text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
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2-Methylbutyryl-CoA dehydrogenase deficiency
Other names2-Methylbutyryl glycinuria or Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD),[1]
2-Methylbutyryl-CoA
2-Methylbutyryl-CoA dehydrogenase deficiency, is an autosomal recessive metabolic disorder.[2] It causes the body to be unable to p... | 2-Methylbutyryl-CoA dehydrogenase deficiency | c1864912 | 400 | wikipedia | https://en.wikipedia.org/wiki/2-Methylbutyryl-CoA_dehydrogenase_deficiency | 2021-01-18T18:29:53 | {"gard": ["10322"], "mesh": ["C566487"], "umls": ["C1864912"], "orphanet": ["79157"], "wikidata": ["Q4596905"]} |
Ring chromosome 16 is characterized by postnatal growth deficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay. To date, less than 10 cases have been reported in the medical literature.
*[v]: View this temp... | Ring chromosome 16 | c4706449 | 401 | gard | https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16 | 2021-01-18T17:57:53 | {"orphanet": ["96178"], "synonyms": ["Ring chromosome 16", "Ring 16", "Chromosome 16 ring", "R16"]} |
Extramammary Paget disease is a cancerous disease seen at various sites, most often in the anogenital region. The clinical features are usually those of eczematous eruptions with weeping and crust formation. This disease has been shown to be a skin manifestation of internal malignancy. In a study of 40 patients with ... | PAGET DISEASE, EXTRAMAMMARY | c0030186 | 402 | omim | https://www.omim.org/entry/167300 | 2019-09-22T16:36:46 | {"mesh": ["D010145"], "omim": ["167300"], "orphanet": ["2800"]} |
A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily ... | Arthrogryposis multiplex congenita | c0003886 | 403 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1037 | 2021-01-23T17:43:21 | {"gard": ["777"], "mesh": ["C536613", "D001176"], "umls": ["C2931264"], "icd-10": ["Q74.3"], "synonyms": ["AMC", "Multiple congenital arthrogryposis"]} |
## Clinical Features
Huson et al. (1993) described what they considered to be a previously unrecognized form of autosomal recessive spondyloepiphyseal dysplasia tarda in 3 sibs, the offspring of first-cousin Pakistani parents. In addition to the skeletal dysplasia, microcephaly, unusual facies, and moderate develop... | SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES | c1838653 | 404 | omim | https://www.omim.org/entry/600093 | 2019-09-22T16:16:42 | {"mesh": ["C564003"], "omim": ["600093"]} |
A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
*[v]: View this template
*[t]: Discuss this... | Pancytopenia due to IKZF1 mutations | c4225173 | 405 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317473 | 2021-01-23T17:59:29 | {"omim": ["616873"], "icd-10": ["D81.8"], "synonyms": ["CID due to IKAROS deficiency", "Combined immunodeficiency due to IKAROS deficiency"]} |
Steroid dementia syndrome
SpecialtyNeurology/psychiatry
Steroid dementia syndrome describes the signs and symptoms of hippocampal and prefrontal cortical dysfunction, such as deficits in memory, attention, and executive function, induced by glucocorticoids.[1] Dementia-like symptoms have been found in some ind... | Steroid dementia syndrome | None | 406 | wikipedia | https://en.wikipedia.org/wiki/Steroid_dementia_syndrome | 2021-01-18T18:33:28 | {"wikidata": ["Q17155309"]} |
A number sign (#) is used with this entry because of evidence that this Marfan-like syndrome can be caused by mutation in the gene encoding fibrillin (FBN1; 134797) on chromosome 15q21.1.
Clinical Features
Glesby and Pyeritz (1989) pointed out that more than half of a large number of patients evaluated in the m... | MASS SYNDROME | c1858556 | 407 | omim | https://www.omim.org/entry/604308 | 2019-09-22T16:12:13 | {"mesh": ["C536030"], "omim": ["604308"], "orphanet": ["99715"], "synonyms": ["Alternative titles", "Mitral valve-aorta-skeleton-skin syndrome", "MASS PHENOTYPE", "OVERLAP CONNECTIVE TISSUE DISEASE"]} |
Human disease
Adult T-cell leukemia/lymphoma
Human T-cell(normal)
SpecialtyOncology, hematology
Adult T-cell leukemia/lymphoma (ATL or ATLL) is a rare cancer of the immune system's T-cells[1][2][3] caused by human T cell leukemia/lymphotropic virus type 1 (HTLV-1).[4]
## Contents
* 1 Signs and symptoms
... | Adult T-cell leukemia/lymphoma | c0023493 | 408 | wikipedia | https://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma | 2021-01-18T18:37:09 | {"gard": ["13103"], "mesh": ["D015459"], "umls": ["C0023493"], "icd-9": ["204.0", "208.9"], "orphanet": ["86875"], "wikidata": ["Q379054"]} |
A number sign (#) is used with this entry because 15 to 20% of cases of familial amyotrophic lateral sclerosis (FALS), referred to here as ALS1, are associated with mutations in the superoxide dismutase-1 gene (SOD1; 147450) on chromosome 21q22. Although most cases of SOD1-related familial ALS follow autosomal do... | AMYOTROPHIC LATERAL SCLEROSIS 1 | c0002736 | 409 | omim | https://www.omim.org/entry/105400 | 2019-09-22T16:45:13 | {"doid": ["0060193"], "mesh": ["D000690"], "omim": ["105400"], "orphanet": ["803"], "synonyms": ["Alternative titles", "AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL DOMINANT"], "genereviews": ["NBK1450"]} |
A number sign (#) is used with this entry because primary pigmented nodular adrenocortical disease-1 (PPNAD1) is caused by heterozygous mutation in the protein kinase A regulatory subunit 1-alpha gene (PRKAR1A; 188830) on chromosome 17q.
Description
Primary pigmented micronodular adrenocortical disease is a form of... | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 | c1864846 | 410 | omim | https://www.omim.org/entry/610489 | 2019-09-22T16:04:26 | {"doid": ["0060280"], "mesh": ["C566469"], "omim": ["610489"], "orphanet": ["189439"], "synonyms": ["CUSHING SYNDROME, ADRENAL, DUE TO PPNAD1", "Primary pigmented nodular adrenal dysplasia", "PPNAD", "Alternative titles", "PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1", "ADRENOCORTICAL NODULAR DYSPLASIA, PR... |
Colitis X, equine colitis X or peracute toxemic colitis is a catchall term for various fatal forms of acute or peracute colitis found in horses, but particularly a fulminant colitis where clinical signs include sudden onset of severe diarrhea, abdominal pain, shock, and dehydration. Death is common, with 90% to 100% ... | Colitis-X | c0267550 | 411 | wikipedia | https://en.wikipedia.org/wiki/Colitis-X | 2021-01-18T18:55:38 | {"wikidata": ["Q5145774"]} |
This article is about humans. For other mammals, see pseudopregnancy.
False pregnancy
Other namesPhantom pregnancy, hysterical pregnancy, pseudocyesis, delusional pregnancy
SpecialtyPsychiatry
False pregnancy (or pseudocyesis, from the Greek pseudes "false" and kyesis "pregnancy"[1]) is the appearance of cl... | False pregnancy | c1827755 | 412 | wikipedia | https://en.wikipedia.org/wiki/False_pregnancy | 2021-01-18T19:01:49 | {"mesh": ["D011555"], "icd-9": ["300.11"], "icd-10": ["F45.8"], "wikidata": ["Q1065846"]} |
Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly... | Late-onset focal dermal elastosis | None | 413 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228227 | 2021-01-23T18:15:08 | {"synonyms": ["PXE-like late-onset focal dermal elastosis", "Pseudoxanthoma-like late-onset focal dermal elastosis"]} |
Meningiomas are tumors that originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are not cancerous (benign), though a minority of meningiomas can be classified as atypical or cancerous (malignant). Though rare, malignant meningiomas can be highly aggressive. However, even... | Meningioma | c0025286 | 414 | gard | https://rarediseases.info.nih.gov/diseases/7015/meningioma | 2021-01-18T17:59:09 | {"mesh": ["D008579"], "orphanet": ["2495"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-14 (SPGF14) is caused by homozygous mutation in the ZMYND15 gene (614312) on chromosome 17p13. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic fa... | SPERMATOGENIC FAILURE 14 | c4014454 | 415 | omim | https://www.omim.org/entry/615842 | 2019-09-22T15:50:50 | {"doid": ["0070179"], "omim": ["615842"], "orphanet": ["399805"], "synonyms": []} |
A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since... | Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome | c0342281 | 416 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2579 | 2021-01-23T17:55:38 | {"gard": ["2417"], "mesh": ["C562774", "C538193"], "omim": ["158500"], "umls": ["C0342281", "C2931765"], "icd-10": ["G11.0"], "synonyms": ["Furukawa-Takagi-Nakao syndrome"]} |
A number sign (#) is used with this entry because of evidence that Pilarowski-Bjornsson syndrome (PILBOS) is caused by heterozygous mutation in the CHD1 gene (602118) on chromosome 5q.
Description
Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development... | PILAROWSKI-BJORNSSON SYNDROME | c4540131 | 417 | omim | https://www.omim.org/entry/617682 | 2019-09-22T15:45:11 | {"omim": ["617682"], "orphanet": ["529965"], "synonyms": ["Pilarowski-Bjornsson syndrome", "Alternative titles", "DEVELOPMENTAL DELAY AND SPEECH APRAXIA WITH OR WITHOUT SEIZURES"]} |
Disease caused by nematodes of the genus Capillaria
Capillariasis is a disease caused by nematodes in the genus Capillaria.[1] The two principal forms of the disease are:
* Intestinal capillariasis, caused by Capillaria philippinensis
* Hepatic capillariasis, caused by Capillaria hepatica
## References[edit]
... | Capillariasis | c0006897 | 418 | wikipedia | https://en.wikipedia.org/wiki/Capillariasis | 2021-01-18T18:35:43 | {"mesh": ["D017189"], "umls": ["C0006897"], "wikidata": ["Q1034620"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of the punctate type of palmoplantar keratoderma, see PPKP1A (148600).
Clinical Features
Zhang et al. (2004) studied 2 unrelated Chinese families segregating autosomal dominant punctate palmoplantar keratoderma. In the first family, ... | PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IB | c3554145 | 419 | omim | https://www.omim.org/entry/614936 | 2019-09-22T15:53:42 | {"omim": ["614936"], "orphanet": ["79501"], "synonyms": ["Buschke-Fischer-Brauer syndrome", "Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type", "PPKP1"]} |
A number sign (#) is used with this entry because of evidence that Blau syndrome (BLAUS) is caused by heterozygous mutation in the NOD2/CARD15 gene (605956) on chromosome 16q12.
Description
Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it w... | BLAU SYNDROME | c1861303 | 420 | omim | https://www.omim.org/entry/186580 | 2019-09-22T16:32:54 | {"doid": ["0050678"], "mesh": ["C538157"], "omim": ["186580"], "icd-10": ["M04.8"], "orphanet": ["90340", "90341"], "synonyms": ["Alternative titles", "SARCOIDOSIS, EARLY-ONSET", "GRANULOMATOSIS, FAMILIAL JUVENILE SYSTEMIC", "ARTHROCUTANEOUVEAL GRANULOMATOSIS", "JABS SYNDROME", "GRANULOMATOUS INFLAMMATORY ARTHRITIS, DE... |
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in... | Hyperinsulinism due to HNF1A deficiency | c4303475 | 421 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324575 | 2021-01-23T17:21:19 | {"icd-10": ["E16.1"], "synonyms": ["Hyperinsulinemic hypoglycemia due to HNF1A deficiency"]} |
Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.
## Epidemiology
Approximately 80 cases have been described in the literature.
## Clinical description
The lesions are usually filled with fluid, tender and progress to form hardened plaques of edema and eryth... | Wells syndrome | c0343101 | 422 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=901 | 2021-01-23T18:47:05 | {"gard": ["329"], "mesh": ["C536693"], "umls": ["C0343101"], "icd-10": ["L98.3"], "synonyms": ["Eosinophilic cellulitis"]} |
See also: Agnosia
Akinetopsia (Greek: a for "without", kine for "to move" and opsia for "seeing"), also known as cerebral akinetopsia or motion blindness, is a neuropsychological disorder in which a patient cannot perceive motion in their visual field, despite being able to see stationary objects without issue.[1] T... | Akinetopsia | None | 423 | wikipedia | https://en.wikipedia.org/wiki/Akinetopsia | 2021-01-18T19:10:17 | {"wikidata": ["Q784564"]} |
Thought insertion is defined by the ICD-10 as feeling as if one's thoughts are not one's own, but rather belong to someone else and have been inserted into one's mind.[1][2][3][4] The person experiencing thought insertion will not necessarily know where the thought is coming from, but makes a distinction between thei... | Thought insertion | c0233687 | 424 | wikipedia | https://en.wikipedia.org/wiki/Thought_insertion | 2021-01-18T18:38:29 | {"wikidata": ["Q7796994"]} |
Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.
## Epidemiology
Prevalence of this form of corneal dystrophy is... | Posterior amorphous corneal dystrophy | c2748502 | 425 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98971 | 2021-01-23T18:10:53 | {"mesh": ["C567546"], "omim": ["612868"], "umls": ["C2748502"], "icd-10": ["H18.5"], "synonyms": ["PACD", "Posterior amorphous stromal dystrophy"]} |
Aphthous stomatitis
Other namesRecurrent aphthous stomatitis, recurring oral aphthae, recurrent aphthous ulceration
Canker sore on the lower lip
SpecialtyOral medicine, dermatology
Frequency~20% of people to some degree[1]
Aphthous stomatitis is a common condition characterized by the repeated formation ... | Aphthous stomatitis | c0038363 | 426 | wikipedia | https://en.wikipedia.org/wiki/Aphthous_stomatitis | 2021-01-18T18:43:24 | {"gard": ["5834"], "mesh": ["D013281"], "umls": ["C0038363"], "wikidata": ["Q189956"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).
Clinical Features
Zhao et al. (2008) reported a 4-generation Chinese family in which 7 individuals had pure spastic paraplegia inherited in an autosomal dominant pattern. ... | SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT | c3888208 | 427 | omim | https://www.omim.org/entry/613364 | 2019-09-22T15:58:52 | {"doid": ["0110793"], "omim": ["613364"], "orphanet": ["320355"], "synonyms": ["SPG41"]} |
GRIN2B related syndrome is a genetic disorder that causes developmental delay and intellectual disability. Intellectual disability ranges from mild to severe. Other symptoms may include low muscle tone (hypotonia), seizures, behavior problems including autistic features, abnormal movements, a very small head (microce... | GRIN2B related syndrome | c3151411 | 428 | gard | https://rarediseases.info.nih.gov/diseases/12851/grin2b-related-syndrome | 2021-01-18T18:00:11 | {"omim": ["613970"], "synonyms": ["GRIN2B-related intellectual disability", "Autosomal dominant intellectual disability-6", "GRIN2B encephalopathy", "Intellectual disability, autosomal dominant 6, with or without seizures", "GRIN2B-related neurodevelopmental disorder"]} |
Barth syndrome is a metabolic and neuromuscular disorder, occurring almost exclusively in males, that primarily affects the heart, immune system, muscles, and growth. It typically becomes apparent during infancy or early childhood, but the age of onset, associated symptoms and findings, and disease course varies cons... | Barth syndrome | c0574083 | 429 | gard | https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome | 2021-01-18T18:01:52 | {"mesh": ["D056889"], "omim": ["302060"], "umls": ["C0574083"], "orphanet": ["111"], "synonyms": ["BTHS", "3-methylglutaconic aciduria type II", "MGA type II", "Cardioskeletal myopathy with neutropenia and abnormal mitochondria", "TAZ defect"]} |
A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.
*[v]:... | Astroblastoma | c0334587 | 430 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251679 | 2021-01-23T17:14:10 | {"gard": ["10635"], "mesh": ["D018302"], "umls": ["C0334587"], "icd-10": ["C71.9"]} |
Timothy syndrome
SpecialtyNeurology
Timothy syndrome is a rare autosomal-dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythmias, structural heart defects, syndactyly (webbing of fingers and toes), and auti... | Timothy syndrome | c1832916 | 431 | wikipedia | https://en.wikipedia.org/wiki/Timothy_syndrome | 2021-01-18T19:01:18 | {"gard": ["9294"], "mesh": ["C536962"], "umls": ["C1832916"], "orphanet": ["768", "65283"], "wikidata": ["Q3508705"]} |
## Description
The Ehlers-Danlos syndrome shows phenotypic and genetic heterogeneity; see 130000. Marked joint hyperextensibility without skeletal deformity dominates the clinical picture of hypermobility-type EDS. Skin manifestations are relatively inconspicuous. Differentiation from familial joint laxity (147... | EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE | c0268337 | 432 | omim | https://www.omim.org/entry/130020 | 2019-09-22T16:41:48 | {"doid": ["14757"], "mesh": ["C536196"], "omim": ["130020"], "orphanet": ["285"], "synonyms": ["Alternative titles", "EHLERS-DANLOS SYNDROME, TYPE III", "EDS III", "BENIGN HYPERMOBILITY SYNDROME"], "genereviews": ["NBK1279"]} |
Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy). This condition is diagnosed most often in young children, but it can affect people of any age.
The episodes of nausea, vomiting, and lethargy last anywhere from an hour to 10 days. An affected person ... | Cyclic vomiting syndrome | c0152164 | 433 | medlineplus | https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome/ | 2021-01-27T08:24:50 | {"gard": ["6230"], "mesh": ["C536228"], "omim": ["500007"], "synonyms": []} |
Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.
People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia... | Hypermethioninemia | c1847720 | 434 | medlineplus | https://medlineplus.gov/genetics/condition/hypermethioninemia/ | 2021-01-27T08:25:27 | {"gard": ["10764", "13177", "8397"], "mesh": ["C564683"], "omim": ["606664", "613752", "250850"], "synonyms": []} |
A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or ... | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | c0268540 | 435 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=415 | 2021-01-23T18:01:34 | {"gard": ["2830"], "mesh": ["C538380"], "omim": ["238970"], "umls": ["C0268540"], "icd-10": ["E72.4"], "synonyms": ["HHH syndrome", "ORNT1 deficiency", "Ornithine carrier deficiency", "Ornithine translocase deficiency", "Triple H syndrome"]} |
Arthus reaction
SpecialtyEmergency medicine
In immunology, the Arthus reaction (/ˌɑːrˈtjuːs/) is a type of local type III hypersensitivity reaction. Type III hypersensitivity reactions are immune complex-mediated, and involve the deposition of antigen/antibody complexes mainly in the vascular walls, serosa (pl... | Arthus reaction | c0003907 | 436 | wikipedia | https://en.wikipedia.org/wiki/Arthus_reaction | 2021-01-18T18:46:25 | {"mesh": ["D001183"], "umls": ["C0003907"], "wikidata": ["Q712320"]} |
Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the a... | Periventricular leukomalacia | c0023529 | 437 | gard | https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia | 2021-01-18T17:58:22 | {"mesh": ["D007969"], "umls": ["C0023529"], "orphanet": ["171676"], "synonyms": ["PVL"]} |
A number sign (#) is used with this entry because Seckel syndrome-5 is caused by homozygous or compound heterozygous mutation in the CEP152 gene (613529) on chromosome 15q21.
Description
Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental reta... | SECKEL SYNDROME 5 | c0265202 | 438 | omim | https://www.omim.org/entry/613823 | 2019-09-22T15:57:18 | {"doid": ["0070012"], "omim": ["613823"], "orphanet": ["808"]} |
A number sign (#) is used with this entry because of evidence that familial hyperinsulinemic hypoglycemia-4 is (HHF4) is caused by homozygous mutation in the gene encoding 3-hydroxyacyl-CoA dehydrogenase (HADH; 601609) on chromosome 4q25.
For a phenotypic description and discussion of genetic heterogeneity of famili... | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 | c1291230 | 439 | omim | https://www.omim.org/entry/609975 | 2019-09-22T16:05:17 | {"doid": ["0070215"], "mesh": ["C535310"], "omim": ["609975"], "orphanet": ["71212"], "genereviews": ["NBK1375"]} |
## Clinical Features
Neubauer et al. (2006) reported a 3-generation family from northern Germany in which 4 males had a disorder characterized by early-onset leukoencephalopathy associated with metaphyseal chondrodysplasia. Inheritance was consistent with an X-linked recessive pattern. The proband developed normall... | LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA | c1970840 | 440 | omim | https://www.omim.org/entry/300660 | 2019-09-22T16:19:50 | {"mesh": ["C567065"], "omim": ["300660"], "orphanet": ["83629"]} |
A pseudohallucination (from Ancient Greek: ψευδής (pseudḗs) "false, lying" + "hallucination") is an involuntary sensory experience vivid enough to be regarded as a hallucination, but considered by the person as subjective and unreal, unlike "true" hallucinations, which are considered real by patients with psychologic... | Pseudohallucination | c0233758 | 441 | wikipedia | https://en.wikipedia.org/wiki/Pseudohallucination | 2021-01-18T19:08:57 | {"umls": ["C0233758"], "icd-9": ["780.1"], "wikidata": ["Q2361468"]} |
Infantile acropustulosis
Other namesAcropustulosis of infancy[1]:483)
SpecialtyDermatology
Infantile acropustulosis is an intensely itchy vesicopustular eruption of the hands and feet.[2]:205
Involvement of scabies has been suggested.[3]infantile acropustulosis is characterized by itchy papules and vesicles... | Infantile acropustulosis | c0406787 | 442 | wikipedia | https://en.wikipedia.org/wiki/Infantile_acropustulosis | 2021-01-18T18:29:04 | {"umls": ["C0406787"], "wikidata": ["Q6029033"]} |
In the son of healthy, consanguineous Filipino parents, Marles and Chudley (1990) described congenital absence of the ulnars with oligodactyly and endocardial fibroelastosis. The baby showed hydrops fetalis and died soon after birth. Because of the presence of 2 major malformations and the parental consanguinity,... | ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS | c1848649 | 443 | omim | https://www.omim.org/entry/276822 | 2019-09-22T16:21:26 | {"mesh": ["C564756"], "omim": ["276822"]} |
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: "Pseudoporphyria" – news · newspapers · books · scholar · JSTOR (December 2008) (Learn how and when to remove this templ... | Pseudoporphyria | c0521616 | 444 | wikipedia | https://en.wikipedia.org/wiki/Pseudoporphyria | 2021-01-18T18:45:37 | {"umls": ["C0521616"], "icd-10": ["E80.2"], "wikidata": ["Q2246688"]} |
A number sign (#) is used with this entry because of evidence that peroxisomal fatty acyl-CoA reductase-1 disorder (PFCRD) is caused by homozygous or compound heterozygous mutation in the FAR1 gene (616107) on chromosome 11p15.
Description
Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessiv... | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER | c4015344 | 445 | omim | https://www.omim.org/entry/616154 | 2019-09-22T15:49:45 | {"omim": ["616154"], "orphanet": ["438178"], "synonyms": ["Severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency", "Severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder"]} |
A number sign (#) is used with this entry because mitochondrial DNA depletion syndrome-5 (MTDPS5) is caused by homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene (SUCLA2; 603921) on chromosome 13q14.
See MTDPS9 (245400) for a description of a similar disorder caused by ... | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) | c2749864 | 446 | omim | https://www.omim.org/entry/612073 | 2019-09-22T16:02:22 | {"doid": ["0080124"], "omim": ["612073"], "orphanet": ["254803", "1933"], "synonyms": ["mtDNA depletion syndrome, encephalomyopathic form", "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria", "MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDU... |
A number sign (#) is used with this entry because of evidence that hypotrichosis-13 (HYPT13) is caused by heterozygous mutation in the KRT71 gene (608245) on chromosome 12q13. One such family has been reported.
For a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 (605389).
Clinical Features
Fujimo... | HYPOTRICHOSIS 13 | c0343073 | 447 | omim | https://www.omim.org/entry/615896 | 2019-09-22T15:50:37 | {"doid": ["0110710"], "omim": ["615896"], "orphanet": ["170"], "synonyms": ["Alternative titles", "HYPOTRICHOSIS WITH WOOLLY HAIR"]} |
This article is about the replitilian disease. For other diseases, see Charcot disease.
Spinal osteoarthropathy (also known as Charcot's disease) is a rare disease affecting reptiles (including snakes[1] and lizards) which causes abnormal bone growth on vertebrae, giving the reptile a lumpy appearance. The growth of... | Spinal osteoarthropathy | None | 448 | wikipedia | https://en.wikipedia.org/wiki/Spinal_osteoarthropathy | 2021-01-18T18:43:04 | {"wikidata": ["Q7577471"]} |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (MTDPS9) affects the brain, nervous system, and muscles. Symptoms are different from person to person. They may include muscle weakness, hearing loss, and difficulty feeding and breathing. Other symptoms may include severe low m... | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | c2749864 | 449 | gard | https://rarediseases.info.nih.gov/diseases/3681/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-methylmalonic-aciduria | 2021-01-18T17:59:01 | {"omim": ["245400"], "umls": ["C2749864"], "synonyms": ["Mitochondrial encephalomyopathy aminoacidopathy", "Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive", "Booth-Haworth-Dilling syndrome", "mtDNA depletion syndrome, encephalomyopathic form with methylmal... |
Scalp–ear–nipple syndrome
Other namesFinlay-Marks syndrome
Scalp–ear–nipple syndrome is inherited in an autosomal dominant manner[1]
Scalp–ear–nipple syndrome (also known as "Finlay–Marks syndrome") is a condition associated with aplasia cutis congenita.[2]
## Contents
* 1 Presentation
* 2 Genetics
... | Scalp–ear–nipple syndrome | c1867020 | 450 | wikipedia | https://en.wikipedia.org/wiki/Scalp%E2%80%93ear%E2%80%93nipple_syndrome | 2021-01-18T19:06:52 | {"gard": ["159"], "mesh": ["C536623"], "umls": ["C1867020"], "orphanet": ["2036"], "wikidata": ["Q7429841"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-56 (MRD56) is caused by heterozygous mutation in the CLTC gene (118955) on chromosome 17q23.
Clinical Features
DeMari et al. (2016) reported a 3.5-year-old girl, conceived through in vitro fertilization, wit... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 | c4693389 | 451 | omim | https://www.omim.org/entry/617854 | 2019-09-22T15:44:38 | {"doid": ["0080226"], "omim": ["617854"], "orphanet": ["178469", "442835"], "synonyms": ["Undetermined EOEE"]} |
Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.
*[v]: View this template
*[t]: Discuss this te... | Shiga toxin-associated hemolytic uremic syndrome | c1856143 | 452 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90038 | 2021-01-23T18:54:12 | {"omim": ["235400"], "icd-10": ["D58.8"], "synonyms": ["D+ HUS", "EHEC-HUS", "Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli", "Hemolytic uremic syndrome with diarrhea", "STEC-HUS", "Shiga-like toxin-associated HUS", "Stx-HUS", "Typical HUS", "Typical hemolytic uremic syndrome"]} |
A number sign (#) is used with this entry because variation in the NPSR1 gene (608595) has been implicated in susceptibility to asthma-related traits linked to the 7p15-p14 region.
Description
Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsi... | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 | c1837811 | 453 | omim | https://www.omim.org/entry/608584 | 2019-09-22T16:07:36 | {"omim": ["608584"], "synonyms": ["Alternative titles", "ASRT2"]} |
This article is about the contagious skin disease. For the change in state from liquid to gas, see Boiling. For other uses, see Boil (disambiguation).
Boils
Furuncle
SpecialtyDermatology General surgery
SymptomsPainful, small, rough skin growth
Causesbacteria Ingrown hair
A boil, also called a furuncle,... | Boil | c0242301 | 454 | wikipedia | https://en.wikipedia.org/wiki/Boil | 2021-01-18T18:37:04 | {"mesh": ["D005667"], "icd-9": ["680.9"], "icd-10": ["L02"], "wikidata": ["Q193918"]} |
A number sign (#) is used with this entry because of evidence that retinal dystrophy and iris coloboma with or without congenital cataract (RDICC) is caused by heterozygous mutation in the MIR204 gene (610942) on chromosome 9q21. One such family has been reported.
Clinical Features
Conte et al. (2015) reported ... | RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT | c4225233 | 455 | omim | https://www.omim.org/entry/616722 | 2019-09-22T15:48:06 | {"omim": ["616722"], "orphanet": ["488197"], "synonyms": []} |
A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubul... | ALECT2 amyloidosis | None | 456 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=439224 | 2021-01-23T17:58:11 | {"icd-10": ["E85.8"], "synonyms": ["Leukocyte chemotactic factor-2 amyloidosis"]} |
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 challenged and removed.
Find sources: "Pregnancy over age 50" – news · newspapers... | Pregnancy over age 50 | None | 457 | wikipedia | https://en.wikipedia.org/wiki/Pregnancy_over_age_50 | 2021-01-18T18:34:22 | {"wikidata": ["Q2372105"]} |
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 challenged and removed.
Find sources: "Throat irritation" – news · newspapers · b... | Throat irritation | c0700184 | 458 | wikipedia | https://en.wikipedia.org/wiki/Throat_irritation | 2021-01-18T18:28:51 | {"umls": ["C0700184"], "wikidata": ["Q7798315"]} |
Uremic pericarditis
Pericarditis fibrinosa
SpecialtyUrology
Uremic pericarditis is a form of pericarditis. It causes fibrinous pericarditis.[1] The main cause of the disease is poorly understood.[2]
## Contents
* 1 Signs and symptoms
* 2 Pathology
* 3 Treatment
* 4 References
* 5 External links
... | Uremic pericarditis | c0265152 | 459 | wikipedia | https://en.wikipedia.org/wiki/Uremic_pericarditis | 2021-01-18T19:03:55 | {"icd-10": ["N18.8"], "wikidata": ["Q7900393"]} |
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early... | Beta-propeller protein-associated neurodegeneration | c3550973 | 460 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329284 | 2021-01-23T18:56:58 | {"gard": ["12570"], "omim": ["300894"], "icd-10": ["G23.0"], "synonyms": ["BPAN", "NBIA5", "Neurodegeneration with brain iron accumulation type 5", "SENDA", "Static encephalopathy of childhood with neurodegeneration in adulthood"]} |
Ocular albinism
SpecialtyEndocrinology
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.[2]:865
Both known genes are on the X chromosome. When the term "autosomal re... | Ocular albinism | c0078917 | 461 | wikipedia | https://en.wikipedia.org/wiki/Ocular_albinism | 2021-01-18T19:04:14 | {"mesh": ["D016117"], "icd-9": ["270.2"], "icd-10": ["E70.3"], "orphanet": ["284804"], "wikidata": ["Q2831905"]} |
Yunis et al. (1980) described a Colombian family in which 10 males in 3 generations, in a typical X-linked recessive pedigree pattern, had the Dyggve-Melchior-Clausen syndrome. The affected males varied in age from 13 to 15 years. Normal intelligence was another difference from the autosomal recessive form. The a... | DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED | c0265286 | 462 | omim | https://www.omim.org/entry/304950 | 2019-09-22T16:18:20 | {"mesh": ["C535726"], "omim": ["304950"], "orphanet": ["239"]} |
A number sign (#) is used with this entry because of evidence that hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) is caused by homozygous or compound heterozygous mutation in the P4HTM gene (614584) on chromosome 3p21.
Description
Hypotonia, hypo... | HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES | None | 463 | omim | https://www.omim.org/entry/618493 | 2019-09-22T15:41:40 | {"omim": ["618493"]} |
## Summary
### Clinical characteristics.
Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is progressive gait imbalance (mean... | Ataxia with Oculomotor Apraxia Type 1 | c1859598 | 464 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1456/ | 2021-01-18T21:42:33 | {"mesh": ["C538013"], "synonyms": ["AOA1"]} |
Small patella syndrome (SPS) is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all (aplastic). The hip (pelvic) bones may be weak, and the bones of the feet may not have formed correct... | Small patella syndrome | c1840061 | 465 | gard | https://rarediseases.info.nih.gov/diseases/3030/small-patella-syndrome | 2021-01-18T17:57:40 | {"mesh": ["C535540"], "omim": ["147891"], "umls": ["C1840061"], "orphanet": ["1509"], "synonyms": ["Scott-Taor syndrome", "Coxo-podo-patellar syndrome", "Ischiopatellar dysplasia", "Patella aplasia, coxa vara, tarsal synostosis", "Congenital coxa vara, patella aplasia and tarsal synostosis", "ischiocoxopodopatellar syn... |
A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated wh... | Hairy cell leukemia variant | c0349633 | 466 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300878 | 2021-01-23T18:35:17 | {"umls": ["C0349633"], "icd-10": ["C91.4"], "synonyms": ["HCL-v", "Leukemic reticuloendotheliosis variant", "Prolymphocytic variant of HCL", "Prolymphocytic variant of hairy cell leukemia"]} |
This article is about the wrist fracture. For the vertebral fracture, see Smith fracture.
Smith's fracture
Other namesReverse Colles' fracture, Goyrand-Smith's
Smith's fracture
SpecialtyOrthopedics
A Smith's fracture, is a fracture of the distal radius.[1] It is caused by a direct blow to the dorsal forea... | Smith's fracture | c0347795 | 467 | wikipedia | https://en.wikipedia.org/wiki/Smith%27s_fracture | 2021-01-18T18:35:09 | {"umls": ["C0347795"], "icd-9": ["813.41"], "icd-10": ["S52.5"], "wikidata": ["Q3752481"]} |
Atypical Rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of Rett syndrome but does not meet all the diagnostic criteria. Like the classic form of Rett syndrome, atypical Rett syndrome mostly affects girls. Children with atypical Rett syndrome can have symptom... | Atypical Rett syndrome | c2748910 | 468 | gard | https://rarediseases.info.nih.gov/diseases/4694/atypical-rett-syndrome | 2021-01-18T18:01:59 | {"mesh": ["C567576"], "umls": ["C2748910"], "orphanet": ["3095"], "synonyms": ["Rett like syndrome", "Rett syndrome variant"]} |
Apraxia
Apraxia is characterized by loss of the ability to execute or carry out learned purposeful movements
SpecialtyNeurology, Psychiatry
TreatmentPhysical therapy
Apraxia is a motor disorder caused by damage to the brain (specifically the posterior parietal cortex or corpus callosum[1]) in which the ind... | Apraxia | c3495144 | 469 | wikipedia | https://en.wikipedia.org/wiki/Apraxia | 2021-01-18T18:40:53 | {"gard": ["5838"], "mesh": ["D001072"], "icd-9": ["784.69", "438.81"], "icd-10": ["R48.2"], "wikidata": ["Q498916"]} |
## Clinical Features
Teebi et al. (1988) described an Arabic family with normal consanguineous parents and 5 children (3 males and 2 females) with some features of Aarskog syndrome (see 305400) in addition to unusual hair changes. The hair was coarse, dry, and relatively hypopigmented with widow's peak trait (1... | FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE | c1856871 | 470 | omim | https://www.omim.org/entry/227330 | 2019-09-22T16:27:58 | {"mesh": ["C535331"], "omim": ["227330"], "orphanet": ["1974"], "synonyms": ["Alternative titles", "AARSKOG-LIKE SYNDROME", "KUWAIT TYPE FACIODIGITOGENITAL SYNDROME"]} |
A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as ma... | Liver adenomatosis | None | 471 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=566841 | 2021-01-23T18:14:09 | {"synonyms": ["Hepatic adenomatosis"]} |
Whitehouse et al. (1988) studied the family of the fourth human example of anti-LKE (originally called Luke) and excluded close linkage to MNS, Rh, HLA, PI, Gm, and C6. They also showed that LKE is genetically independent of P1, K, Xg, Au, Se, and C3.
*[v]: View this template
*[t]: Discuss this template
*[... | BLOOD GROUP--LKE | c1862216 | 472 | omim | https://www.omim.org/entry/111130 | 2019-09-22T16:44:20 | {"omim": ["111130"], "synonyms": ["Alternative titles", "BLOOD GROUP--LUKE, FORMERLY"]} |
Prevalence of AIDS in Nigeria from 1991–2010. Includes predictions up to 2018.
HIV/AIDS in Nigeria was a concern in the 2000s, when an estimated seven million people had HIV/AIDS. In 2008, the HIV prevalence rate among adults aged between 15 and 49 was 3.9 percent, in 2018 the rate among adults aged between 15 and 6... | HIV/AIDS in Nigeria | None | 473 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Nigeria | 2021-01-18T18:59:53 | {"wikidata": ["Q5629871"]} |
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
## Clinical description
Onset occurs in adulthood (between 26 and 42 years of age) with sym... | Charcot-Marie-Tooth disease type 2B2 | c1854150 | 474 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101101 | 2021-01-23T18:12:13 | {"gard": ["1249"], "mesh": ["C537991"], "omim": ["605589"], "umls": ["C1854150"], "icd-10": ["G60.0"], "synonyms": ["AR-CMT2B2", "Autosomal recessive axonal CMT4C3", "Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2"]} |
Waldmann disease
Other namesWaldmann's disease, Primary intestinal lymphangiectasia
Waldmann disease is a rare disease[1] characterized by enlargement of the lymph vessels supplying the lamina propria of the small intestine.[2]
Although its prevalence is unknown, it being classified as a "rare disease" means ... | Waldmann disease | c2931241 | 475 | wikipedia | https://en.wikipedia.org/wiki/Waldmann_disease | 2021-01-18T19:10:43 | {"gard": ["7873"], "mesh": ["C536567"], "umls": ["C2931241", "C0267372"], "icd-9": ["457.1"], "icd-10": ["I89.0"], "orphanet": ["90362"], "wikidata": ["Q7961531"]} |
Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.
*[v]: View this template
*[t]: Discuss... | Inverse Marcus-Gunn phenomenon | None | 476 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98951 | 2021-01-23T17:31:16 | {"icd-10": ["Q07.8"]} |
Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.
## Epidemiology
The estimated prevalence of distal myopathy in the northern region of England is 1/300,000. Some forms have been identified with greater frequ... | Distal myopathy | c0751336 | 477 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=599 | 2021-01-23T18:09:32 | {"mesh": ["D049310"], "umls": ["C0751336"], "icd-10": ["G71.0"], "synonyms": ["Distal muscular dystrophy"]} |
3q29 microdeletion syndrome is a rare chromosome disorder. Symptoms may include delay reaching some developmental milestones such as sitting, walking or talking, frequent ear and respiratory infections, and a small head size (microcephaly). Some babies with this condition are born with a cleft lip or cleft palate, an... | 3q29 microdeletion syndrome | c2674949 | 478 | gard | https://rarediseases.info.nih.gov/diseases/11974/3q29-microdeletion-syndrome | 2021-01-18T17:57:00 | {"mesh": ["C567184"], "omim": ["609425"], "orphanet": ["65286"], "synonyms": ["3qter deletion", "Del(3)(q29)", "Monosomy 3qter", "Chromosome 3q29 microdeletion syndrome", "3q subtelomere deletion syndrome", "3q29 deletion", "Monosomy 3q29", "3q29 deletion syndrome"]} |
Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit th... | Cochleosaccular degeneration-cataract syndrome | c1861512 | 479 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3233 | 2021-01-23T17:23:27 | {"gard": ["9418"], "mesh": ["C536432"], "omim": ["120040"]} |
A number sign (#) is used with this entry because of evidence that Cohen-Gibson syndrome (COGIS) is caused by heterozygous mutation in the EED gene (605984) on chromosome 11q14.
Description
Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associat... | COHEN-GIBSON SYNDROME | c4479654 | 480 | omim | https://www.omim.org/entry/617561 | 2019-09-22T15:45:35 | {"omim": ["617561"], "genereviews": ["NBK540017"]} |
## Summary
### Clinical characteristics.
Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (which is most prominent during childhood and usually decreases after adol... | Kindler Syndrome | c0406557 | 481 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK349072/ | 2021-01-18T21:15:47 | {"mesh": ["C536321"], "synonyms": ["Congenital Bullous Poikiloderma"]} |
A number sign (#) is used with this entry because of evidence that spastic paraplegia-6 (SPG6) is caused by heterozygous mutation in the NIPA1 gene (608145) on chromosome 15q11.
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600)... | SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT | c1838192 | 482 | omim | https://www.omim.org/entry/600363 | 2019-09-22T16:16:13 | {"doid": ["0110811"], "mesh": ["C536866"], "omim": ["600363"], "orphanet": ["100988"], "synonyms": ["Alternative titles", "FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 3"]} |
A number sign (#) is used with this entry because of evidence that an intellectual developmental disorder with autism and speech delay (IDDAS) is caused by heterozygous mutation in the TBR1 gene (604616) on chromosome 2q.
Description
IDDAS is a neurodevelopmental disorder characterized by varying degrees of intelle... | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY | c1853755 | 483 | omim | https://www.omim.org/entry/606053 | 2019-09-22T16:10:47 | {"omim": ["606053"], "synonyms": ["Alternative titles", "PHRASE SPEECH DELAY, AUTISM-RELATED", "AUTISM-RELATED SPEECH DELAY", "AUTISM, SUSCEPTIBILITY TO, 5, FORMERLY"]} |
In 3 brothers and a sister out of 9 sibs of nonconsanguineous parents, Richieri-Costa et al. (1984) described a progressive disorder with onset usually at a mean age of 5.7 years and including myotonia, progressive impairment of gait, alterations in the thorax and vertebral column, short stature, and mild to moderate... | MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION | c2930978 | 484 | omim | https://www.omim.org/entry/255710 | 2019-09-22T16:24:34 | {"mesh": ["C535675"], "omim": ["255710"], "orphanet": ["3101"]} |
Norrie disease
SpecialtyMedical genetics
Norrie disease is a rare disease and genetic disorder that primarily affects the eyes and almost always leads to blindness. It is caused by mutations in the Norrin cystine knot growth factor (NDP) gene, which is located on the X chromosome.[1][2] In addition to the cong... | Norrie disease | c0266526 | 485 | wikipedia | https://en.wikipedia.org/wiki/Norrie_disease | 2021-01-18T18:44:32 | {"gard": ["7224"], "mesh": ["C537849"], "umls": ["C0266526"], "icd-9": ["743.8"], "orphanet": ["649"], "wikidata": ["Q1415842"]} |
Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ran... | Caudal regression-sirenomelia spectrum | None | 486 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444941 | 2021-01-23T18:43:24 | {} |
A number sign (#) is used with this entry because of evidence that multiple congenital anomalies-hypotonia-seizures syndrome-3 (MCAHS3) is caused by homozygous or compound heterozygous mutation in the PIGT gene (610272) on chromosome 20q13.
Description
Multiple congenital anomalies-hypotonia-seizures syndrome is an... | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 | c3809356 | 487 | omim | https://www.omim.org/entry/615398 | 2019-09-22T15:52:26 | {"doid": ["0080140"], "omim": ["615398"], "orphanet": ["369837"], "synonyms": ["Congenital disorder of glycosylation due to PIGT deficiency", "Multiple congenital anomalies-hypotonia-seizures syndrome type 3", "PIGT-CDG", "MCAHS type 3", "Alternative titles", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7"]} |
## Summary
### Clinical characteristics.
Autosomal dominant tubulointerstitial kidney disease, MUC1-related (ADTKD-MUC1) was previously known as medullary cystic kidney disease type 1. It is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for ... | Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related | c1868139 | 488 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK153723/ | 2021-01-18T21:41:25 | {"mesh": ["C536137"], "synonyms": ["ADTKD-MUC1", "MCKD1", "Medullary Cystic Kidney Disease Type 1"]} |
Beare–Stevenson cutis gyrata syndrome
Other namesCutis gyrata-acanthosis nigricans-craniosynostosis syndrome[1]
Diagnostic methodidentification of the p.Pro250Arg pathogenic variant in FGFR3; the diagnosis of FGFR2-related isolated coronal synostosis is based on identification of a FGFR2 pathogenic variant. The d... | Beare–Stevenson cutis gyrata syndrome | c1852406 | 489 | wikipedia | https://en.wikipedia.org/wiki/Beare%E2%80%93Stevenson_cutis_gyrata_syndrome | 2021-01-18T18:38:37 | {"gard": ["332"], "mesh": ["C565129"], "umls": ["C1852406"], "orphanet": ["1555"], "wikidata": ["Q4876717"]} |
Tracheobronchomalacia
Other namesExcessive Dynamic Airway Collapse
Trachea anatomy
SpecialtyPulmonology
SymptomsChronic cough, stridor, inability to raise secretions, breathlessness
Usual onsetFrom birth (Congenital ), Adulthood (Acquired)
DurationCongenital: Significant improvement after 18-24 months... | Tracheobronchomalacia | c0340231 | 490 | wikipedia | https://en.wikipedia.org/wiki/Tracheobronchomalacia | 2021-01-18T18:55:45 | {"gard": ["7791"], "mesh": ["D055089"], "umls": ["C0340231"], "wikidata": ["Q7831316"]} |
A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired ... | ALG12-CDG | c2931001 | 491 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79324 | 2021-01-23T18:53:08 | {"gard": ["9833"], "mesh": ["C535745"], "omim": ["607143"], "umls": ["C2931001"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type Ig", "CDG-Ig", "CDG1G", "Carbohydrate deficient glycoprotein syndrome type Ig", "Congenital disorder of glycosylation type 1g", "Congenital disorder of glycosylation type Ig", "Mannosyl... |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe ... | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | c4225261 | 492 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=477814 | 2021-01-23T16:55:54 | {"omim": ["616632"]} |
Epithelioid cell histiocytoma
SpecialtyDermatology
Epithelioid cell histiocytoma is a rare skin condition that is considered to be a variant of a dermatofibroma.[1]
## See also[edit]
* Pleomorphic lipoma
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jor... | Epithelioid cell histiocytoma | c1275242 | 493 | wikipedia | https://en.wikipedia.org/wiki/Epithelioid_cell_histiocytoma | 2021-01-18T18:54:21 | {"umls": ["C1275242"], "wikidata": ["Q5383706"]} |
Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma,... | Oculotrichoanal syndrome | c1855425 | 494 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2717 | 2021-01-23T18:22:13 | {"gard": ["3395"], "mesh": ["C536022"], "omim": ["248450"], "umls": ["C1855425"], "icd-10": ["Q87.8"], "synonyms": ["MOTA syndrome", "Manitoba oculotrichoanal syndrome", "Marles syndrome", "Marles-Greenberg-Persaud syndrome"]} |
A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.
## Epidemiology
The estimated prevalence at birth is less than 1/ 1 000 000. There are no availabl... | Familial platelet disorder with associated myeloid malignancy | c1832388 | 495 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71290 | 2021-01-23T18:45:14 | {"gard": ["10352"], "mesh": ["C563324"], "omim": ["601399", "616216"], "umls": ["C1832388"], "icd-10": ["D69.4"], "synonyms": ["FPD/AML", "FPDMM", "FPS/AML", "Familial platelet disorder with predisposition to acute myelogenous leukemia", "Familial platelet disorder with predisposition to myeloid malignancy", "Familial ... |
Amyoplasia is a condition characterized by a generalized lack in the newborn of muscular development and growth, with contracture and deformity at most joints. It is the most common form of arthrogryposis.[1]
It is characterized by the four limbs being involved, and by the replacement of skeletal muscle by dense fib... | Amyoplasia | c0432185 | 496 | wikipedia | https://en.wikipedia.org/wiki/Amyoplasia | 2021-01-18T19:05:22 | {"orphanet": ["488586"], "synonyms": ["Amyoplasia congenita"], "wikidata": ["Q4749575"]} |
A rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in c... | Tubular duplication of the esophagus | None | 497 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100048 | 2021-01-23T17:15:12 | {"icd-10": ["Q39.8"]} |
Dermatofibroma
Other namesDermal dendrocytoma,[1] Dermatofibroma,[2] Fibrous dermatofibroma,[2] Fibrous histiocytoma,[2] Fibroma simplex,[1] Nodular subepidermal fibrosis,[1] and Sclerosing hemangioma[1])
SpecialtyOncology
A dermatofibroma, or benign fibrous histiocytomas, is a benign skin growth.[3]
## Con... | Dermatofibroma | c1509148 | 498 | wikipedia | https://en.wikipedia.org/wiki/Dermatofibroma | 2021-01-18T18:49:59 | {"umls": ["C1509148"], "icd-9": ["216.9"], "icd-10": ["D23"], "wikidata": ["Q1200237"]} |
In the legal profession and courts, a querulant (from the Latin querulus \- "complaining") is a person who obsessively feels wronged, particularly about minor causes of action. In particular the term is used for those who repeatedly petition authorities or pursue legal actions based on manifestly unfounded ground... | Querulant | None | 499 | wikipedia | https://en.wikipedia.org/wiki/Querulant | 2021-01-18T18:57:34 | {"wikidata": ["Q252110"]} |
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