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## Description
Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009).
Clinical Features
Blount (1937) distinguished infantile (188700)... | BLOUNT DISEASE, ADOLESCENT | c0175756 | 6,500 | omim | https://www.omim.org/entry/259200 | 2019-09-22T16:23:54 | {"doid": ["14798"], "mesh": ["C536237"], "omim": ["259200"], "orphanet": ["2768"], "synonyms": ["Alternative titles", "OSTEOCHONDROSIS DEFORMANS TIBIAE, ADOLESCENT", "TIBIA VARA, ADOLESCENT"]} |
Lentigo maligna melanoma
SpecialtyOncology, dermatology
Lentigo maligna melanoma is a melanoma that has evolved from a lentigo maligna,[1]:695 as seen as a lentigo maligna with melanoma cells invading below the boundaries of the epidermis.[2] They are usually found on chronically sun damaged skin such as the f... | Lentigo maligna melanoma | c2739810 | 6,501 | wikipedia | https://en.wikipedia.org/wiki/Lentigo_maligna_melanoma | 2021-01-18T18:59:51 | {"gard": ["9962"], "umls": ["C2739810"], "icd-9": ["M8742/3"], "icd-10": ["C43"], "wikidata": ["Q6523346"]} |
This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
## Epidemiology
Around ten cases have been reported so far.
## Etiology
The syndrome is caused by... | Syndactyly-telecanthus-anogenital and renal malformations syndrome | c2678045 | 6,502 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140952 | 2021-01-23T16:56:40 | {"gard": ["10295"], "mesh": ["C567475"], "omim": ["300707"], "umls": ["C2678045"], "icd-10": ["Q87.8"], "synonyms": ["STAR syndrome"]} |
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).
## Epidemiology
The prevalence of ADPCLD is 1/100, 000.
## Clinical description
... | Isolated polycystic liver disease | c0158683 | 6,503 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2924 | 2021-01-23T18:21:24 | {"gard": ["9457"], "mesh": ["C536330"], "omim": ["174050", "617004"], "umls": ["C0158683"], "icd-10": ["Q44.6"], "synonyms": ["ADPCLD", "Autosomal dominant polycystic liver disease", "PCLD"]} |
A number sign (#) is used with this entry because familial hypertrophic cardiomyopathy-14 is caused by mutation in the MYH6 gene (160710).
For a phenotypic description and a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600).
Molecular Genetics
In a study of late-onset h... | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 | c2750467 | 6,504 | omim | https://www.omim.org/entry/613251 | 2019-09-22T15:59:09 | {"mesh": ["C567684"], "omim": ["613251"]} |
Acrocallosal syndrome
Polydactyly and hallux duplication in a 1 day old infant due to acrocallosal syndrome.
SpecialtyMedical genetics
Acrocallosal syndrome (also known as ACLS) is a rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor ... | Acrocallosal syndrome | c3277723 | 6,505 | wikipedia | https://en.wikipedia.org/wiki/Acrocallosal_syndrome | 2021-01-18T18:54:41 | {"gard": ["5721"], "mesh": ["D055673"], "umls": ["C3277723", "C2931760"], "icd-10": ["Q04.0"], "orphanet": ["36"], "wikidata": ["Q4675304"]} |
In an Iranian family, Passwell et al. (1975) described a combination of congenital ichthyosis, mental retardation, dwarfism, and renal impairment. Two sisters and a brother were affected as well as a female who was a half sister of both parents (the offspring of the mother of the mother by the father of the father).
... | ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT | c1855787 | 6,506 | omim | https://www.omim.org/entry/242530 | 2019-09-22T16:26:31 | {"mesh": ["C536274"], "omim": ["242530"], "orphanet": ["2278"]} |
Post-traumatic amnesia
SpecialtyPsychiatry, neurology, neuropsychology
Post-traumatic amnesia (PTA) is a state of confusion that occurs immediately following a traumatic brain injury (TBI) in which the injured person is disoriented and unable to remember events that occur after the injury.[1] The person may be... | Post-traumatic amnesia | c0002623 | 6,507 | wikipedia | https://en.wikipedia.org/wiki/Post-traumatic_amnesia | 2021-01-18T18:57:25 | {"umls": ["C0002623"], "wikidata": ["Q1188518"]} |
Human disease
Tight hymenal ring
SpecialtyGynecology
Tight hymenal ring is a disorder of the hymen, characterized by a rigid hymen and tight introitus, whether acquired or congenital. It excludes an imperforate hymen.
The condition can be relieved by outpatient surgery or manual dilation.[1]
## Referenc... | Tight hymenal ring | c0156387 | 6,508 | wikipedia | https://en.wikipedia.org/wiki/Tight_hymenal_ring | 2021-01-18T18:32:10 | {"umls": ["C0156387"], "icd-10": ["N89.6"], "wikidata": ["Q16999817"]} |
A number sign (#) is used with this entry because Cornelia de Lange syndrome-1 (CDLS1) is caused by heterozygous mutation in the NIPBL gene (608667), which encodes a component of the cohesin complex, on chromosome 5p13.
Description
The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome rec... | CORNELIA DE LANGE SYNDROME 1 | c0270972 | 6,509 | omim | https://www.omim.org/entry/122470 | 2019-09-22T16:42:51 | {"doid": ["0080505"], "mesh": ["D003635"], "omim": ["122470"], "icd-10": ["Q87.1"], "orphanet": ["199"], "synonyms": ["Alternative titles", "CDL", "TYPUS DEGENERATIVUS AMSTELODAMENSIS", "DE LANGE SYNDROME", "BRACHMANN-DE LANGE SYNDROME"], "genereviews": ["NBK1104"]} |
Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding fo... | Factor V deficiency | c0015499 | 6,510 | medlineplus | https://medlineplus.gov/genetics/condition/factor-v-deficiency/ | 2021-01-27T08:25:33 | {"gard": ["2237"], "mesh": ["D005166"], "omim": ["227400"], "synonyms": []} |
A number sign (#) is used with this entry because Ehlers-Danlos syndrome arthrochalasia type 2 (EDSARTH2) is caused by heterozygous mutation in the COL1A2 (120160) gene on chromosome 7q21.
Several forms of osteogenesis imperfecta (see, e.g., OI1, 166200) are also caused by mutation in the COL1A2 gene.
Description
... | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | c0268345 | 6,511 | omim | https://www.omim.org/entry/617821 | 2019-09-22T15:44:42 | {"omim": ["617821"], "orphanet": ["1899"], "synonyms": ["Alternative titles", "EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT", "EDS VIIB"]} |
A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associate... | Hypopigmentation-punctate palmoplantar keratoderma syndrome | c3809781 | 6,512 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324561 | 2021-01-23T17:47:21 | {"gard": ["12384"], "omim": ["615522"], "icd-10": ["Q82.8"], "synonyms": ["Cole disease", "Guttate hypopigmentation and punctate palmoplantar keratoderma", "Hypopigmentation and punctate keratosis of the palms and soles"]} |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encepha... | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | c1836797 | 6,513 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137681 | 2021-01-23T18:08:51 | {"mesh": ["C563797"], "omim": ["609060"], "umls": ["C1836797"], "icd-10": ["E88.8"], "synonyms": ["Hepatoencephalopathy due to COXPD1"]} |
Myxedema psychosis
Other names
* Myxedematous psychosis
* Myxedema madness
Myxedema psychosis is a relatively uncommon consequence of hypothyroidism, such as in Hashimoto's thyroiditis or in patients who have had the thyroid surgically removed and are not taking thyroxine. A chronically under-active thy... | Myxedema psychosis | None | 6,514 | wikipedia | https://en.wikipedia.org/wiki/Myxedema_psychosis | 2021-01-18T18:39:30 | {"wikidata": ["Q6949353"]} |
A rare tumor of salivary glands characterized by a benign, well-circumscribed, slow-growing, painless mass most commonly occurring in the parotid gland (but also the palate, submandibular gland, or nasal septal mucosa), histopathologically composed of epithelial and myoepithelial / stromal components. Possible signs ... | Pleomorphic salivary gland adenoma | c1519176 | 6,515 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=454821 | 2021-01-23T17:06:09 | {"mesh": ["C563250"], "omim": ["181030"], "icd-10": ["D11.0"]} |
A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such... | Short rib-polydactyly syndrome, Majewski type | c0024507 | 6,516 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93269 | 2021-01-23T17:08:18 | {"gard": ["4833"], "mesh": ["D012779"], "omim": ["263520", "613091"], "umls": ["C0024507"], "icd-10": ["Q77.2"], "synonyms": ["Short rib-polydactyly syndrome type 2"]} |
"MEN-1" and "MEN 1" redirect here. For the associated gene and protein, see MEN1.
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be ... | Multiple endocrine neoplasia type 1 | c3149237 | 6,517 | wikipedia | https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1 | 2021-01-18T18:51:59 | {"gard": ["3829"], "mesh": ["D018761"], "umls": ["C3149237"], "orphanet": ["652"], "wikidata": ["Q3347154"]} |
A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf ... | TNP03-related limb-girdle muscular dystrophy D2 | c1842062 | 6,518 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=55595 | 2021-01-23T17:53:47 | {"gard": ["12530"], "mesh": ["C564242"], "omim": ["608423"], "umls": ["C1842062"], "icd-10": ["G71.0"], "synonyms": ["Autosomal dominant limb-girdle muscular dystrophy type 1F", "LGMD type 1F", "LGMD1F", "Limb-girdle muscular dystrophy type 1F", "TNP03-related LGMD D2"]} |
A number sign (#) is used with this entry because Fanconi anemia of complementation group B is caused by mutation in the FANCB gene (300515) on chromosome Xp22.
Description
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features in... | FANCONI ANEMIA, COMPLEMENTATION GROUP B | c0015625 | 6,519 | omim | https://www.omim.org/entry/300514 | 2019-09-22T16:20:08 | {"doid": ["0111098"], "mesh": ["D005199"], "omim": ["300514"], "orphanet": ["84"], "synonyms": ["Alternative titles", "FACB", "FANCONI PANCYTOPENIA, TYPE 2"], "genereviews": ["NBK1401", "NBK5192"]} |
## Clinical Features
In 2 sisters and 5 unrelated patients, Neuhauser et al. (1976) described a 'new' type of craniosynostosis-craniofacial dysostosis with short stature. Premature closure of the lambdoid and posterior part of the sagittal sutures caused a posteriorly narrow, dolichocephalic skull with small, flat,... | CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE | c1857511 | 6,520 | omim | https://www.omim.org/entry/218350 | 2019-09-22T16:29:17 | {"mesh": ["C536455"], "omim": ["218350"], "orphanet": ["1516"], "synonyms": ["Alternative titles", "BILATERAL LAMBDOID AND SAGITTAL SYNOSTOSIS"]} |
HIV disease-related drug reactions present in HIV-infected patients, especially those with helper T-cell counts between 25 and 200, immunosuppression that increases the risk for the development of adverse reactions to medications.[1]:131
## See also[edit]
* HIV
* Skin lesion
* List of cutaneous conditions
##... | HIV disease–related drug reaction | None | 6,521 | wikipedia | https://en.wikipedia.org/wiki/HIV_disease%E2%80%93related_drug_reaction | 2021-01-18T18:40:47 | {"wikidata": ["Q5629931"]} |
A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-11 (CLN11) is caused by homozygous mutation in the GRN gene (138945) on chromosome 17q.
Heterozygous mutation in the GRN gene causes frontotemporal lobar degeneration with TDP43-inclusions (607485).
Description
Neuronal ceroid lip... | CEROID LIPOFUSCINOSIS, NEURONAL, 11 | c0022797 | 6,522 | omim | https://www.omim.org/entry/614706 | 2019-09-22T15:54:28 | {"doid": ["0110732"], "mesh": ["D009472"], "omim": ["614706"], "orphanet": ["79262", "314629"]} |
A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the a... | Anomalous aortic origin of the right coronary artery | None | 6,523 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=541454 | 2021-01-23T18:00:09 | {"icd-10": ["Q24.5"], "synonyms": ["AORCA", "R-ACAOS", "Right coronary artery from left aortic sinus"]} |
A number sign (#) is used with this entry because of evidence that lipoprotein glomerulopathy can be caused by heterozygous mutation in the APOE gene (107741).
Description
Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein t... | LIPOPROTEIN GLOMERULOPATHY | c2673196 | 6,524 | omim | https://www.omim.org/entry/611771 | 2019-09-22T16:02:51 | {"mesh": ["C567089"], "omim": ["611771"], "orphanet": ["329481"]} |
Hypersalivation
Other namesPtyalism,[1] sialorrhea,[2] water brash
SpecialtyOral and maxillofacial surgery
Hypersalivation is the excessive production of saliva.[3] It has also been defined as increased amount of saliva in the mouth, which may also be caused by decreased clearance of saliva.[4]
Hypersalivat... | Hypersalivation | c0037036 | 6,525 | wikipedia | https://en.wikipedia.org/wiki/Hypersalivation | 2021-01-18T18:50:38 | {"mesh": ["D012798"], "umls": ["C0037036", "C0013132"], "icd-9": ["527.7"], "icd-10": ["K11.7"], "wikidata": ["Q761862"]} |
Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs a... | Neuroacanthocytosis | c0393576 | 6,526 | gard | https://rarediseases.info.nih.gov/diseases/10902/neuroacanthocytosis | 2021-01-18T17:58:45 | {"mesh": ["D054546"], "orphanet": ["263440"], "synonyms": ["Neuroacanthocytosis syndrome"]} |
This article is about the cutaneous condition Bazex syndrome. For the inherited condition Bazex syndrome, see Bazex–Dupré–Christol syndrome.
Paraneoplastic acrokeratosis
Other namesAcrokeratosis paraneoplastica of Bazex and Acrokeratosis neoplastica)[1]
SpecialtyDermatology
Paraneoplastic acrokeratosis, or ... | Paraneoplastic acrokeratosis | c0406355 | 6,527 | wikipedia | https://en.wikipedia.org/wiki/Paraneoplastic_acrokeratosis | 2021-01-18T19:00:23 | {"umls": ["C0406355"], "icd-10": ["L85.1"], "orphanet": ["166113"], "wikidata": ["Q4675787"]} |
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal... | Atrioventricular defect-blepharophimosis-radial and anal defect syndrome | c1838606 | 6,528 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1352 | 2021-01-23T17:33:21 | {"gard": ["2742"], "mesh": ["C563994"], "omim": ["600123"], "umls": ["C1838606"], "icd-10": ["Q87.8"], "synonyms": ["Houlston-Ironton-Temple syndrome"]} |
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyse... | Short stature, Brussels type | c1832439 | 6,529 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2867 | 2021-01-23T17:23:39 | {"gard": ["4838"], "mesh": ["C537121"], "omim": ["601350"], "umls": ["C1832439"], "icd-10": ["Q87.1"], "synonyms": ["Mievis-Verellen-Dumoulin syndrome"]} |
Papular eruption of blacks
SpecialtyDermatology
Papular eruption of blacks is a cutaneous condition characterized clinically by small, pruritic papules and histologically by a mononuclear cell-eosinophil perivascular infiltrate.[1][2]
## See also[edit]
* Pachydermatous eosinophilic dermatitis
* List of c... | Papular eruption of blacks | c0406789 | 6,530 | wikipedia | https://en.wikipedia.org/wiki/Papular_eruption_of_blacks | 2021-01-18T18:34:13 | {"umls": ["C0406789"], "wikidata": ["Q16920098"]} |
Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin.
One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of pain and ... | Majeed syndrome | c1864997 | 6,531 | medlineplus | https://medlineplus.gov/genetics/condition/majeed-syndrome/ | 2021-01-27T08:25:05 | {"gard": ["10088"], "mesh": ["C537839"], "omim": ["609628"], "synonyms": []} |
A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatin... | HNRNPDL-related limb-girdle muscular dystrophy D3 | c1836765 | 6,532 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=55596 | 2021-01-23T17:53:55 | {"gard": ["12531"], "mesh": ["C563794"], "omim": ["609115"], "umls": ["C1836765"], "icd-10": ["G71.0"], "synonyms": ["Autosomal dominant limb-girdle muscular dystrophy type 1G", "HNRNPDL-related LGMD D3", "LGMD type 1G", "LGMD1G", "Limb-girdle muscular dystrophy type 1G"]} |
Non-X histiocytosis
SpecialtyDermatology
Non-X histiocytoses are a clinically well-defined group of cutaneous syndromes characterized by infiltrates of monocytes/macrophages, as opposed to X-type histiocytoses in which the infiltrates contain Langerhans cells.[1]:714 Conditions included in this group are:[1]:7... | Non-X histiocytosis | c0019624 | 6,533 | wikipedia | https://en.wikipedia.org/wiki/Non-X_histiocytosis | 2021-01-18T19:10:36 | {"gard": ["8231"], "mesh": ["D015616"], "umls": ["C0019624"], "orphanet": ["157987"], "wikidata": ["Q3136521"]} |
Phlebothrombosis occurs when a blood clot (thrombosis) in a vein (phlebo) forms independently from the presence of inflammation of the vein (phlebitis). Thrombophlebitis is phlebitis (vein inflammation) related to a thrombus (blood clot). These conditions are usually of the superficial veins and are generally mil... | Phlebothrombosis | c0042487 | 6,534 | wikipedia | https://en.wikipedia.org/wiki/Phlebothrombosis | 2021-01-18T18:55:52 | {"mesh": ["D020246"], "wikidata": ["Q3746554"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-8 (JBTS8) is caused by homozygous or compound heterozygous mutation in the ARL13B gene (608922) on chromosome 3q11.
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.
Clinical... | JOUBERT SYNDROME 8 | c2676771 | 6,535 | omim | https://www.omim.org/entry/612291 | 2019-09-22T16:01:56 | {"doid": ["0111003"], "mesh": ["C567358"], "omim": ["612291", "213300"], "orphanet": ["475"], "synonyms": ["CPD IV", "Cerebelloparenchymal disorder IV", "Classic Joubert syndrome", "Joubert syndrome type A", "Joubert-Boltshauser syndrome", "Pure Joubert syndrome"], "genereviews": ["NBK1325"]} |
A number sign (#) is used with this entry because of evidence that spastic paraplegia-31 (SPG31) is caused by heterozygous mutation in the receptor expression-enhancing protein-1 gene (REEP1; 609139) on chromosome 2p11.
Mutation in the REEP1 gene can also cause distal hereditary motor neuronopathy, type VB (HMN5B; 6... | SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT | c1853247 | 6,536 | omim | https://www.omim.org/entry/610250 | 2019-09-22T16:04:50 | {"doid": ["0110782"], "mesh": ["C565210"], "omim": ["610250"], "orphanet": ["101011"]} |
A number sign (#) is used with this entry because of evidence that erythrokeratodermia variabilis et progressiva-2 (EKVP2) is caused by heterozygous mutation in the gene encoding connexin-30.3 (GJB4; 605425) on chromosome 1p34.
Description
Erythrokeratodermia variabilis et progressiva-2 is a genodermatosis characte... | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 | c0265961 | 6,537 | omim | https://www.omim.org/entry/617524 | 2019-09-22T15:45:38 | {"doid": ["0080248"], "mesh": ["D056266"], "omim": ["617524"], "orphanet": ["317"]} |
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).
Pe... | Aniridia | c0003076 | 6,538 | medlineplus | https://medlineplus.gov/genetics/condition/aniridia/ | 2021-01-27T08:24:56 | {"gard": ["5816"], "mesh": ["D015783"], "omim": ["106210"], "synonyms": []} |
For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see 606641.
Mapping
In a genomewide linkage analysis of body mass index (BMI) in 8 extended Costa Rican families involving 415 parent-child trios originally ascertained on asthma affection status (see 611064 and Celedon... | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 15 | c2751823 | 6,539 | omim | https://www.omim.org/entry/612967 | 2019-09-22T16:00:09 | {"omim": ["612967"]} |
GABA (gamma-aminobutyric acid) is an important molecule which slows down the activity of cells in the brain.[1] GABA is broken down in the body by a substance known as 4-aminobutyrate aminotransferase, also known as GABA-transaminase or GABA-T.[1] Mutations in the ABAT gene can cause less GABA-T to be made, a conditi... | Gamma aminobutyric acid transaminase deficiency | c0342708 | 6,540 | gard | https://rarediseases.info.nih.gov/diseases/194/gamma-aminobutyric-acid-transaminase-deficiency | 2021-01-18T18:00:22 | {"mesh": ["C535407"], "omim": ["137150"], "umls": ["C0342708"], "orphanet": ["2066"], "synonyms": ["GABA transaminase deficiency", "Gamma aminobutyrate transaminase deficiency", "GABAT", "4 alpha aminobutyrate transaminase deficiency", "ABAT"]} |
Vici syndrome
Other namesDionisi–Vici–Sabetta–Gambarara syndrome
Vici syndrome has an autosomal recessive pattern of inheritance.
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum (or absent corpus callosum cataract immunodeficiency),[1] ... | Vici syndrome | c1855772 | 6,541 | wikipedia | https://en.wikipedia.org/wiki/Vici_syndrome | 2021-01-18T18:40:37 | {"gard": ["448"], "mesh": ["C535566"], "umls": ["C1855772"], "orphanet": ["1493"], "wikidata": ["Q7925271"]} |
A number sign (#) is used with this entry because T cell-negative (T-), B cell-negative (B-), natural killer cell-negative (NK-) severe combined immunodeficiency (SCID) is caused by homozygous or compound heterozygous mutation in the adenosine deaminase gene (ADA; 608958) on chromosome 20q13.
For a general pheno... | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | c0392607 | 6,542 | omim | https://www.omim.org/entry/102700 | 2019-09-22T16:45:25 | {"doid": ["5810"], "mesh": ["C531816"], "omim": ["102700"], "orphanet": ["277"], "synonyms": ["Alternative titles", "SCID DUE TO ADA DEFICIENCY", "ADA-SCID", "SCID DUE TO ADA DEFICIENCY, EARLY-ONSET"], "genereviews": ["NBK1483"]} |
## Clinical Features
A common form of X-linked ichthyosis (308100), also known as steroid sulfatase deficiency, is caused by mutation in the STS gene (300747). Robledo et al. (1995) described a Sardinian kindred in which congenital ichthyosis was associated with normal levels of steroid sulfatase and a normal patte... | ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY | c2720163 | 6,543 | omim | https://www.omim.org/entry/300001 | 2019-09-22T16:21:09 | {"mesh": ["D016114"], "omim": ["300001"], "orphanet": ["461"]} |
A number sign (#) is used with this entry because of evidence that Eiken syndrome is caused by homozygous mutation in the PTHR1 gene (168468) on chromosome 3p21.
Clinical Features
In a consanguineous Turkish family living in Denmark, Eiken et al. (1984) described 3 brothers with a skeletal dysplasia characterized b... | EIKEN SYNDROME | c1838779 | 6,544 | omim | https://www.omim.org/entry/600002 | 2019-09-22T16:16:45 | {"mesh": ["C564010"], "omim": ["600002"], "orphanet": ["79106"], "synonyms": ["Alternative titles", "EIKEN SKELETAL DYSPLASIA", "BONE MODELING DEFECT OF HANDS AND FEET"]} |
A number sign (#) is used with this entry because neonatal Bartter syndrome type 4A with sensorineural deafness (BARTS4A) is caused by homozygous or compound heterozygous mutation in the BSND gene (606412) on chromosome 1p32.
Description
Bartter syndrome refers to a group of disorders that are unified by autosomal ... | BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS | c0004775 | 6,545 | omim | https://www.omim.org/entry/602522 | 2019-09-22T16:13:38 | {"doid": ["0110145"], "mesh": ["D001477"], "omim": ["602522"], "orphanet": ["89938", "112"], "synonyms": ["Alternative titles", "Bartter syndrome type IV", "Bartter syndrome type 4", "BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS"]} |
A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and r... | Acute megakaryoblastic leukemia | c0023462 | 6,546 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=518 | 2021-01-23T18:36:59 | {"gard": ["524"], "mesh": ["D007947"], "umls": ["C0023462"], "icd-10": ["C94.2"], "synonyms": ["AMKL", "AML M7", "Acute megakaryocytic leukemia", "Acute myeloid leukemia M7"]} |
Epidermolysis bullosa dystrophica
Other namesDystrophic EB
SpecialtyMedical genetics
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs.[1][2]
"Butterfly child" is the colloquial name for a child born with the disease, as their skin is seen t... | Epidermolysis bullosa dystrophica | c0079294 | 6,547 | wikipedia | https://en.wikipedia.org/wiki/Epidermolysis_bullosa_dystrophica | 2021-01-18T19:10:35 | {"gard": ["2150"], "mesh": ["D016108"], "umls": ["C0079294"], "icd-9": ["757.39"], "orphanet": ["303"], "wikidata": ["Q3589131"]} |
Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, us... | Neurodegeneration with brain iron accumulation | c2931845 | 6,548 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=385 | 2021-01-23T18:24:13 | {"gard": ["11899"], "mesh": ["C538421"], "umls": ["C2931845"], "icd-10": ["G23.0"], "synonyms": ["NBIA"]} |
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anoph... | Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome | c4304035 | 6,549 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1101 | 2021-01-23T18:46:11 | {"gard": ["717"], "icd-10": ["Q87.8"], "synonyms": ["Cassia Stocco dos Santos syndrome"]} |
A number sign (#) is used with this entry because of evidence that familial erythrocytosis-5 (ECYT5) is caused by heterozygous mutation in the EPO gene (133170) on chromosome 7q22.
Description
Erythrocytosis-5 is an autosomal dominant clinical condition characterized by increased red cell mass and typically elevate... | ERYTHROCYTOSIS, FAMILIAL, 5 | c4693552 | 6,550 | omim | https://www.omim.org/entry/617907 | 2019-09-22T15:44:27 | {"omim": ["617907"]} |
A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
... | X-linked complicated spastic paraplegia type 1 | c0795953 | 6,551 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306617 | 2021-01-23T17:02:01 | {"gard": ["12525"], "mesh": ["C536029"], "synonyms": ["SPG1"]} |
Familial encephalopathy with neuroserpin inclusion bodies
SpecialtyNeurology
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a progressive disorder of the nervous system that is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may ... | Familial encephalopathy with neuroserpin inclusion bodies | c1858680 | 6,552 | wikipedia | https://en.wikipedia.org/wiki/Familial_encephalopathy_with_neuroserpin_inclusion_bodies | 2021-01-18T18:36:58 | {"gard": ["10037"], "mesh": ["C536841"], "umls": ["C1858680"], "orphanet": ["85110"], "wikidata": ["Q5432935"]} |
Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood c... | Pyruvate kinase deficiency | c0340968 | 6,553 | medlineplus | https://medlineplus.gov/genetics/condition/pyruvate-kinase-deficiency/ | 2021-01-27T08:24:42 | {"gard": ["7514"], "mesh": ["C564858"], "omim": ["266200"], "synonyms": []} |
Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.
## Epidemiology
To date, more than 15 families showing microcornea-cataract syndrome have been described.
## Clinical description
Clinical findings include a ... | Cataract-microcornea syndrome | c1861829 | 6,554 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1377 | 2021-01-23T18:43:42 | {"gard": ["1155"], "mesh": ["C538287"], "omim": ["115700", "116200", "601547", "604219"], "umls": ["C1861829"], "icd-10": ["Q13.8"]} |
A number sign (#) is used with this entry because of evidence that microphthalmia with associated features (MCOPS5), including pituitary dysfunction, is caused by heterozygous mutation in the OTX2 gene (600037) on chromosome 14q22. There is also evidence that early-onset retinal dystrophy with or without pituitary dy... | MICROPHTHALMIA, SYNDROMIC 5 | c1864690 | 6,555 | omim | https://www.omim.org/entry/610125 | 2019-09-22T16:05:06 | {"doid": ["10629"], "mesh": ["C566441"], "omim": ["610125"], "orphanet": ["178364", "99001"], "genereviews": ["NBK1378"]} |
Balamuthia infection
SpecialtyDermatology
Balamuthia infection is a cutaneous condition resulting from Balamuthia that may result in various skin lesions.[1]:422
Balamuthia mandrillarisis a free-living amoeba (a single-celled living organism) found in the environment. It is one of the causes of granulomatous ... | Balamuthia infection | c2721655 | 6,556 | wikipedia | https://en.wikipedia.org/wiki/Balamuthia_infection | 2021-01-18T19:05:41 | {"mesh": ["D000562"], "umls": ["C2721655"], "icd-9": ["136.2"], "wikidata": ["Q4849924"]} |
Squamous cell carcinoma (SCC) of rectum is a rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific,... | Squamous cell carcinoma of the rectum | c1335690 | 6,557 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424002 | 2021-01-23T17:20:16 | {"umls": ["C1335690"], "icd-10": ["C20"], "synonyms": ["Rectal squamous cell carcinoma"]} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
Hirschhorn et al. (2001) used genomewide scans in 4 populations (the Botnia region of Finland, other parts of Finland, southern Sweden, and a region of Quebec) for which genotyping, height, age, an... | STATURE QUANTITATIVE TRAIT LOCUS 2 | c1853476 | 6,558 | omim | https://www.omim.org/entry/606256 | 2019-09-22T16:10:31 | {"omim": ["606256"]} |
Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiff... | Friedreich ataxia | c1856689 | 6,559 | medlineplus | https://medlineplus.gov/genetics/condition/friedreich-ataxia/ | 2021-01-27T08:25:41 | {"gard": ["6468"], "mesh": ["C565561"], "omim": ["229300"], "synonyms": []} |
A number sign (#) is used with this entry because autosomal recessive intermediate Charcot-Marie-Tooth disease C (CMTRIC) is caused by homozygous or compound heterozygous mutation in the PLEKHG5 gene (611101) on chromosome 1p36.
Mutation in the PLEKHG5 gene can also cause autosomal recessive distal spinal muscular a... | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C | c3809309 | 6,560 | omim | https://www.omim.org/entry/615376 | 2019-09-22T15:52:25 | {"doid": ["0110198"], "omim": ["615376"], "orphanet": ["369867"], "synonyms": ["CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C", "Alternative titles", "RI-CMT type C"]} |
## Description
Alt et al. (1986) identified the RMYC gene as a 12-kb cloned genomic EcoRI fragment that had homology to both the second and third exons of LMYC (164850); the authors considered it to be a member of the MYC (190080) gene family, along with NMYC (164840). Alt et al. (1986) and DePinho et al. (1987) st... | ONCOGENE RMYC | None | 6,561 | omim | https://www.omim.org/entry/165290 | 2019-09-22T16:37:07 | {"omim": ["165290"]} |
Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libi... | Sheehan syndrome | c0242342 | 6,562 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91355 | 2021-01-23T17:08:33 | {"gard": ["7630"], "mesh": ["D007018"], "umls": ["C0242342"], "icd-10": ["E23.0"]} |
Human disease that results in excess growth of certain parts of the body
Acromegaly
Pronunciation
* /ˌækrəˈmɛɡəli, -roʊ-/[1][2]
SpecialtyEndocrinology
SymptomsEnlargement of the hands, feet, forehead, jaw, and nose, thicker skin, deepening of the voice[3]
ComplicationsType 2 diabetes, sleep apnea, hi... | Acromegaly | c0001206 | 6,563 | wikipedia | https://en.wikipedia.org/wiki/Acromegaly | 2021-01-18T18:41:02 | {"gard": ["5725"], "mesh": ["D000172"], "umls": ["C0001206"], "icd-9": ["253.0"], "icd-10": ["E22.0"], "orphanet": ["963"], "wikidata": ["Q189580"]} |
## Clinical Features
Gorlin (1978) described 3 sons of 2 sisters who had multiple impacted teeth. The woman who mothered 2 of the boys was related to her husband as first cousin.
Mercuri and O'Neill (1980) reported 2 sisters with multiple impacted and supernumerary teeth (a total of 27 in one of them) (see 187... | IMPACTED TEETH, MULTIPLE | c1839965 | 6,564 | omim | https://www.omim.org/entry/308280 | 2019-09-22T16:18:03 | {"omim": ["308280"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 2 (MC1DN2) is caused by homozygous or compound heterozygous mutation in the NDUFS8 gene (602141) on chromosome 11q13.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see... | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | c2936907 | 6,565 | omim | https://www.omim.org/entry/618222 | 2019-09-22T15:43:03 | {"mesh": ["C537475"], "omim": ["618222"], "orphanet": ["2609", "255241"]} |
Lutembacher's syndrome
This condition affects the atrium
SpecialtyMedical genetics
Lutembacher's syndrome is a very rare[1] form of congenital heart disease that affects one of the chambers of the heart (commonly the atria) as well as a valve (commonly the mitral valve). It is commonly known as both congenit... | Lutembacher's syndrome | c0024164 | 6,566 | wikipedia | https://en.wikipedia.org/wiki/Lutembacher%27s_syndrome | 2021-01-18T19:05:00 | {"mesh": ["D008185"], "umls": ["C0024164"], "icd-9": ["745.5"], "icd-10": ["Q21.1"], "wikidata": ["Q6705425"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant striatal degeneration-2 (ADSD2) is caused by heterozygous mutation in the PDE10A gene (610652) on chromosome 6q27.
Biallelic mutation in the PDE10A gene causes an autosomal recessive infantile-onset limb and orofacial dyskinesi... | STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 | c4310791 | 6,567 | omim | https://www.omim.org/entry/616922 | 2019-09-22T15:47:28 | {"omim": ["616922"], "orphanet": ["494541"], "synonyms": []} |
A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and faci... | Distal Xq28 microduplication syndrome | c2749007 | 6,568 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293939 | 2021-01-23T18:09:10 | {"mesh": ["C567580"], "omim": ["300815"], "icd-10": ["Q99.8"], "synonyms": ["Distal dup(X)q(28)", "Distal trisomy Xq28"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to otitis media may be conferred by variation in the A2ML1 gene (610627) on chromosome 12p13.
Inheritance
A genetic contribution to susceptibility to otitis media is suggested by racial variations; the frequency is unusually high in A... | OTITIS MEDIA, SUSCEPTIBILITY TO | c1833692 | 6,569 | omim | https://www.omim.org/entry/166760 | 2019-09-22T16:36:50 | {"omim": ["166760"], "synonyms": ["Alternative titles", "OTITIS MEDIA, CHRONIC/RECURRENT", "COME/ROM"]} |
A number sign (#) is used with this entry because of evidence that foveal hypoplasia-2 with or without optic nerve misrouting and/or anterior segment dysgenesis (FVH2) is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene (615585) on chromosome 16q23.
Description
Foveal hypoplasia is defined... | FOVEAL HYPOPLASIA 2 | c3807873 | 6,570 | omim | https://www.omim.org/entry/609218 | 2019-09-22T16:06:31 | {"omim": ["609218"], "orphanet": ["397618"], "synonyms": ["FHONDA syndrome", "Alternative titles", "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM", "FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS"]} |
Sclerosing rhabdomyosarcoma
SpecialtyOncology
Sclerosing rhabdomyosarcoma is a rare subtype of rhabdomyosarcoma that was characterized by Folpe et al. in 2002.[citation needed] It is microscopically characterized by primitive round cells forming microalveoli, nests, and cords in a sclerotic background.[1]
## ... | Sclerosing rhabdomyosarcoma | c4048700 | 6,571 | wikipedia | https://en.wikipedia.org/wiki/Sclerosing_rhabdomyosarcoma | 2021-01-18T19:09:39 | {"umls": ["C4048700"], "wikidata": ["Q7434193"]} |
Schizoaffective disorder is a mental health condition that includes features of both schizophrenia and a mood disorder such as bipolar disorder or depression. The prefix "schizo-" refers to the psychotic symptoms of schizophrenia that affect a person's thinking, sense of self, and perceptions. The term "-affectiv... | Schizoaffective disorder | c0036341 | 6,572 | medlineplus | https://medlineplus.gov/genetics/condition/schizoaffective-disorder/ | 2021-01-27T08:24:36 | {"mesh": ["D012559"], "omim": ["181500"], "synonyms": []} |
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from a... | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | c3888018 | 6,573 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276598 | 2021-01-23T18:38:51 | {"mesh": ["D044903"], "omim": ["256450"], "icd-10": ["E16.1"], "synonyms": ["Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form"]} |
A number sign (#) is used with this entry because of evidence that geleophysic dysplasia-1 (GPHYSD1) is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 gene (612277) on chromosome 9q34.
Description
Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short statur... | GELEOPHYSIC DYSPLASIA 1 | c3489726 | 6,574 | omim | https://www.omim.org/entry/231050 | 2019-09-22T16:27:39 | {"mesh": ["C535662"], "omim": ["231050"], "orphanet": ["2623"], "genereviews": ["NBK11168"]} |
Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremitie... | Charcot-Marie-Tooth disease type 4A | c1859198 | 6,575 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99948 | 2021-01-23T18:07:43 | {"gard": ["1252"], "mesh": ["C535419"], "omim": ["214400"], "umls": ["C1859198"], "icd-10": ["G60.0"], "synonyms": ["CMT4A"]} |
## Description
Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMT neuropathy is subdivided into CMT1 (see 118200) an... | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A | c1847896 | 6,576 | omim | https://www.omim.org/entry/606483 | 2019-09-22T16:10:22 | {"doid": ["0110202"], "mesh": ["C564702"], "omim": ["606483"], "orphanet": ["100043"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE A", "DI-CMTA"]} |
Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.
## Ep... | Distal renal tubular acidosis | c1704380 | 6,577 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=18 | 2021-01-23T18:55:32 | {"gard": ["4667"], "mesh": ["D000141"], "omim": ["179800", "267300", "602722", "611590"], "umls": ["C0259810", "C1704380"], "icd-10": ["N25.8"], "synonyms": ["Classic RTA", "Familial distal primary acidosis", "Renal tubular acidosis type 1", "dRTA"]} |
Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. Signs and symptoms can vary from person to person. Some people may not have symptoms, while others develop severe and persistent symptoms. Symptoms may incl... | Renal nutcracker syndrome | c3178770 | 6,578 | gard | https://rarediseases.info.nih.gov/diseases/11971/renal-nutcracker-syndrome | 2021-01-18T17:57:58 | {"mesh": ["D059228"], "orphanet": ["71273"], "synonyms": ["Nutcracker syndrome", "Left renal vein entrapment syndrome", "RNS"]} |
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).
## Epidemiology
T... | Blue cone monochromatism | c0339537 | 6,579 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16 | 2021-01-23T18:46:55 | {"gard": ["917"], "mesh": ["C536238", "C538165"], "omim": ["303700"], "umls": ["C0339537", "C2931753"], "icd-10": ["H53.5"], "synonyms": ["Atypical X-linked achromatopsia", "Blue cone monochromacy", "Color blindness, blue monocone monochromatic type", "S cone monochromacy", "S cone monochromatism", "X-linked incomplete... |
Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.
## Epidemiology
It has been described only once, in several members of a singl... | Congenitally short costocoracoid ligament | c1852523 | 6,580 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2391 | 2021-01-23T17:03:35 | {"gard": ["1551"], "mesh": ["C536448"], "omim": ["122580"], "umls": ["C1852523"], "icd-10": ["Q68.8"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant nonsyndromic thrombocytopenia-4 (THC4) is caused by heterozygous mutation in the CYCS gene (123970) on chromosome 7p15.
For a phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.
Clinic... | THROMBOCYTOPENIA 4 | c2677608 | 6,581 | omim | https://www.omim.org/entry/612004 | 2019-09-22T16:02:33 | {"doid": ["1588"], "mesh": ["C567438"], "omim": ["612004"], "orphanet": ["168629", "268322"], "synonyms": ["Alternative titles", "THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4"]} |
## Summary
### Clinical characteristics.
Arts syndrome, which is part of the spectrum of PRPS1-related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infect... | Arts Syndrome | c0796028 | 6,582 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK2591/ | 2021-01-18T21:42:43 | {"mesh": ["C535388"], "synonyms": []} |
A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilat... | Congenital pseudoarthrosis of the tibia | c0265661 | 6,583 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295018 | 2021-01-23T17:01:19 | {"umls": ["C0265661"], "icd-10": ["Q74.2"], "synonyms": ["Congenital pseudarthrosis of the tibia"]} |
Aerobic vaginitis
Aerobic vaginitis (in a 14-week pregnant woman): parabasal cells, absent lactobacilli and overgrowth of other bacilli, inflammation
SpecialtyGynecology
Aerobic vaginitis (AV) is a form of vaginitis first described by Donders et al. in 2002.[1][2] It is characterized by a more or less severe... | Aerobic vaginitis | None | 6,584 | wikipedia | https://en.wikipedia.org/wiki/Aerobic_vaginitis | 2021-01-18T18:50:08 | {"wikidata": ["Q23844400"]} |
Nickel allergy
SpecialtyAllergology, immunology
Nickel allergy or nickel allergic contact dermatitis (Ni-ACD) is a form of allergic contact dermatitis (ACD) caused by exposure to the chemical element nickel.
## Contents
* 1 Physiology
* 2 Syndromes
* 3 History
* 4 Sources of Ni-ACD
* 4.1 Food... | Nickel allergy | None | 6,585 | wikipedia | https://en.wikipedia.org/wiki/Nickel_allergy | 2021-01-18T18:46:26 | {"icd-9": ["995.3"], "icd-10": ["L23.0"], "wikidata": ["Q16606544"]} |
A number sign (#) is used with this entry because of evidence that congenital cataract-45 (CTRCT45) is caused by homozygous mutation in the SIPA1L3 gene (616655) on chromosome 19q13. One such family has been reported.
Clinical Features
Evers et al. (2015) studied a German family in which 2 of 3 sisters, born of fou... | CATARACT 45 | c4225182 | 6,586 | omim | https://www.omim.org/entry/616851 | 2019-09-22T15:47:44 | {"doid": ["0110262"], "omim": ["616851"], "icd-10": ["Q12.0"], "orphanet": ["91492"], "synonyms": []} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Idioventricular rhythm" – news · newspapers · books · scholar · JSTOR (May 2020) (Learn how and when to remove this tem... | Idioventricular rhythm | c0700363 | 6,587 | wikipedia | https://en.wikipedia.org/wiki/Idioventricular_rhythm | 2021-01-18T18:55:53 | {"umls": ["C0700363"], "wikidata": ["Q5989048"]} |
A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Wal... | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | None | 6,588 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=556985 | 2021-01-23T19:06:26 | {} |
Noma neonatorum
SpecialtyDermatology
Noma neonatorum is a cutaneous condition, a manifestation of infection, usually Pseudomonas aeruginosa sepsis, and has been reported almost exclusively in developing countries.[1] Despite the similarity of facial lesions, noma neonatorum is not related to noma.[2]
## See a... | Noma neonatorum | c2930832 | 6,589 | wikipedia | https://en.wikipedia.org/wiki/Noma_neonatorum | 2021-01-18T18:39:29 | {"mesh": ["C531760"], "umls": ["C2930832"], "wikidata": ["Q7048374"]} |
Arthrogryposis
Other namesArthrogryposis multiplex congenita (AMC)
Drawing of an infant with arthrogryposis
SpecialtyMedical genetics
Arthrogryposis, describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints" (arthron, ... | Arthrogryposis | c1859721 | 6,590 | wikipedia | https://en.wikipedia.org/wiki/Arthrogryposis | 2021-01-18T18:36:00 | {"gard": ["790"], "mesh": ["C536614"], "umls": ["C1859721"], "icd-9": ["754.89", "728.3"], "orphanet": ["1143"], "wikidata": ["Q708165"]} |
## Clinical Features
Weisdorf and Krivit (1982) and McKinley et al. (1987) described a syndrome of massive splenomegaly with reduced circulating T helper cells and splenic germinal center hypoplasia. The first patient of McKinley et al. (1987) was a 33-year-old male in whom splenomegaly was detected at birth, a... | SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND REDUCED CIRCULATING T HELPER CELLS | c1866744 | 6,591 | omim | https://www.omim.org/entry/183350 | 2019-09-22T16:34:29 | {"mesh": ["C566666"], "omim": ["183350"]} |
A number sign (#) is used with this entry because of evidence that nephrotic syndrome type 13 (NPHS13) is caused by homozygous mutation in the NUP205 gene (614352) on chromosome 7q33. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndro... | NEPHROTIC SYNDROME, TYPE 13 | c1868672 | 6,592 | omim | https://www.omim.org/entry/616893 | 2019-09-22T15:47:31 | {"doid": ["0080381"], "mesh": ["C536404"], "omim": ["616893"], "orphanet": ["656"]} |
Histidinemia is an inherited condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is caused by the shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most people with elevated hi... | Histidinemia | c0220992 | 6,593 | medlineplus | https://medlineplus.gov/genetics/condition/histidinemia/ | 2021-01-27T08:25:26 | {"gard": ["6661"], "mesh": ["C538320"], "omim": ["235800"], "synonyms": []} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (April 2015) (Learn how and when to remove this template message)
Propofol infusion syndrome... | Propofol infusion syndrome | c1328409 | 6,594 | wikipedia | https://en.wikipedia.org/wiki/Propofol_infusion_syndrome | 2021-01-18T19:01:18 | {"mesh": ["D000072736"], "umls": ["C1328409"], "wikidata": ["Q7250346"]} |
A number sign (#) is used with this entry because of evidence that hereditary motor and sensory neuropathy type VIC with optic atrophy (HMSN6C) is caused by homozygous mutation in the PDXK gene (179020) on chromosome 21q22.
Description
Hereditary motor and sensory neuropathy type VIC with optic atrophy (HMSN6C)... | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY | None | 6,595 | omim | https://www.omim.org/entry/618511 | 2019-09-22T15:41:37 | {"omim": ["618511"], "synonyms": ["Alternative titles", "HMSN VIC", "CHARCOT-MARIE-TOOTH DISEASE, TYPE 6C"]} |
Chorangioma
Micrograph of a chorangioma (right of image). H&E stain.
SpecialtyGynecology
A chorangioma is a non-neoplastic, hamartoma-like growth in the placenta consisting of blood vessels.[1]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 Extern... | Chorangioma | c0677608 | 6,596 | wikipedia | https://en.wikipedia.org/wiki/Chorangioma | 2021-01-18T18:31:42 | {"mesh": ["D006391"], "umls": ["C0677608"], "wikidata": ["Q5104959"]} |
A group of rare immunodeficiency-associated lymphoproliferative disorders characterized by lymphoid or plasmacytic proliferations developing in the context of immunosuppression in a recipient of a solid organ or stem cell allograft. The group includes non-destructive post-transplant lymphoproliferative disorders ... | Post-transplant lymphoproliferative disease | c0432487 | 6,597 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70568 | 2021-01-23T17:02:24 | {"gard": ["9553"], "umls": ["C0432487"], "icd-10": ["D47.9"], "synonyms": ["PTLD"]} |
A number sign (#) is used with this entry because it represents a phenotype that may be related to variation in the mitochondrial genome.
Lin et al. (1992) concluded that a specific mtDNA point mutation was associated with Alzheimer disease in 10 of 19 patients studied. Two types of mutations were found, both at mtD... | ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL | c1838990 | 6,598 | omim | https://www.omim.org/entry/502500 | 2019-09-22T16:16:49 | {"omim": ["502500"]} |
See also: Musculoskeletal injury
Musculoskeletal disorders
Carpal tunnel syndrome is a common musculoskeletal disorder, and is often treated with a splint.
SpecialtyRheumatology
Musculoskeletal disorders (MSDs) are injuries or pain in the human musculoskeletal system, including the joints, ligaments, muscle... | Musculoskeletal disorder | c0026857 | 6,599 | wikipedia | https://en.wikipedia.org/wiki/Musculoskeletal_disorder | 2021-01-18T18:48:48 | {"mesh": ["D009140"], "umls": ["C0026857"], "wikidata": ["Q4116663"]} |
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