chromosome 1q32.
Clinical Features
Gale et al. (2010) reported 2 unrelated families with an autosomal dominant form of glomerulonephritis resulting in renal failure. Both families ... | CFHR5 DEFICIENCY | c0017662 | 4,206 | omim | https://www.omim.org/entry/614809 | 2019-09-22T15:54:15 | {"mesh": ["D015432"], "omim": ["614809"], "orphanet": ["329931", "329918", "54370"], "synonyms": ["Non-Ig-mediated membranoproliferative glomerulonephritis", "Non-Ig-mediated MPGN", "Non-immunoglobulin-mediated MPGN", "C3 glomerulopathy"]} |
Sara et al. (1981) developed a radioreceptor assay utilizing human fetal brain plasma membrane as matrix and somatomedin A as receptor. The concentration of the somatomedin thus assayed was about 4-fold higher in fetal blood than in adult blood. At birth, values fell in the adult range. Hitherto, 2 somatomedins (mult... | SOMATOMEDIN, EMBRYONIC | c1866879 | 4,207 | omim | https://www.omim.org/entry/182400 | 2019-09-22T16:34:45 | {"omim": ["182400"]} |
Tullio phenomenon, sound-induced vertigo, dizziness, nausea or eye movement (nystagmus) was first described in 1929 by the Italian biologist Prof. Pietro Tullio. (1881–1941)[1][2] During his experiments on pigeons, Tullio discovered that by drilling tiny holes in the semicircular canals of his subjects, he could subs... | Tullio phenomenon | c0349686 | 4,208 | wikipedia | https://en.wikipedia.org/wiki/Tullio_phenomenon | 2021-01-18T18:35:01 | {"umls": ["C0349686"], "wikidata": ["Q684277"]} |
A number sign (#) is used with this entry because of evidence that complex cortical dysplasia with other brain malformations-3 (CDCBM3) is caused by heterozygous mutation in the KIF2A gene (602591) on chromosome 5q12.
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
Clinical Features
Po... | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 | c3809414 | 4,209 | omim | https://www.omim.org/entry/615411 | 2019-09-22T15:52:14 | {"omim": ["615411"]} |
A number sign (#) is used with this entry because autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA (mtDNA) deletions-4 (PEOA4) is caused by heterozygous mutation in the nuclear-encoded DNA polymerase gamma-2 gene (POLG2; 604983) on chromosome 17q.
Description
Progressive extern... | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 | c1864668 | 4,210 | omim | https://www.omim.org/entry/610131 | 2019-09-22T16:05:04 | {"mesh": ["C566437"], "omim": ["610131", "157640"], "orphanet": ["254892"], "synonyms": ["adPEO", "Alternative titles", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 4"], "genereviews": ["NBK487393"]} |
Myeloproliferative neoplasm
Other namesMyeloproliferative diseases (MPDs)
Myelogram of someone with a myeloproliferative disorder.
SpecialtyHematology and oncology
Myeloproliferative neoplasms (MPNs) are a group of rare blood cancers in which excess red blood cells, white blood cells or platelets are produ... | Myeloproliferative neoplasm | c0282609 | 4,211 | wikipedia | https://en.wikipedia.org/wiki/Myeloproliferative_neoplasm | 2021-01-18T18:35:02 | {"mesh": ["D009196", "D019046"], "umls": ["C0282609"], "icd-9": ["289.9", "238.4", "205.1", "289.89"], "wikidata": ["Q1898104"]} |
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Isobutyryl-coenzyme A d... | Isobutyryl-coenzyme A dehydrogenase deficiency | c1969809 | 4,212 | wikipedia | https://en.wikipedia.org/wiki/Isobutyryl-coenzyme_A_dehydrogenase_deficiency | 2021-01-18T19:10:45 | {"gard": ["10223"], "mesh": ["C535541"], "umls": ["C1969809"], "orphanet": ["79159"], "wikidata": ["Q6085391"]} |
Intertrigo
Axillary intertrigo (bacterial)
Pronunciation
* /ˌɪntərˈtraɪɡoʊ/
SpecialtyDermatology
Intertrigo refers to a type of inflammatory rash (dermatitis) of the superficial skin that occurs within a person's body folds.[1] These areas are more susceptible to irritation and subsequent infec... | Intertrigo | c0021807 | 4,213 | wikipedia | https://en.wikipedia.org/wiki/Intertrigo | 2021-01-18T18:31:00 | {"mesh": ["D007402"], "icd-9": ["695.89"], "icd-10": ["L30.4"], "wikidata": ["Q796150"]} |
Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set an... | Distal trisomy 2q | c4706361 | 4,214 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96094 | 2021-01-23T18:15:12 | {"icd-10": ["Q92.3"], "synonyms": ["Distal duplication 2q", "Telomeric duplication 2q", "Trisomy 2qter"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-44 (IMD44) is caused by homozygous mutation in the STAT2 gene (600556) on chromosome 12q13.
Description
Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infect... | IMMUNODEFICIENCY 44 | c4225260 | 4,215 | omim | https://www.omim.org/entry/616636 | 2019-09-22T15:48:23 | {"omim": ["616636", "616669"], "orphanet": ["431166"], "synonyms": ["Primary immunodeficiency with post-MMR vaccine viral infection"]} |
## Clinical Features
Megarbane et al. (1999) described a Lebanese family in which 12 persons had secundum atrial defect and various cardiac and noncardiac anomalies. Cardiac anomalies were left axis deviation of the electrocardiographic QRS, right bundle branch block, atrial fibrillation, Wolff-Parkinson-White synd... | ATRIAL SEPTAL DEFECT, SECUNDUM, WITH VARIOUS CARDIAC AND NONCARDIAC DEFECTS | c1863648 | 4,216 | omim | https://www.omim.org/entry/603642 | 2019-09-22T16:12:48 | {"mesh": ["C566351"], "omim": ["603642"]} |
Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis)... | Anterior ischemic optic neuropathy | c0751711 | 4,217 | gard | https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy | 2021-01-18T18:02:05 | {"mesh": ["D018917"], "synonyms": ["AION", "Ischemic optic neuropathy"]} |
Congenital analbuminemia (CAA) is a rare disorder characterized by the absence or very low levels of human serum albumin (HSA). Although albumin is the most abundant plasma protein and has many functions, patients with CAA present with only a few mild clinical signs, such as fatigue, low blood pressure, and swelling ... | Congenital analbuminemia | c0878666 | 4,218 | gard | https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia | 2021-01-18T18:01:11 | {"omim": ["616000"], "orphanet": ["86816"], "synonyms": ["Analbuminemia", "ANALBA"]} |
Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequ... | Dihydropyrimidinuria | c0342803 | 4,219 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=38874 | 2021-01-23T18:35:22 | {"gard": ["12347"], "mesh": ["C562815"], "omim": ["222748"], "umls": ["C0342803", "C3495551"], "icd-10": ["E79.8"], "synonyms": ["Dihydropyrimidinase deficiency"]} |
HDN due to anti-Kell alloimmunization
SpecialtyObstetrics, maternal–fetal medicine, neonatology
Hemolytic disease of the newborn (anti-Kell1) is the second most common cause of severe hemolytic disease of the newborn (HDN) after Rh disease.[1] Anti-Kell1 is becoming relatively more important as prevention of R... | Hemolytic disease of the newborn (anti-Kell) | None | 4,220 | wikipedia | https://en.wikipedia.org/wiki/Hemolytic_disease_of_the_newborn_(anti-Kell) | 2021-01-18T18:53:16 | {"icd-9": ["773.2"], "icd-10": ["P55.8"], "orphanet": ["275944"], "synonyms": ["Anti-K HDN", "Maternal anti-Kell alloimmunization"], "wikidata": ["Q5712506"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial DNA depletion syndrome-4B (MTDPS4B), which manifests as a neurogastrointestinal encephalopathy (MNGIE), is caused by compound heterozygous mutation in the POLG gene (174763) on chromosome 15q26.
See also MTDPS1 (603041) for a more c... | MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | c0872218 | 4,221 | omim | https://www.omim.org/entry/613662 | 2019-09-22T15:57:58 | {"doid": ["0080123"], "mesh": ["C537477"], "omim": ["613662"], "orphanet": ["298"], "synonyms": ["Alternative titles", "MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, POLG-RELATED", "MNGIE, POLG-RELATED"], "genereviews": ["NBK26471"]} |
Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutr... | Severe congenital neutropenia | c1859966 | 4,222 | medlineplus | https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia/ | 2021-01-27T08:25:05 | {"mesh": ["C565969"], "omim": ["202700", "613107", "610738", "612541", "615285", "616022", "617014", "300299"], "synonyms": []} |
## Inheritance
Romanus (1948) described 7 cases of inverted nipples in 5 sibships in 4 generations. Shafir et al. (1979) observed 16 affected persons in 4 generations of a Sephardic family. Females are more frequently affected than males.
INHERITANCE \- Autosomal dominant CHEST Breasts \- Inverted nipples ▲ Clo... | NIPPLES INVERTED | c0269269 | 4,223 | omim | https://www.omim.org/entry/163600 | 2019-09-22T16:37:22 | {"omim": ["163600"], "synonyms": ["Alternative titles", "MAMMILLAE INVERTITAE"]} |
Mollie Fancher, the "Brooklyn Enigma"
A fasting girl was one of a number of young Victorian era girls, usually pre-adolescent, who claimed to be able to survive over indefinitely long periods of time without consuming any food or other nourishment. In addition to refusing food, fasting girls claimed to have special ... | Fasting girl | None | 4,224 | wikipedia | https://en.wikipedia.org/wiki/Fasting_girl | 2021-01-18T19:01:56 | {"wikidata": ["Q5437105"]} |
## Clinical Features
David (1973) described a family, with the surname Nelson, in which a novel dermatoglyphic syndrome occurred in a mother and 3 of her children. The palmar features were the same as those in ROES (125550), but the only striking feature in the fingerprints was that the loops were rather 'pointed' ... | DERMAL RIDGES, NELSON SYNDROME | c1852161 | 4,225 | omim | https://www.omim.org/entry/125530 | 2019-09-22T16:42:25 | {"mesh": ["C565110"], "omim": ["125530"]} |
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance an... | Leukoencephalopathy-dystonia-motor neuropathy syndrome | c3150990 | 4,226 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163684 | 2021-01-23T17:58:14 | {"gard": ["12471"], "omim": ["613724"], "icd-10": ["E75.2"]} |
## Description
Peripheral arterial occlusive disease (PAOD) results from atherosclerosis of large and medium peripheral arteries, as well as the aorta. Many risk factors contribute to PAOD, including smoking, diabetes, hypertension, and hyperlipidemia. PAOD often coexists with coronary artery disease and cerebrovas... | PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1 | c1847493 | 4,227 | omim | https://www.omim.org/entry/606787 | 2019-09-22T16:10:00 | {"mesh": ["C564658"], "omim": ["606787"], "synonyms": ["Alternative titles", "PAOD1"]} |
Rupture of the urethra is an uncommon result of penile injury, incorrect catheter insertion, straddle injury, or pelvic girdle fracture. The urethra, the muscular tube that allows for urination, may be damaged by trauma. When urethral rupture occurs, urine may extravasate (escape) into the surrounding tissues. The me... | Urethral rupture | c0561781 | 4,228 | wikipedia | https://en.wikipedia.org/wiki/Urethral_rupture | 2021-01-18T18:58:50 | {"umls": ["C0561781"], "wikidata": ["Q28458668"]} |
Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). ... | Pilomatrixoma | c0206711 | 4,229 | gard | https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma | 2021-01-18T17:58:19 | {"mesh": ["D018296"], "omim": ["132600"], "umls": ["C0206711"], "orphanet": ["91414"], "synonyms": ["Pilomatricoma", "PTR", "Calcifying epithelioma of Malherbe"]} |
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Cardiomegaly
Cardio... | Cardiomegaly | c0018800 | 4,230 | wikipedia | https://en.wikipedia.org/wiki/Cardiomegaly | 2021-01-18T19:02:07 | {"mesh": ["D006332"], "umls": ["C0018800"], "icd-9": ["429.3"], "icd-10": ["I51.7"], "wikidata": ["Q1729124"]} |
Tarsal coalition
Other namesPeroneal spastic flatfoot, Tarsal synostosis, or Tarsal dysostosis
Tarsal bones(normal)
SpecialtyRheumatology
Tarsal coalition is an abnormal connecting bridge of tissue between two normally-separate tarsal bones. The term 'coalition' means a coming together of two or more entit... | Tarsal coalition | c0265654 | 4,231 | wikipedia | https://en.wikipedia.org/wiki/Tarsal_coalition | 2021-01-18T18:46:40 | {"mesh": ["D000070604"], "umls": ["C0265654", "C1406822"], "wikidata": ["Q15666414"]} |
## Description
Fibromuscular dysplasia (FMDA) is a nonatherosclerotic, noninflammatory arterial disease that most commonly involves the renal and carotid arteries. The prevalence of symptomatic renal artery FMDA is about 4 in 1,000 and the prevalence of cervicocranial FMDA is about half of that. Histologic classifi... | FIBROMUSCULAR DYSPLASIA | c0016052 | 4,232 | omim | https://www.omim.org/entry/135580 | 2019-09-22T16:41:05 | {"mesh": ["D005352"], "omim": ["135580"], "icd-10": ["I77.3"], "synonyms": ["Alternative titles", "FIBROMUSCULAR DYSPLASIA OF ARTERIES", "FMD"]} |
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and ... | Miller syndrome | c0265257 | 4,233 | gard | https://rarediseases.info.nih.gov/diseases/8410/miller-syndrome | 2021-01-18T17:59:03 | {"mesh": ["C537680"], "omim": ["263750"], "orphanet": ["246"], "synonyms": ["Genee-Wiedemann acrofacial dysostosis", "GWAFD", "Genee-Wiedemann syndrome", "Wildervanck-Smith syndrome", "Postaxial acrofacial dysostosis (POADS) syndrome", "POADS syndrome"]} |
Asomatognosia
SpecialtyNeurology
Asomatognosia is a neurological disorder characterized as loss of recognition or awareness of part of the body.[1][2] The failure to acknowledge, for example, a limb, may be expressed verbally or as a pattern of neglect. The limb may also be attributed to another person, a delu... | Asomatognosia | c0840927 | 4,234 | wikipedia | https://en.wikipedia.org/wiki/Asomatognosia | 2021-01-18T18:41:04 | {"umls": ["C0840927"], "icd-10": ["R41.4"], "wikidata": ["Q734123"]} |
Panhypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, ... | Panhypophysitis | None | 4,235 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95513 | 2021-01-23T17:59:35 | {"icd-10": ["E23.6"], "synonyms": ["Infundibulo-panhypophysitis"]} |
A Zahn infarct is a pseudo-infarction of the liver, consisting of an area of congestion with parenchymal atrophy but no necrosis, and usually due to obstruction of a branch of the portal vein.[1][2] Zahn infarcts are unique in that there is collateral congestion of liver sinusoids that do not include areas of anoxia ... | Zahn infarct | c0333554 | 4,236 | wikipedia | https://en.wikipedia.org/wiki/Zahn_infarct | 2021-01-18T19:07:54 | {"umls": ["C0333554"], "wikidata": ["Q8064710"]} |
Factor V deficiency is an inherited bleeding disorder that prevents blood clots from forming properly. This disorder is caused by mutations in the F5 gene, which leads to a deficiency of a protein called coagulation factor V. The reduced amount of factor V may lead to nosebleeds, easy bruising, and excessive blee... | Factor V deficiency | c0015499 | 4,237 | gard | https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency | 2021-01-18T18:00:37 | {"mesh": ["D005166"], "omim": ["227400"], "umls": ["C0015499"], "orphanet": ["326"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that autosomal dominant intellectual developmental disorder-59 (MRD59) is caused by heterozygous mutation in the CAMK2G gene (602123) on chromosome 10q22.
Clinical Features
De Ligt et al. (2012) reported a boy with severe intellectual disability with myo... | INTELLECTUAL DEVELOPMENTAL DISORDER 59 | None | 4,238 | omim | https://www.omim.org/entry/618522 | 2019-09-22T15:41:36 | {"omim": ["618522"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 59"]} |
A number sign (#) is used with this entry because hawkinsinuria is caused by heterozygous mutation in the HPD gene (609695), encoding 4-hydroxyphenylpyruvic acid dioxygenase, on chromosome 12q24. Homozygous or compound heterozygous mutation in the HPD gene causes tyrosinemia type III (276710).
Description
Hawkinsin... | HAWKINSINURIA | c2931042 | 4,239 | omim | https://www.omim.org/entry/140350 | 2019-09-22T16:40:26 | {"mesh": ["C535845"], "omim": ["140350"], "orphanet": ["2118"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-84 (RP84) is caused by homozygous mutation in the DHX38 gene (605584) on chromosome 16q22.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
Aj... | RETINITIS PIGMENTOSA 84 | c0035334 | 4,240 | omim | https://www.omim.org/entry/618220 | 2019-09-22T15:43:04 | {"mesh": ["D012174"], "omim": ["618220"], "orphanet": ["791"]} |
Early Infantile Epileptic Encephalopathy (EIEE) is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (which cause stiffening of m... | Early Infantile Epileptic Encephalopathy | c0393706 | 4,241 | gard | https://rarediseases.info.nih.gov/diseases/9255/early-infantile-epileptic-encephalopathy | 2021-01-18T18:00:46 | {"umls": ["C0393706"], "orphanet": ["1934"], "synonyms": []} |
Granular parakeratosis
SpecialtyDermatology
Granular parakeratosis (also known as "Axillary granular parakeratosis",[1] "Intertriginous granular parakeratosis",[1] and more recently, "Zombie Patch") is a cutaneous condition characterized by brownish-red keratotic papules that can coalesce into plaques.[1]
## ... | Granular parakeratosis | None | 4,242 | wikipedia | https://en.wikipedia.org/wiki/Granular_parakeratosis | 2021-01-18T18:59:21 | {"wikidata": ["Q5596719"]} |
A number sign (#) is used with this entry because of evidence that hypomagnesemia, seizures, and mental retardation-2 (HOMGSMR2) is caused by heterozygous mutation in the ATP1A1 gene (182310) on chromosome 1p13.
Description
HOMGSMR2 is characterized by generalized seizures in infancy, severe hypomagnesemia, and... | HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 | None | 4,243 | omim | https://www.omim.org/entry/618314 | 2019-09-22T15:42:32 | {"omim": ["618314"]} |
Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.
## Epidemiology
It is a rare disease with 49 cases documented so far. Prevalence is unknown.
## Clinical description
It affects mainly young adults and is characterized by recurrent attacks... | Corticosteroid-sensitive aseptic abscess syndrome | None | 4,244 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54251 | 2021-01-23T18:20:04 | {"gard": ["10946"], "synonyms": ["Aseptic abscesses syndrome", "Aseptic systemic abscesses", "Disseminated aseptic abscesses"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive congenital ichthyosis-2 (ARCI2) is caused by homozygous or compound heterozygous mutation in the ALOX12B gene (603741) on chromosome 17p13.
Description
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of ... | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 | c1855789 | 4,245 | omim | https://www.omim.org/entry/242100 | 2019-09-22T16:26:29 | {"doid": ["0060710"], "mesh": ["C565473"], "omim": ["242100"], "orphanet": ["281122", "79394"], "synonyms": ["Alternative titles", "COLLODION BABY, SELF-HEALING", "ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL, 1, FORMERLY", "ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM, FORMERLY"], "genereviews": ... |
Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arisi... | Extraneural perineurioma | c4708595 | 4,246 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100002 | 2021-01-23T18:28:20 | {"synonyms": ["Soft tissue perineurioma"]} |
In 2 of 3 sons of third-cousin parents, Keutel et al. (1970) described humeroradial synostosis. Frostad (1940) reported recessive inheritance. The parents were from the same small village. The parents in the family reported by Schroder (1932) were likewise consanguineous. Humeroradial synostosis also occurs with the ... | HUMERORADIAL SYNOSTOSIS | c2930865 | 4,247 | omim | https://www.omim.org/entry/236400 | 2019-09-22T16:27:06 | {"doid": ["0060467"], "mesh": ["C535284"], "omim": ["236400", "143050"], "orphanet": ["3265"], "synonyms": ["Humero-radial fusion"]} |
Setleis syndrome
Other namesFFDD3[1]
Setleis syndrome is said to be inherited in an autosomal recessive manner.
SpecialtyDermatology
Setleis syndrome is a very rare genetic condition characterized by facial skin abnormalities and double upper eyelashes and absent lower eyelashes.[2] It belongs to a group o... | Setleis syndrome | c1744559 | 4,248 | wikipedia | https://en.wikipedia.org/wiki/Setleis_syndrome | 2021-01-18T19:00:53 | {"mesh": ["C536385"], "orphanet": ["1807"], "wikidata": ["Q7456737"]} |
Perennial ryegrass staggers is poisoning by peramine, lolitrem B, and other toxins that are contained in perennial ryegrass (Lolium perenne), and produced by the endophyte fungus Neotyphodium lolii which can be present in all parts of the grass plant, but tends to be concentrated in the lower part of the leaf she... | Perennial ryegrass staggers | c0275348 | 4,249 | wikipedia | https://en.wikipedia.org/wiki/Perennial_ryegrass_staggers | 2021-01-18T19:07:13 | {"wikidata": ["Q11346346"]} |
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
## Epidemiology
The annual incidence of GD in the... | Gaucher disease type 2 | c0268250 | 4,250 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77260 | 2021-01-23T18:58:59 | {"gard": ["2442"], "mesh": ["D005776"], "omim": ["230900"], "umls": ["C0268250"], "icd-10": ["E75.2"], "synonyms": ["Acute neuronopathic Gaucher disease", "Infantile cerebral Gaucher disease"]} |
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified d... | Pilodental dysplasia-refractive errors syndrome | c1849805 | 4,251 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2892 | 2021-01-23T18:33:46 | {"gard": ["277"], "mesh": ["C535763"], "omim": ["262020"], "umls": ["C1849805"], "synonyms": ["Euhidrotic ectodermal dysplasia", "Kopysc-Barczyk-Krol syndrome"]} |
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contrac... | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | c1970840 | 4,252 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83629 | 2021-01-23T17:58:04 | {"mesh": ["C567065"], "omim": ["300232"], "umls": ["C1970840"], "icd-10": ["G11.4"], "synonyms": ["H-SMD", "Hypomyelination-spondyloepimetaphyseal dysplasia syndrome", "Leukoencephalopathy-SEMD syndrome", "Leukoencephalopathy-metaphyseal chondrodysplasia syndrome"]} |
Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually ... | Congenital insensitivity to pain with anhidrosis | c0020074 | 4,253 | medlineplus | https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis/ | 2021-01-27T08:25:01 | {"gard": ["3006"], "mesh": ["D009477"], "omim": ["256800"], "synonyms": []} |
Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. A... | Progressive bulbar palsy | c0030442 | 4,254 | gard | https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy | 2021-01-18T17:58:09 | {"mesh": ["D010244"], "synonyms": ["Progressive bulbar atrophy"]} |
Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affe... | Neonatal progeroid syndrome | c0406586 | 4,255 | gard | https://rarediseases.info.nih.gov/diseases/330/neonatal-progeroid-syndrome | 2021-01-18T17:58:47 | {"mesh": ["C536423"], "omim": ["264090"], "umls": ["C0406586"], "orphanet": ["3455"], "synonyms": ["Wiedemann-Rautenstrauch syndrome", "Progeroid syndrome neonatal", "Wiedemann Rautenstrauch syndrome"]} |
## Clinical Features
Speech-sound disorder (SSD) is a complex behavioral disorder characterized by speech-sound production errors associated with deficits in articulation, phonologic processes, and cognitive linguistic processes. SSD is prevalent in childhood and is comorbid with disorders of language, spelling, an... | SPEECH-SOUND DISORDER | c4019167 | 4,256 | omim | https://www.omim.org/entry/608445 | 2019-09-22T16:07:48 | {"mesh": ["D066229"], "omim": ["608445"], "synonyms": ["Alternative titles", "SSD"]} |
Schimmelpenning syndrome
SpecialtyMedical genetics
Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp,[1] associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system and ge... | Schimmelpenning syndrome | c0265329 | 4,257 | wikipedia | https://en.wikipedia.org/wiki/Schimmelpenning_syndrome | 2021-01-18T19:10:24 | {"gard": ["10291"], "mesh": ["D054000"], "umls": ["C0265318", "C3854181", "C0265329"], "icd-10": ["Q85.8"], "orphanet": ["2612"], "wikidata": ["Q1274018"]} |
A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal ... | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | c4310761 | 4,258 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=528091 | 2021-01-23T17:24:01 | {"omim": ["617021"]} |
Neutrophilia
Neutrophils with a segmented nuclei surrounded by erythrocytes, the intra-cellular granules are visible in the cytoplasm (Giemsa stained)
Neutrophilia (also called neutrophil leukocytosis or occasionally neutrocytosis) is leukocytosis of neutrophils, that is, a high number of neutrophils in the bl... | Neutrophilia | c3665444 | 4,259 | wikipedia | https://en.wikipedia.org/wiki/Neutrophilia | 2021-01-18T18:42:10 | {"wikidata": ["Q491741"]} |
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 ar... | Oneirophobia | None | 4,260 | wikipedia | https://en.wikipedia.org/wiki/Oneirophobia | 2021-01-18T18:42:08 | {"wikidata": ["Q10341001"]} |
A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in m... | BVES-related limb-girdle muscular dystrophy | c4225199 | 4,261 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=476084 | 2021-01-23T18:27:27 | {"omim": ["616812"], "synonyms": ["Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome", "BVES-related LGMD", "LGMD type 2X", "LGMD2X", "Limb-girdle muscular dystrophy 2X"]} |
A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterin... | SHORT syndrome | c0878684 | 4,262 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3163 | 2021-01-23T17:40:46 | {"gard": ["7633"], "mesh": ["C537327"], "omim": ["269880"], "umls": ["C0878684"], "icd-10": ["Q87.1"], "synonyms": ["Lipodystrophy-Rieger anomaly-diabetes syndrome", "Rieger anomaly-partial lipodystrophy syndrome"]} |
Abortion in Bhutan is only legal when the abortion is a result of rape, incest, to preserve the woman's mental health, or to save her life.[1] Despite this however, the United Nations report on abortion notes that the exact status of the country's abortion law is under. "Because the state religion of Bhutan is Buddhi... | Abortion in Bhutan | None | 4,263 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Bhutan | 2021-01-18T18:38:52 | {"wikidata": ["Q19568849"]} |
A number sign (#) is used with this entry because GM2-gangliosidosis AB variant is caused by homozygous mutation in the GM2A gene (613109) on chromosome 5q33.
Description
The GM2-gangliosidoses are a group of disorders caused by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes,... | GM2-GANGLIOSIDOSIS, AB VARIANT | c0268275 | 4,264 | omim | https://www.omim.org/entry/272750 | 2019-09-22T16:21:53 | {"doid": ["4795"], "mesh": ["D049290"], "omim": ["272750"], "orphanet": ["309246"], "synonyms": ["Alternative titles", "HEXOSAMINIDASE ACTIVATOR DEFICIENCY", "GM2 ACTIVATOR DEFICIENCY", "AB VARIANT GM2-GANGLIOSIDOSIS", "TAY-SACHS DISEASE, AB VARIANT"]} |
A number sign (#) is used with this entry because analbuminemia (ANALBA) is caused by homozygous or compound heterozygous mutation in the ALB gene (103600) on chromosome 4q13.
Description
Analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumi... | ANALBUMINEMIA | c0878666 | 4,265 | omim | https://www.omim.org/entry/616000 | 2019-09-22T15:50:15 | {"omim": ["616000"], "orphanet": ["86816"], "synonyms": []} |
A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarr... | Hereditary sensory and autonomic neuropathy type 7 | c3809882 | 4,266 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391397 | 2021-01-23T17:48:59 | {"gard": ["12732"], "omim": ["615548"], "icd-10": ["G60.8"], "synonyms": ["CIP with hyperhidrosis and gastrointestinal dysfunction", "Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction", "HSAN with hyperhidrosis and gastrointestinal dysfunction", "HSAN7", "Hereditary sensory and autono... |
Grange syndrome is a rare condition that primarily affects the blood vessels. It is characterized by narrowing (stenosis) or blockage (occlusion) of arteries that supply blood to various organs and tissues, including the kidneys, brain, and heart. Stenosis or occlusion of the arteries that supply blood to the kidneys... | Grange syndrome | c1865267 | 4,267 | medlineplus | https://medlineplus.gov/genetics/condition/grange-syndrome/ | 2021-01-27T08:25:07 | {"mesh": ["C566529"], "omim": ["602531"], "synonyms": []} |
Congenital mole caused by genetic mutations
Congenital melanocytic nevus
Congenital melanocytic nevus[1]
SpecialtyOncology, dermatology
The congenital melanocytic nevus is a type of melanocytic nevus (or mole) found in infants at birth. This type of birthmark occurs in an estimated 1% of infants worldwide; ... | Congenital melanocytic nevus | c1318558 | 4,268 | wikipedia | https://en.wikipedia.org/wiki/Congenital_melanocytic_nevus | 2021-01-18T18:52:00 | {"icd-10": ["Q82.5"], "wikidata": ["Q5160447"]} |
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be c... | Esophageal spasm | c0014863 | 4,269 | wikipedia | https://en.wikipedia.org/wiki/Esophageal_spasm | 2021-01-18T19:10:43 | {"mesh": ["D015155"], "umls": ["C0014863"], "wikidata": ["Q25098596"]} |
Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.
## Epidemiology
The prevalenc... | Early-onset cerebellar ataxia with retained tendon reflexes | c0393520 | 4,270 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1177 | 2021-01-23T19:06:17 | {"gard": ["2600"], "mesh": ["C535633"], "omim": ["212895"], "umls": ["C0393520"], "icd-10": ["G11.1"], "synonyms": ["EOCA", "EOCARR", "Harding ataxia"]} |
A number sign (#) is used with this entry because autosomal dominant craniometaphyseal dysplasia (CMDD) is caused by heterozygous mutation in the human homolog of the mouse progressive ankylosis gene (ANKH; 605145).
Description
Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis an... | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | c1852502 | 4,271 | omim | https://www.omim.org/entry/123000 | 2019-09-22T16:42:47 | {"doid": ["0080033"], "mesh": ["C565145"], "omim": ["123000"], "orphanet": ["1522"], "synonyms": ["Alternative titles", "CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE", "CMD"], "genereviews": ["NBK1461"]} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
Soranzo et al. (2009) performed a genomewide scan in 12,611 participants followed by replication in an additional 7,187 individuals, and identified 17 genomic regions with genomewide significant as... | STATURE QUANTITATIVE TRAIT LOCUS 18 | c2752065 | 4,272 | omim | https://www.omim.org/entry/612892 | 2019-09-22T16:00:24 | {"omim": ["612892"]} |
Reactive arthritis is a type of infectious arthritis that occurs as a “reaction” to an infection elsewhere in the body. This process may occur weeks or even months after the infection has resolved. In addition to joint inflammation, reactive arthritis is associated with two other symptoms: redness and inflammation of... | Reactive arthritis | c0035012 | 4,273 | gard | https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis | 2021-01-18T17:58:00 | {"mesh": ["D016918"], "orphanet": ["29207"], "synonyms": ["Post-infectious arthritis", "Post-infectious reactive arthropathy", "PIRA", "Reiter syndrome", "Reiter's syndrome"]} |
Vulvar intraepithelial neoplasia
Micrograph of (classic) vulvar intraepithelial neoplasia III. H&E stain.
SpecialtyGynecology
Vulvar intraepithelial neoplasia (VIN) refers to particular changes that can occur in the skin that covers the vulva. VIN is an intraepithelial neoplasia, and can disappear without tr... | Vulvar intraepithelial neoplasia | c0346210 | 4,274 | wikipedia | https://en.wikipedia.org/wiki/Vulvar_intraepithelial_neoplasia | 2021-01-18T18:59:59 | {"umls": ["C0346210"], "icd-9": ["233.32"], "icd-10": ["D07.1"], "orphanet": ["137583"], "wikidata": ["Q7943637"]} |
A number sign (#) is used with this entry because of evidence that hereditary congenital facial paresis-3 (HCFP3) is caused by homozygous mutation in the HOXB1 gene (142968) on chromosome 17q21.
Description
HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysf... | FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | c3553625 | 4,275 | omim | https://www.omim.org/entry/614744 | 2019-09-22T15:54:20 | {"omim": ["614744"], "orphanet": ["306530"], "synonyms": ["Congenital hereditary facial palsy with variable deafness", "Congenital hereditary facial palsy with variable hearing loss", "Congenital hereditary facial paralysis with variable deafness", "Congenital hereditary facial paralysis-variable deafness syndrome"]} |
Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it im... | Hereditary spherocytosis | c1866810 | 4,276 | medlineplus | https://medlineplus.gov/genetics/condition/hereditary-spherocytosis/ | 2021-01-27T08:24:54 | {"gard": ["6639"], "mesh": ["C566678"], "omim": ["182870", "182900", "270970", "612653", "612690"], "synonyms": []} |
Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.
## Epidemiology
Prevalence of neuroferritinopathy is unknown. To date fewer than 50 cases have been reported.
## Clinical d... | Neuroferritinopathy | c1853578 | 4,277 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157846 | 2021-01-23T18:32:18 | {"gard": ["10686"], "mesh": ["C548080"], "omim": ["606159"], "umls": ["C1853578"], "icd-10": ["G23.0"], "synonyms": ["Adult basal ganglia disease", "Ferritin-related neurodegeneration", "Hereditary ferritinopathy"]} |
A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.
*[v... | SIX2-related frontonasal dysplasia | None | 4,278 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=488437 | 2021-01-23T17:05:35 | {"synonyms": ["SIX2-related FND"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive Noonan syndrome (NS2) is caused by homozygous or compound heterozygous mutation in the LZTR1 gene (600574) on chromosome 22q11.
Description
Noonan syndrome (NS) is a multiple congenital anomalies syndrome characterized by a typic... | NOONAN SYNDROME 2 | c0028326 | 4,279 | omim | https://www.omim.org/entry/605275 | 2019-09-22T16:11:26 | {"doid": ["0060580"], "mesh": ["D009634"], "omim": ["605275"], "orphanet": ["648"], "synonyms": ["Alternative titles", "NOONAN SYNDROME, AUTOSOMAL RECESSIVE"], "genereviews": ["NBK1124"]} |
Diffuse dermal angiomatosis is a rare condition in which purplish patches develop in the skin, most often on the legs, though they may occur in other areas of the body. Sometimes these purple patches can become open wounds in the skin (ulcerations), which may be painful. This condition occurs when cells that line blo... | Diffuse dermal angiomatosis | None | 4,280 | gard | https://rarediseases.info.nih.gov/diseases/10888/diffuse-dermal-angiomatosis | 2021-01-18T18:00:52 | {"synonyms": []} |
A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the up... | Epidermolytic nevus | c1302848 | 4,281 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=497737 | 2021-01-23T18:44:18 | {"synonyms": ["Epidermal nevus with epidermolytic hyperkeratosis", "Epidermolytic epidermal nevus", "Epidermolytic verrucous epidermal nevus"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see 137760.
Clinical Features
Wang et al. (2006) reported a 3-generation Chinese family in which 8 members had confirmed autosomal dominant juvenile-onset primary open angle glaucoma (JOAG; see 1377... | GLAUCOMA 1, OPEN ANGLE, N | c2981140 | 4,282 | omim | https://www.omim.org/entry/611274 | 2019-09-22T16:03:25 | {"doid": ["1067"], "omim": ["611274"], "orphanet": ["98977"]} |
Oculocerebrocutaneous (OCC) syndrome is a rare genetic disorder characterized primarily by eye, skin, and brain malformations. It has been described mostly in males. Findings in affected individuals may include orbital cysts, areas of underdeveloped (hypoplastic) or absent (aplastic) skin, and underdevelopment (hypop... | Oculocerebrocutaneous syndrome | c0796092 | 4,283 | gard | https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome | 2021-01-18T17:58:38 | {"mesh": ["C538088"], "omim": ["164180"], "umls": ["C0796092"], "orphanet": ["1647"], "synonyms": ["Delleman syndrome", "Delleman Oorthuys syndrome", "Orbital cyst with cerebral and focal dermal malformations", "OCCS", "OCC Syndrome", "Oculo-cerebro-cutaneous syndrome"]} |
Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variab... | Ependymoma | c0014474 | 4,284 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251636 | 2021-01-23T18:47:07 | {"gard": ["6353"], "mesh": ["D004806"], "umls": ["C0014474"], "icd-10": ["D43.2"], "synonyms": ["Classic ependymoma"]} |
Jackson–Weiss syndrome
Other namesCraniosynostosis, midfacial hypoplasia, and foot abnormalities [1]
Jackson–Weiss syndrome is inherited in an autosomal dominant pattern
SymptomsHypertelorism[1]
CausesMutations in the FGFR2 gene [2]
Diagnostic methodGenetic testing[2]
TreatmentSurgery[3]
Jackson–Weis... | Jackson–Weiss syndrome | c0795998 | 4,285 | wikipedia | https://en.wikipedia.org/wiki/Jackson%E2%80%93Weiss_syndrome | 2021-01-18T18:39:09 | {"gard": ["6796"], "mesh": ["C537559"], "umls": ["C0795998"], "orphanet": ["1540"], "wikidata": ["Q6118062"]} |
A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophag... | Fourth branchial cleft anomaly | c3873490 | 4,286 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141037 | 2021-01-23T18:10:56 | {"icd-10": ["Q18.0"], "synonyms": ["Fourth branchial cleft cyst", "Fourth branchial cleft fistula"]} |
A very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.
*[v]: View this template
*[t]: Discuss t... | Moebius syndrome | c0221060 | 4,287 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=570 | 2021-01-23T17:14:18 | {"gard": ["8549"], "mesh": ["D020331"], "omim": ["157900"], "umls": ["C0221060", "C0853240"], "icd-10": ["Q87.0"], "synonyms": ["Congenital facial diplegia", "Möbius syndrome"]} |
A number sign (#) is used with this entry because of evidence that Brugada syndrome-2 (BRGDA2) is caused by heterozygous mutation in the GPD1L gene (611778) on chromosome 3p22.
Description
Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ... | BRUGADA SYNDROME 2 | c1142166 | 4,288 | omim | https://www.omim.org/entry/611777 | 2019-09-22T16:02:51 | {"doid": ["0110219"], "mesh": ["D053840"], "omim": ["611777"], "orphanet": ["130"], "genereviews": ["NBK1517"]} |
## Clinical Features
Chouery et al. (2008) reported a large consanguineous Lebanese family in which 3 sisters had primary focal torsion dystonia beginning with torticollis at ages 17, 19, and 14 years, respectively. Two or 3 years later, the symptoms spread, causing segmental dystonia for 2 patients and generalized... | DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE | c2676281 | 4,289 | omim | https://www.omim.org/entry/612406 | 2019-09-22T16:01:33 | {"doid": ["0090042"], "mesh": ["C567319"], "omim": ["612406"], "orphanet": ["370103"], "synonyms": []} |
Teebi et al. (1989) observed an inbred family in Kuwait in which 3 females and 2 males from a sibship of 10 had macrosomia, severe microphthalmia, and early infant death. Three of the affected infants had median cleft palate. All 5 affected sibs showed respiratory infections in early life and died either unexpectedly... | MACROSOMIA WITH MICROPHTHALMIA, LETHAL | c1855467 | 4,290 | omim | https://www.omim.org/entry/248110 | 2019-09-22T16:25:43 | {"mesh": ["C537830"], "omim": ["248110"], "orphanet": ["2432"]} |
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. (September 2017)
Benign metastasizing leiomyoma
SpecialtyOncology
Benign metastasizing leiomyoma is a rare condition characterized by the growth of... | Benign metastasizing leiomyoma | c0346201 | 4,291 | wikipedia | https://en.wikipedia.org/wiki/Benign_metastasizing_leiomyoma | 2021-01-18T18:41:34 | {"gard": ["10776"], "umls": ["C0346201", "C1266132"], "wikidata": ["Q30314259"]} |
Proximal subungual onychomycosis
SpecialtyInfectious disease
Proximal subungual onychomycosis is an infection of the nail plate by fungus, primarily affecting the proximal nailfold.[1]:305
## See also[edit]
* Onychomycosis
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy ... | Proximal subungual onychomycosis | c1274514 | 4,292 | wikipedia | https://en.wikipedia.org/wiki/Proximal_subungual_onychomycosis | 2021-01-18T19:04:27 | {"umls": ["C1274514"], "wikidata": ["Q7252854"]} |
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and lea... | X-linked mandibulofacial dysostosis | c1844918 | 4,293 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1131 | 2021-01-23T18:13:20 | {"gard": ["1002"], "mesh": ["C537102"], "omim": ["301950"], "umls": ["C1844918"], "icd-10": ["Q75.4"], "synonyms": ["Mandibulofacial dysostosis, Toriello type", "X-linked branchial arch syndrome", "X-linked mandibulofacial dysostosis with limb anomalies"]} |
Crystal arthropathy
SpecialtyRheumatology
Crystal arthropathy is a class of joint disorder (called arthropathy) that is characterized by accumulation of tiny crystals in one or more joints. Polarizing microscopy and application of other crystallographic techniques have improved identification of different micr... | Crystal arthropathy | c0152087 | 4,294 | wikipedia | https://en.wikipedia.org/wiki/Crystal_arthropathy | 2021-01-18T18:48:53 | {"gard": ["12802"], "mesh": ["D000070657"], "icd-9": ["712", "712.9", "712.90"], "icd-10": ["M10", "M11"], "wikidata": ["Q5191403"]} |
## Summary
### Clinical characteristics.
Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micro... | Atelosteogenesis Type 2 | c1850554 | 4,295 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1317/ | 2021-01-18T21:41:46 | {"mesh": ["C535395"], "synonyms": []} |
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
## Epidemiology
Less than 10... | Mitochondrial myopathy and sideroblastic anemia | c1838103 | 4,296 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2598 | 2021-01-23T17:18:53 | {"gard": ["3885"], "mesh": ["C536101"], "omim": ["500011", "600462", "613561"], "umls": ["C1838103"], "icd-10": ["G71.3"], "synonyms": ["MLASA", "Myopathy, lactic acidosis and sideroblastic anemia"]} |
An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.
## Epidemiology
To date, ADSD has been observed in seven individuals in one family.
## Clinical description
Onset of symptoms of ADSD is in the fourth to fifth decade of life with mild progressive dysarthria and hypoki... | Autosomal dominant striatal neurodegeneration | c1836694 | 4,297 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228169 | 2021-01-23T18:20:56 | {"mesh": ["C563783"], "omim": ["609161"], "umls": ["C1836694"], "synonyms": ["ADSD"]} |
Balci et al. (2004) reported a brother and sister with an apparently previously undescribed syndrome characterized by unusual triangular facial appearance associated with cleft palate, malocclusion, severe midfacial hypoplasia, and mild sensorineural hearing loss. Both sibs had normal intelligence. The parents were u... | CLEFT PALATE, MIDFACIAL HYPOPLASIA, TRIANGULAR FACIES, AND SENSORINEURAL HEARING LOSS | c1836120 | 4,298 | omim | https://www.omim.org/entry/609466 | 2019-09-22T16:06:01 | {"mesh": ["C536427"], "omim": ["609466"]} |
Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mut... | Autosomal recessive spastic paraplegia type 21 | c1855346 | 4,299 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101001 | 2021-01-23T18:01:56 | {"mesh": ["C565409"], "omim": ["248900"], "umls": ["C1855346"], "icd-10": ["G11.4"], "synonyms": ["Mast syndrome", "SPG21"]} |
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