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A number sign (#) is used with this entry because of evidence that distal arthrogryposis type 1B (DA1B) is caused by heterozygous mutation in the MYBPC1 gene (160794) on chromosome 12q23.
For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).
... | ARTHROGRYPOSIS, DISTAL, TYPE 1B | c1852085 | 3,400 | omim | https://www.omim.org/entry/614335 | 2019-09-22T15:55:39 | {"doid": ["0050646"], "mesh": ["C565097"], "omim": ["614335"], "orphanet": ["1146"]} |
Iridocorneal endothelial syndrome
SpecialtyOphthalmology
Iridocorneal Endothelial (ICE) syndromes are a spectrum of diseases characterized by slowly progressive abnormalities of the corneal endothelium and features including corneal edema, iris distortion, and secondary angle-closure glaucoma. [1,2,4] ICE synd... | Iridocorneal endothelial syndrome | c0339285 | 3,401 | wikipedia | https://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome | 2021-01-18T19:07:31 | {"gard": ["60"], "mesh": ["D057129"], "orphanet": ["64734"], "wikidata": ["Q17121503"]} |
A number sign (#) is used with this entry because of evidence that photosensitive trichothiodystrophy-3 (TTD3) is caused by homozygous or compound heterozygous mutation in the TFB5 gene (GTF2H5; 608780), which encodes a subunit of the transcription/repair factor TFIIH, on chromosome 6q25.
Description
Trichothio... | TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE | c1955934 | 3,402 | omim | https://www.omim.org/entry/616395 | 2019-09-22T15:49:00 | {"mesh": ["D054463"], "omim": ["616395"], "orphanet": ["33364"], "synonyms": ["Alternative titles", "TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A"]} |
A number sign (#) is used with this entry because primary ciliary dyskinesia-7 (CILD7) is caused by homozygous or compound heterozygous mutation in the DNAH11 gene (603339) on chromosome 7p15.
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener synd... | CILIARY DYSKINESIA, PRIMARY, 7 | c2678473 | 3,403 | omim | https://www.omim.org/entry/611884 | 2019-09-22T16:02:40 | {"doid": ["0110605"], "mesh": ["C567504"], "omim": ["611884", "244400"], "orphanet": ["244"], "synonyms": ["Alternative titles", "CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS", "PCD"], "genereviews": ["NBK1122"]} |
Goldstein's toe sign
Differential diagnosisDown syndrome or cretinism
"Goldstein's Toe Sign" is a feature identified by Dr. Hyman Isaac Goldstein (1887–1954), an American physician and medical historian. A greater distance separates the largest two toes of some people exhibiting Down syndrome or cretinism."[1]... | Goldstein's toe sign | c3279012 | 3,404 | wikipedia | https://en.wikipedia.org/wiki/Goldstein%27s_toe_sign | 2021-01-18T18:49:13 | {"umls": ["C3279012", "C1840069"], "wikidata": ["Q5580342"]} |
A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defec... | Isolated amyelia | None | 3,405 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268868 | 2021-01-23T17:27:51 | {"icd-10": ["Q06.0"]} |
Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies.[1]
The following chromosome instability syndromes are known:
* Ataxia telangiectasia
* Ataxia telangiectas... | Chromosome instability syndrome | c1563697 | 3,406 | wikipedia | https://en.wikipedia.org/wiki/Chromosome_instability_syndrome | 2021-01-18T18:58:06 | {"mesh": ["D049914"], "wikidata": ["Q1087749"]} |
See also: Neonatal cephalic pustulosis
Benign cephalic histiocytosis
Other namesHistiocytosis with intracytoplasmic worm-like bodies[1]
SpecialtyHematology
Benign cephalic histiocytosis not to be confused with "Neonatal cephalic pustulosis" is a rare skin condition affecting boys and girls equally, char... | Benign cephalic histiocytosis | c0347403 | 3,407 | wikipedia | https://en.wikipedia.org/wiki/Benign_cephalic_histiocytosis | 2021-01-18T18:39:45 | {"umls": ["C0347403"], "icd-10": ["D76.3"], "orphanet": ["157997"], "wikidata": ["Q3136516"]} |
Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure.
## Epidemiology
Prevalence of this disease is not known. It appears to affect young infants (mean age 3.8 months found in a l... | Neuroendocrine cell hyperplasia of infancy | c3161105 | 3,408 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217560 | 2021-01-23T18:23:44 | {"umls": ["C3161105"], "synonyms": ["NCHI", "NEHI"]} |
Agenesis of the dorsal pancreas describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia, diabete... | Agenesis of the dorsal pancreas | c1868659 | 3,409 | gard | https://rarediseases.info.nih.gov/diseases/4203/agenesis-of-the-dorsal-pancreas | 2021-01-18T18:02:14 | {"mesh": ["C538109"], "omim": ["167755"], "umls": ["C1868659"], "orphanet": ["2805"], "synonyms": ["Pancreas, dorsal, agenesis of", "Pancreas agenesis, dorsal", "Complete agenesis of the dorsal pancreas", "Partial agenesis of the dorsal pancreas", "Congenital short pancreas", "Congenital pancreatic agenesis", "Partial ... |
Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (accumulate) in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammo... | Ornithine translocase deficiency | c0268540 | 3,410 | medlineplus | https://medlineplus.gov/genetics/condition/ornithine-translocase-deficiency/ | 2021-01-27T08:24:52 | {"gard": ["2830"], "mesh": ["C538380"], "omim": ["238970"], "synonyms": []} |
Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the poly... | Juvenile polyposis syndrome | c0345893 | 3,411 | medlineplus | https://medlineplus.gov/genetics/condition/juvenile-polyposis-syndrome/ | 2021-01-27T08:25:28 | {"gard": ["3065"], "mesh": ["C537702"], "omim": ["174900"], "synonyms": []} |
A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional m... | Hereditary orotic aciduria | c0220987 | 3,412 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=30 | 2021-01-23T17:56:57 | {"gard": ["5429"], "mesh": ["C537136"], "omim": ["258900"], "umls": ["C0220987", "C0268130"], "icd-10": ["E79.8"], "synonyms": ["Orotidylic decarboxylase deficiency", "Uridine monophosphate synthetase deficiency"]} |
Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).
*[v]: View this template
*[t]: Discuss this t... | REN-related autosomal dominant tubulointerstitial kidney disease | c2751310 | 3,413 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217330 | 2021-01-23T18:48:50 | {"mesh": ["C567760"], "omim": ["613092"], "umls": ["C2751310"], "synonyms": ["ADTKD-REN", "FJHN type 2", "Familial juvenile hyperuricemic nephropathy type 2", "REN-associated FJHN", "REN-associated familial juvenile hyperuricemic nephropathy", "REN-associated kidney disease"]} |
Waldenstrom macroglobulinemia is a chronic, slow-growing lymphoproliferative disorder. It usually affects older adults and is primarily found in the bone marrow, although lymph nodes and the spleen may be involved. Affected individuals have a high level of an antibody called immunoglobulin M (IgM) in their blood, whi... | Waldenstrom macroglobulinemia | c1835192 | 3,414 | gard | https://rarediseases.info.nih.gov/diseases/7872/waldenstrom-macroglobulinemia | 2021-01-18T17:57:08 | {"omim": ["153600"], "synonyms": ["Waldenstrom's macroglobulinaemia", "Lymphoplasmacytic lymphoma", "Waldenstrom's syndrome", "Macroglobulinemia of Waldenstrom"]} |
Pulmonary capillary hemangiomatosis
Pulmonary capillary hemangiomatosis is inherited in an autosomal recessive manner.
SpecialtyPulmonology
Pulmonary capillary hemangiomatosis (PCH) is a disease affecting the blood vessels of the lungs, where abnormal capillary proliferation and venous fibrous intimal thicke... | Pulmonary capillary hemangiomatosis | c0340548 | 3,415 | wikipedia | https://en.wikipedia.org/wiki/Pulmonary_capillary_hemangiomatosis | 2021-01-18T18:45:56 | {"gard": ["8527"], "mesh": ["C535861"], "umls": ["C0340548"], "orphanet": ["199241"], "wikidata": ["Q7259524"]} |
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. (May 2014) (Learn how and when to remove this template message)
Sulfuric acid poisoning ... | Sulfuric acid poisoning | None | 3,416 | wikipedia | https://en.wikipedia.org/wiki/Sulfuric_acid_poisoning | 2021-01-18T18:59:09 | {"wikidata": ["Q18386197"]} |
## Summary
### Clinical characteristics.
STXBP1 encephalopathy with epilepsy is characterized by early-onset encephalopathy with epilepsy (i.e., moderate to severe intellectual disability, refractory seizures, and ongoing epileptiform activity). The median age of onset of seizures is six weeks (range 1 day to 1... | STXBP1 Encephalopathy with Epilepsy | c2677326 | 3,417 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK396561/ | 2021-01-18T20:58:19 | {"mesh": ["C567404"], "synonyms": ["Early-Infantile Epileptic Encephalopathy 4 (EIEE4)", "STXBP1 Epileptic Encephalopathy"]} |
A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, an... | Alazami syndrome | c3554439 | 3,418 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319671 | 2021-01-23T18:00:49 | {"omim": ["615071"], "icd-10": ["Q87.1"], "synonyms": ["Microcephalic primordial dwarfism, Alazami type"]} |
A number sign (#) is used with this entry because of evidence that axial spondylometaphyseal dysplasia (SMDAX) is caused by homozygous or compound heterozygous mutation in the C21ORF2 gene (CFAP410; 603191) on chromosome 21q22.
Biallelic mutations in C21ORF2 have also been reported in patients with isolated retinal ... | SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL | c1865695 | 3,419 | omim | https://www.omim.org/entry/602271 | 2019-09-22T16:13:52 | {"mesh": ["C535795"], "omim": ["602271"], "orphanet": ["168549"], "synonyms": ["Alternative titles", "SMD, AXIAL", "AXIAL SMD"]} |
Horner's syndrome
Other namesBernard-Horner syndrome (BH), oculosympathetic palsy
Left-sided Horner's syndrome
SpecialtyNeurology
Horner's syndrome, also known as oculosympathetic paresis,[1] is a combination of symptoms that arises when a group of nerves known as the sympathetic trunk is damaged. The sign... | Horner's syndrome | c0019937 | 3,420 | wikipedia | https://en.wikipedia.org/wiki/Horner%27s_syndrome | 2021-01-18T18:44:48 | {"gard": ["6670"], "mesh": ["D006732"], "umls": ["C0019937"], "icd-9": ["337.9"], "wikidata": ["Q1126839"]} |
Bladder syndrome
Male urinary bladder
Underactive bladder
Other namesDetrusor underactivity
Underactive bladder syndrome (UAB) describes symptoms of difficulty with bladder emptying, such as hesitancy to start the stream, a poor or intermittent stream, or sensations of incomplete bladder emptying. The ph... | Underactive bladder | c0403644 | 3,421 | wikipedia | https://en.wikipedia.org/wiki/Underactive_bladder | 2021-01-18T18:31:25 | {"mesh": ["D000077295"], "umls": ["C0403644"], "wikidata": ["Q7883430"]} |
A number sign (#) is used with this entry because of evidence that hypotrichosis, or woolly hair with or without hypotrichosis, can be caused by homozygous or compound heterozygous mutation in the LIPH (607365) gene on chromosome 3q27.
For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (6... | HYPOTRICHOSIS 7 | c1854310 | 3,422 | omim | https://www.omim.org/entry/604379 | 2019-09-22T16:12:00 | {"doid": ["0110704"], "mesh": ["C537160"], "omim": ["604379"], "orphanet": ["55654", "170"], "synonyms": ["Alternative titles", "HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2", "HYPOTRICHOSIS, AUTOSOMAL RECESSIVE", "HYPOTRICHOSIS, TOTAL, MARI TYPE"]} |
Distal intestinal obstruction syndrome
Small intestine(at center)
Distal intestinal obstruction syndrome (DIOS) involves obstruction of the distal part of the small intestines by thickened intestinal content and occurs in about 20% of mainly adult individuals with cystic fibrosis.[1] DIOS was previously known ... | Distal intestinal obstruction syndrome | c0398349 | 3,423 | wikipedia | https://en.wikipedia.org/wiki/Distal_intestinal_obstruction_syndrome | 2021-01-18T18:28:54 | {"umls": ["C0398349"], "wikidata": ["Q5282842"]} |
A number sign (#) is used with this entry because of evidence that aggressive periodontitis-1 is caused by homozygous mutation in the CTSC gene (602365) on chromosome 11q14.
Description
Aggressive periodontitis, which may be generalized or localized, is characterized by severe and protracted gingival infections, le... | PERIODONTITIS, AGGRESSIVE, 1 | c0031106 | 3,424 | omim | https://www.omim.org/entry/170650 | 2019-09-22T16:36:20 | {"doid": ["1474"], "mesh": ["D010520"], "omim": ["170650"], "icd-10": ["K05.2"], "synonyms": ["Alternative titles", "PERIODONTITIS, JUVENILE", "PERIODONTITIS, PREPUBERTAL"]} |
A number sign (#) is used with this entry because of evidence that lissencephaly-8 (LIS8) is caused by homozygous or compound heterozygous mutation in the TMTC3 gene (617218) on chromosome 12q21.
Description
Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor developme... | LISSENCEPHALY 8 | c4310646 | 3,425 | omim | https://www.omim.org/entry/617255 | 2019-09-22T15:46:20 | {"omim": ["617255"]} |
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or fu... | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | None | 3,426 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=226307 | 2021-01-23T17:12:35 | {"icd-10": ["E03.1"]} |
Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligosper... | Non-syndromic male infertility due to sperm motility disorder | c1847540 | 3,427 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276234 | 2021-01-23T17:40:16 | {"mesh": ["C564665"], "omim": ["606766", "612997", "614822", "617576", "617592", "617593", "617965", "618152", "618153", "618429", "618433", "618643", "618664", "618670", "618745", "618751"], "icd-10": ["N46"], "synonyms": ["Non-syndromic male infertility due asthenozoospermia"]} |
Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.
## Epidemiology
Prevalence is un... | Hughes-Stovin syndrome | None | 3,428 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228116 | 2021-01-23T17:26:54 | {"icd-10": ["I28.8"]} |
A number sign (#) is used with this entry because of evidence that the form of recessive achromatopsia present in high incidence among Pingelapese islanders, here designated achromatopsia-3 (ACHM3), is caused by homozygous or compound heterozygous mutation in the CNGB3 gene (605080), which encodes the beta subunit of... | ACHROMATOPSIA 3 | c0152200 | 3,429 | omim | https://www.omim.org/entry/262300 | 2019-09-22T16:23:28 | {"doid": ["0110008"], "mesh": ["D003117"], "omim": ["262300"], "orphanet": ["49382"], "synonyms": ["Alternative titles", "PINGELAPESE BLINDNESS", "TOTAL COLORBLINDNESS WITH MYOPIA", "ACHROMATOPSIA WITH MYOPIA", "ACHM1, FORMERLY", "ROD MONOCHROMATISM 1, FORMERLY", "ROD MONOCHROMACY 1, FORMERLY"], "genereviews": ["NBK141... |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-49 (DFNB49) is caused by homozygous mutation in the gene encoding tricellulin (MARVELD2; 610572) on chromosome 5q13.
Mapping
Ramzan et al. (2005) reported 2 large consanguineous Pakistani families (PKDF041 and PKDF141) w... | DEAFNESS, AUTOSOMAL RECESSIVE 49 | c1857811 | 3,430 | omim | https://www.omim.org/entry/610153 | 2019-09-22T16:05:01 | {"doid": ["0110506"], "mesh": ["C565717"], "omim": ["610153"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"], "genereviews": ["NBK14... |
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N.
## Epidemiology
The subtypes of type 2 VW... | Von Willebrand disease type 2 | c1264040 | 3,431 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166081 | 2021-01-23T19:12:47 | {"mesh": ["D056728"], "omim": ["613554"], "umls": ["C1264040"], "icd-10": ["D68.0"]} |
A number sign (#) is used with this entry because of evidence that metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene (600211) on chromosome 6p21.
Heterozygous loss-of-function mutation in the RU... | METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY | c3549874 | 3,432 | omim | https://www.omim.org/entry/156510 | 2019-09-22T16:38:15 | {"omim": ["156510"], "orphanet": ["2504"], "synonyms": []} |
For a phenotypic description and a discussion of episodic ataxia, see EA1 (160120).
Clinical Features
Kerber et al. (2007) reported a 4-generation family in which 7 members had episodic ataxia. Inheritance was autosomal dominant. Onset occurred before age 20 years, and attacks lasted hours to days and were associat... | EPISODIC ATAXIA, TYPE 7 | c2677843 | 3,433 | omim | https://www.omim.org/entry/611907 | 2019-09-22T16:02:38 | {"doid": ["0050995"], "mesh": ["C567459"], "omim": ["611907"], "orphanet": ["209970"]} |
A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involv... | Alpha-B crystallin-related late-onset myopathy | c1837317 | 3,434 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=399058 | 2021-01-23T18:19:20 | {"mesh": ["C563848"], "omim": ["608810"], "icd-10": ["G71.0"], "synonyms": ["Alpha-B crystallin-related late-onset distal myopathy", "Late-onset distal crystallinopathy"]} |
Personality disorder characterized by procrastination, covert obstructionism, inefficiency and stubbornness
Passive–aggressive personality disorder
SpecialtyPsychiatry, clinical psychology
Personality disorders
Cluster A (odd)
* Paranoid
* Schizoid
* Schizotypal
Cluster B (dramatic)
* Ant... | Passive–aggressive personality disorder | c0030631 | 3,435 | wikipedia | https://en.wikipedia.org/wiki/Passive%E2%80%93aggressive_personality_disorder | 2021-01-18T18:39:01 | {"mesh": ["D010324"], "icd-10": ["F60.8"], "wikidata": ["Q28823477"]} |
A number sign (#) is used with this entry because the disorder is caused by mutation in the mitochondrial complex I, subunit ND6 gene (MTND6; 516006), the complex I, subunit ND4 gene (MTND4; 516003), the complex I, subunit ND1 gene (MTND1; 516000), and the MTND3 gene (516002).
Clinical Features
Marsden et al. (... | LEBER OPTIC ATROPHY AND DYSTONIA | c1839040 | 3,436 | omim | https://www.omim.org/entry/500001 | 2019-09-22T16:16:57 | {"mesh": ["C536024"], "omim": ["500001"], "orphanet": ["99718"], "synonyms": ["LHON plus disease", "Alternative titles", "MARSDEN SYNDROME", "DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES", "LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA"]} |
Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include... | Tetrasomy X | c0265496 | 3,437 | gard | https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x | 2021-01-18T17:57:23 | {"mesh": ["C536502"], "umls": ["C0265496"], "orphanet": ["9"], "synonyms": ["48 XXXX", "48 XXXX syndrome", "Tetra X", "48,XXXX syndrome", "Quadruple X"]} |
For other uses, see Infantilism (disambiguation).
Look up infantilism or infantile in Wiktionary, the free dictionary.
In medicine, Infantilism is an obsolete term for various, often unrelated disorders of human development, up to developmental disability, which consist of retention of the physical and/or psych... | Infantilism (physiological disorder) | None | 3,438 | wikipedia | https://en.wikipedia.org/wiki/Infantilism_(physiological_disorder) | 2021-01-18T18:56:49 | {"wikidata": ["Q1662323"]} |
Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix (see this term), seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (with... | Classic neuroendocrine tumor of appendix | None | 3,439 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329977 | 2021-01-23T17:39:45 | {"icd-10": ["D37.3"], "synonyms": ["Classic appendiceal neuroendocrine tumor", "Classic appendix neuroendocrine tumor"]} |
A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.
*[v]: View this tem... | Cystathioninuria | c0220993 | 3,440 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=212 | 2021-01-23T19:03:54 | {"gard": ["2428"], "mesh": ["C535408"], "omim": ["219500"], "umls": ["C0220993", "C0268616"], "icd-10": ["E72.1"], "synonyms": ["Cystathionase deficiency", "Cystathionine gamma-lyase deficiency syndrome", "Gamma-cystathionase deficiency"]} |
A rare, congenital, non-syndromic heart malformation characterized by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography.
*[v]: View this template
*[t]: Discu... | Abnormal number of coronary ostia | None | 3,441 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99089 | 2021-01-23T19:00:00 | {"icd-10": ["Q24.5"]} |
A number sign (#) is used with this entry because thyroid dyshormonogenesis-2A (TDH2A) is caused by homozygous or compound heterozygous mutation in the thyroid peroxidase gene (TPO; 606765) on chromosome 2p25.
For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis... | THYROID DYSHORMONOGENESIS 2A | c1848805 | 3,442 | omim | https://www.omim.org/entry/274500 | 2019-09-22T16:21:41 | {"mesh": ["C564766"], "omim": ["274400", "274500"], "orphanet": ["95716"], "synonyms": ["Alternative titles", "HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A", "Thyroid dyshormonogenesis", "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A", "THYROID PEROXIDASE DEFICIENCY", "IODIDE PEROXIDASE DEFICIENCY"]} |
Cryofibrinogenemia
SpecialtyPathology
Cryofibrinogenemia refers to a condition classified as a fibrinogen disorder in which the chilling of an individual's blood plasma from the normal body temperature of 37 °C to the near-freezing temperature of 4 °C causes the reversible precipitation of a complex containing... | Cryofibrinogenemia | c0272263 | 3,443 | wikipedia | https://en.wikipedia.org/wiki/Cryofibrinogenemia | 2021-01-18T19:01:01 | {"gard": ["9908"], "mesh": ["C536218"], "umls": ["C0272263"], "wikidata": ["Q5190514"]} |
## Summary
### Clinical characteristics.
Lateral meningocele syndrome (LMS) is characterized by multiple lateral spinal meningoceles (protrusions of the arachnoid and dura through spinal foramina), distinctive facial features, joint hyperextensibility, hypotonia, and skeletal, cardiac, and urogenital anomalies.... | Lateral Meningocele Syndrome | c1851710 | 3,444 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK368476/ | 2021-01-18T21:15:23 | {"mesh": ["C537878"], "synonyms": ["Lehman Syndrome"]} |
Congenital stromal corneal dystrophy
Other namesWitschel dystrophy
The cornea is particularly opaque in the anterior stroma by slit-lamp biomicroscopy
Congenital stromal dystrophy. Transmission electron microscopy of the corneal stroma showing normal collagen lamellae separated by abnormal randomly distribut... | Congenital stromal corneal dystrophy | c1864738 | 3,445 | wikipedia | https://en.wikipedia.org/wiki/Congenital_stromal_corneal_dystrophy | 2021-01-18T18:39:02 | {"mesh": ["C566452"], "umls": ["C1864738"], "orphanet": ["101068"], "wikidata": ["Q4127187"]} |
A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
## Epidemiology
Ataxia-oculomotor apraxia type 1 (AOA1) represents 3.6% of all autosomal recessive cerebellar ataxia (ARCA) in Portugal; in Jap... | Ataxia-oculomotor apraxia type 1 | c1859598 | 3,446 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1168 | 2021-01-23T17:25:50 | {"gard": ["9283"], "mesh": ["C538013"], "omim": ["208920"], "umls": ["C1859598"], "icd-10": ["G11.3"], "synonyms": ["AOA1"]} |
A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.
## Epidemiology
This extremely rare syndrome affects mainly young adults or infants and has been reported in nearly... | Familial short QT syndrome | c1865020 | 3,447 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=51083 | 2021-01-23T18:42:19 | {"mesh": ["C566506"], "omim": ["609620", "609621", "609622"], "icd-10": ["I49.8"], "synonyms": ["SQTS"]} |
A rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.
## Epidemiology
The prevalence is unknown.
## Clinical description
The severity of the disorder varies greatly among affected individuals. Aplasia cutis congenita, ... | Adams-Oliver syndrome | c0265268 | 3,448 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=974 | 2021-01-23T18:26:35 | {"gard": ["5739"], "mesh": ["C538225"], "omim": ["100300", "614219", "614814", "615297", "616028", "616589"], "umls": ["C0265268"], "icd-10": ["Q87.2"], "synonyms": ["AOS", "Congenital scalp defects with distal limb anomalies", "Congenital scalp defects with distal limb reduction anomalies", "Limb, scalp and skull defe... |
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis (see this term) including pulmonary or pancreat... | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | c2939175 | 3,449 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314376 | 2021-01-23T17:52:07 | {"mesh": ["D000074270"], "omim": ["614665"], "icd-10": ["P76.0"], "synonyms": ["Meconium ileus due to guanylate cyclase 2C deficiency"]} |
Nishimura et al. (1999) described a Japanese family in which 4 females and 2 males in 3 generations had a brittle bone disorder that appeared to be hitherto unreported. The cardinal manifestations included dolichocephaly with frontal bossing, hypoplasia of the midface, postpubertal prognathism, micromelic short statu... | BRITTLE BONE DISORDER | c1859069 | 3,450 | omim | https://www.omim.org/entry/603828 | 2019-09-22T16:12:35 | {"mesh": ["C565842"], "omim": ["603828"]} |
A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth... | Hereditary sensory neuropathy-deafness-dementia syndrome | c3279885 | 3,451 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=456318 | 2021-01-23T17:48:57 | {"gard": ["11927"], "mesh": ["C580162"], "omim": ["614116"], "icd-10": ["G60.8"], "synonyms": ["HSAN1E", "HSN1E", "Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome"]} |
Kindling (sedative–hypnotic withdrawal)
SpecialtyNeurology, psychiatry
Kindling due to substance withdrawal refers to the neurological condition which results from repeated withdrawal episodes from sedative–hypnotic drugs such as alcohol and benzodiazepines.
Each withdrawal leads to more severe withdrawal sym... | Kindling (sedative–hypnotic withdrawal) | None | 3,452 | wikipedia | https://en.wikipedia.org/wiki/Kindling_(sedative%E2%80%93hypnotic_withdrawal) | 2021-01-18T18:57:08 | {"wikidata": ["Q6410625"]} |
Morton's neuroma
Other namesMorton neuroma, Morton's metatarsalgia, Intermetatarsal neuroma, and Intermetatarsal space neuroma[1]
The plantar nerves.
SpecialtyNeurology
Morton's neuroma is a benign neuroma of an intermetatarsal plantar nerve, most commonly of the second and third intermetatarsal spaces... | Morton's neuroma | c0311337 | 3,453 | wikipedia | https://en.wikipedia.org/wiki/Morton%27s_neuroma | 2021-01-18T18:53:08 | {"mesh": ["D000070607"], "icd-9": ["355.6"], "icd-10": ["G57.6"], "wikidata": ["Q1948740"]} |
A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopa... | PGM1-CDG | c2752015 | 3,454 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319646 | 2021-01-23T18:37:10 | {"mesh": ["C567859"], "omim": ["614921"], "umls": ["C2752015"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type It", "CDG-It", "CDG1T", "Congenital disorder of glycosylation type 1t", "Congenital disorder of glycosylation type It", "PGM1-related congenital disorder of glycosylation", "Phosphoglucomutase-1 deficien... |
COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome i... | COG7-CDG | c2931010 | 3,455 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79333 | 2021-01-23T18:53:06 | {"gard": ["9842"], "mesh": ["C535754"], "omim": ["608779"], "umls": ["C2931010"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type IIe", "CDG-IIe", "CDG2E", "Carbohydrate deficient glycoprotein syndrome type IIe", "Congenital disorder of glycosylation type 2e", "Congenital disorder of glycosylation type IIe"]} |
Parkinson-plus syndromes
Other namesDisorders of multiple system degeneration
SpecialtyNeurology
Parkinson-plus syndromes (PPS) is a group of neurodegenerative[1] diseases featuring the classical features of Parkinson's disease (tremor, rigidity, akinesia/bradykinesia, and postural instability) with addition... | Parkinson plus syndrome | None | 3,456 | wikipedia | https://en.wikipedia.org/wiki/Parkinson_plus_syndrome | 2021-01-18T18:58:24 | {"wikidata": ["Q2915552"]} |
Yemenite deaf-blind hypopigmentation syndrome
Other namesWarburg-Thomsen syndrome[1]
Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10[2] (not SOX10).[3]
It was characterized in 1990,[4] after being seen in two siblings from Yemen who pres... | Yemenite deaf-blind hypopigmentation syndrome | c1866425 | 3,457 | wikipedia | https://en.wikipedia.org/wiki/Yemenite_deaf-blind_hypopigmentation_syndrome | 2021-01-18T18:38:57 | {"gard": ["5535"], "mesh": ["C536771"], "umls": ["C1866425"], "orphanet": ["3214"], "wikidata": ["Q8052144"]} |
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).
## Epidemiology
It has initially bee... | Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome | c1860471 | 3,458 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3201 | 2021-01-23T16:56:14 | {"gard": ["5472"], "mesh": ["C537497"], "omim": ["192445"], "umls": ["C1860471", "C2931232"], "icd-10": ["Q87.8"], "synonyms": ["Stoll-Kieny-Dott syndrome"]} |
A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen, among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and ... | Juvenile myelomonocytic leukemia | c0349639 | 3,459 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86834 | 2021-01-23T18:29:10 | {"gard": ["9884"], "mesh": ["D054429"], "omim": ["607785"], "umls": ["C0349639"], "icd-10": ["C93.3"], "synonyms": ["JMML", "Juvenile chronic myelomonocytic leukemia"]} |
A number sign (#) is used with this entry because of the evidence that the causative mutation resides in the COL2A1 gene (120140).
Clinical Features
Siggers et al. (1974) reported 8 patients with Kniest dysplasia. Two were identical twins; the other cases were sporadic. All of the patients had short stature, round ... | KNIEST DYSPLASIA | c0265279 | 3,460 | omim | https://www.omim.org/entry/156550 | 2019-09-22T16:38:15 | {"doid": ["0080045"], "mesh": ["C537207"], "omim": ["156550"], "orphanet": ["485"], "genereviews": ["NBK540447"]} |
A number sign (#) is used with this entry because homozygous mutation in the TYRP1 gene (115501) has been shown to account for variation in hair color linked to chromosome 9p23 in Melanesians.
For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentat... | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11 | c2677086 | 3,461 | omim | https://www.omim.org/entry/612271 | 2019-09-22T16:01:59 | {"mesh": ["C567374"], "omim": ["612271"], "synonyms": ["Alternative titles", "MELANESIAN BLOND HAIR", "SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES"]} |
A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, mo... | Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | c3809592 | 3,462 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369897 | 2021-01-23T17:20:58 | {"omim": ["615471"], "icd-10": ["E88.8"], "synonyms": ["mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"]} |
Timothy syndrome is a disorder that affects the heart, digits (toes and fingers), and nervous system (brain and nerves). It is a type of long QT syndrome. Long QT syndrome refers to a prolonged QT interval measurement seen on the electrocardiogram. Symptoms of Timothy syndrome include fusion of the skin between finge... | Timothy syndrome | c1832916 | 3,463 | gard | https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome | 2021-01-18T17:57:21 | {"mesh": ["C536962"], "omim": ["601005"], "umls": ["C1832916"], "orphanet": ["65283"], "synonyms": ["Long QT syndrome 8", "LQT8", "Long QT syndrome with syndactyly"]} |
Sappinia amoebic encephalitis
SpecialtyInfectious disease
Sappinia amoebic encephalitis (SAE) is the name for amoebic encephalitis caused by species of Sappinia.[1]
The causative organism was originally identified as Sappinia diploidea,[2][3] but is now considered to be Sappinia pedata.[4]
It has been treate... | Sappinia amoebic encephalitis | None | 3,464 | wikipedia | https://en.wikipedia.org/wiki/Sappinia_amoebic_encephalitis | 2021-01-18T18:50:41 | {"wikidata": ["Q7421081"]} |
Postoperative hematomas are a cutaneous condition characterized by a collection of blood below the skin, and result as a complication following surgery.[1]
## See also[edit]
* Subungual hematoma
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph... | Postoperative hematoma | c0338380 | 3,465 | wikipedia | https://en.wikipedia.org/wiki/Postoperative_hematoma | 2021-01-18T19:10:12 | {"wikidata": ["Q7234429"]} |
Early-1900s term for proportional dwarfism
Ateliosis or ateleiosis is a diagnosis used in the early 1900s to describe patients with short stature. Ateliosis literally means "failure to achieve perfection", and was used to describe proportional dwarfism.[1] The term was popularised by Hastings Gilford, who used t... | Ateliosis | None | 3,466 | wikipedia | https://en.wikipedia.org/wiki/Ateliosis | 2021-01-18T18:46:48 | {"wikidata": ["Q4813037"]} |
Endocardial Fibroelastosis
Other namesEFE
SpecialtyCardiology
Endocardial fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old and younger.[1] It may also be considered a reaction to stress, not necessarily a specific disease.[2]
It should not be confused with endomy... | Endocardial fibroelastosis | c0014117 | 3,467 | wikipedia | https://en.wikipedia.org/wiki/Endocardial_fibroelastosis | 2021-01-18T19:10:51 | {"gard": ["2121", "6336"], "mesh": ["D004695"], "umls": ["C0014117"], "orphanet": ["2022"], "wikidata": ["Q5376225"]} |
A number sign (#) is used with this entry because of evidence that progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO)-like syndrome (PEHOL) is caused by homozygous mutation in the CCDC88A gene (609736) on chromosome 2p16. One such family has been reported.
Clinical Features
Nahorski... | PEHO-LIKE SYNDROME | c1850056 | 3,468 | omim | https://www.omim.org/entry/617507 | 2019-09-22T15:45:44 | {"mesh": ["C536317"], "omim": ["617507"], "orphanet": ["99807"], "synonyms": ["Alternative titles", "PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME"]} |
Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the ... | Kimura disease | c0033838 | 3,469 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=482 | 2021-01-23T18:46:59 | {"gard": ["6835"], "mesh": ["D000796"], "umls": ["C0033838"], "icd-10": ["I89.8"], "synonyms": ["Eosinophilic lymphogranuloma"]} |
Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Symptoms of MD usually appear within the first few months of life and include sparse, kinky hai... | Menkes disease | c0022716 | 3,470 | gard | https://rarediseases.info.nih.gov/diseases/1521/menkes-disease | 2021-01-18T17:59:10 | {"mesh": ["D007706"], "omim": ["309400"], "umls": ["C0022716"], "orphanet": ["565"], "synonyms": ["Menkes syndrome", "Steely hair disease", "Menkea syndrome", "Kinky hair disease", "Copper transport disease"]} |
Medical condition of the prostate gland
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: "P... | Prostatic congestion | c0268890 | 3,471 | wikipedia | https://en.wikipedia.org/wiki/Prostatic_congestion | 2021-01-18T18:30:58 | {"umls": ["C0268890"], "wikidata": ["Q16969121"]} |
Adie's syndrome
Other namesHolmes–Adie syndrome, Adie's tonic pupil, Holmes–Adie pupil
Bilateral mydriasis given the observational diagnosis Adie's pupils by an ophthalmologist
Pronunciation
* /ˈeɪdi/
SpecialtyOphthalmology
Adie syndrome, also known as Holmes-Adie syndrome, is a neurological ... | Adie syndrome | c0001519 | 3,472 | wikipedia | https://en.wikipedia.org/wiki/Adie_syndrome | 2021-01-18T18:52:50 | {"gard": ["5749"], "mesh": ["D000270"], "umls": ["C0001519"], "orphanet": ["454718"], "wikidata": ["Q357067"]} |
Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching.[2310] There are four main types of EB, which are classified based on the depth, or level, ... | Epidermolysis bullosa | c0014527 | 3,473 | gard | https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa | 2021-01-18T18:00:41 | {"mesh": ["D004820"], "umls": ["C0014527"], "synonyms": ["EB"]} |
A number sign (#) is used with this entry because of evidence that Okur-Chung neurodevelopmental syndrome (OCNDS) is caused by heterozygous mutation in the CSNK2A1 gene (115440) on chromosome 20p13.
Description
Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychom... | OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME | c4310739 | 3,474 | omim | https://www.omim.org/entry/617062 | 2019-09-22T15:47:11 | {"omim": ["617062"]} |
A number sign (#) is used with this entry because of evidence that hereditary sensory and autonomic neuropathy type VIII (HSAN8) is caused by homozygous mutation in the PRDM12 gene (616458) on chromosome 9q34.
Description
Hereditary sensory and autonomic neuropathy type VIII is an autosomal recessive neurologic dis... | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII | c4225308 | 3,475 | omim | https://www.omim.org/entry/616488 | 2019-09-22T15:48:41 | {"doid": ["0070153"], "omim": ["616488"], "orphanet": ["478664"], "synonyms": ["HSAN8", "Alternative titles", "Hereditary sensory and autonomic neuropathy type VIII", "HSAN VIII"], "genereviews": ["NBK481553"]} |
A number sign (#) is used with this entry because of evidence that primary failure of tooth eruption (PFE) is caused by heterozygous mutation in the PTHR1 gene (168468) on chromosome 3p21.
See also 157950 and 273050 for phenotypes with shared features of PFE.
Clinical Features
Shokeir (1974) described autosomal do... | FAILURE OF TOOTH ERUPTION, PRIMARY | c1852222 | 3,476 | omim | https://www.omim.org/entry/125350 | 2019-09-22T16:42:28 | {"doid": ["0111341"], "mesh": ["C565114"], "omim": ["125350"], "orphanet": ["412206"], "synonyms": ["Alternative titles", "PRIMARY FAILURE OF ERUPTION, NONSYNDROMIC", "PRIMARY RETENTION OF TEETH", "UNERUPTED SECOND PRIMARY MOLAR", "POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL", "DENTAL NONERUPTION"]} |
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections th... | Primary ciliary dyskinesia | c0022521 | 3,477 | medlineplus | https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia/ | 2021-01-27T08:25:14 | {"gard": ["6815", "4484"], "mesh": ["D007619"], "omim": ["244400", "612518", "612649", "612650", "613193", "613807", "613808", "606763", "608644", "608646", "608647", "610852", "611884", "612274", "612444"], "synonyms": []} |
Arteriovenous malformations or AVMs are rare vascular malformations (abnormal tangles of blood vessels where direct connections form between arteries and veins) which disrupt natural blood flow. AVMs most commonly affect the central nervous system (brain and spinal cord) but can involve any organ. Those affecting the... | Extracranial arteriovenous malformation | None | 3,478 | gard | https://rarediseases.info.nih.gov/diseases/12047/extracranial-arteriovenous-malformation | 2021-01-18T18:00:38 | {"synonyms": ["Extracranial AVM", "Head and neck arteriovenous malformation", "Head and neck AVM"]} |
Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reporte... | Combined oxidative phosphorylation defect type 14 | c3554168 | 3,479 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319519 | 2021-01-23T17:16:47 | {"omim": ["614946"], "icd-10": ["E88.8"], "synonyms": ["COXPD14"]} |
A number sign (#) is used with this entry because of evidence that juvenile-onset cataract-46 (CRCT46) is caused by homozygous mutation in the LEMD2 gene (616312) on chromosome 6p21.
Clinical Features
Shokeir and Lowry (1985) found 9 cases in 4 sibships of an inbred Lehrerleut Hutterite group. Apart from the catara... | CATARACT 46, JUVENILE-ONSET | c0220721 | 3,480 | omim | https://www.omim.org/entry/212500 | 2019-09-22T16:30:03 | {"doid": ["0110243"], "omim": ["212500"], "icd-10": ["Q12.0"], "orphanet": ["91492"], "synonyms": ["Alternative titles", "CATARACT, JUVENILE, HUTTERITE TYPE"]} |
## Summary
### Clinical characteristics.
Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 106 sperm/mL semen), moderate oligozoospermia (1-5 x 106 sperm/mL semen), or mild oligozoospermia (5-20 x 106 sperm/mL semen). Males with Y chromosome infertility usuall... | Y Chromosome Infertility | c3711648 | 3,481 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1339/ | 2021-01-18T20:48:00 | {"mesh": ["C580551"], "synonyms": ["Y Chromosome-Related Azoospermia"]} |
Of the 7 children of parents related as half first cousins, 1 boy died during a convulsion at age 2 months and the other 6, born between 1925 and 1935, had severe mental retardation and extensive calcification of the choroid plexus (Lott et al., 1979). Strabismus, hyperactive deep tendon reflexes, Babinski sign, and ... | CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION | c1859092 | 3,482 | omim | https://www.omim.org/entry/215480 | 2019-09-22T16:29:42 | {"mesh": ["C535357"], "omim": ["215480"], "orphanet": ["1313"]} |
ACTG2-related disorders are a subset of visceral myopathy (a condition where the intestine is unable to push food through but where there is not a real intestinal obstruction) with variable involvement of the bladder and intestine. Bladder involvement can range from neonatal megacystis (a bladder with increased size)... | ACTG2-related disorders | None | 3,483 | gard | https://rarediseases.info.nih.gov/diseases/12743/actg2-related-disorders | 2021-01-18T18:02:19 | {"synonyms": []} |
Keratoacanthoma
Keratoacanthoma
SpecialtyDermatology, plastic surgery
Types
* Giant keratoacanthomas
* Subungual keratoacanthoma
* Multiple keratoacanthomas (Ferguson–Smith syndrome)
* Keratoacanthoma centrifugum marginatum
* Generalized eruptive keratoacanthoma of Grzybowski
Risk factorsUltravio... | Keratoacanthoma | c0022572 | 3,484 | wikipedia | https://en.wikipedia.org/wiki/Keratoacanthoma | 2021-01-18T19:01:29 | {"mesh": ["D007636"], "umls": ["C0022572"], "icd-9": ["238.2"], "icd-10": ["D23"], "wikidata": ["Q785827"]} |
Francois (1958) described a brother and sister, aged 50 and 35, respectively, with what he considered to be a 'new' type of hereditary corneal dystrophy. He referred to it as 'dystrophie corneenne nuageuse centrale.'
Eyes \- Central corneal dystrophy Inheritance \- Autosomal recessive ▲ Close
*[v]: View th... | CENTRAL CLOUDY DYSTROPHY OF FRANCOIS | c1622427 | 3,485 | omim | https://www.omim.org/entry/217600 | 2019-09-22T16:29:29 | {"mesh": ["C563262"], "omim": ["217600"], "orphanet": ["98972"], "synonyms": ["Alternative titles", "CORNEAL DYSTROPHY, CENTRAL TYPE"]} |
Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual a... | Autosomal recessive spastic paraplegia type 14 | c1854568 | 3,486 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100995 | 2021-01-23T17:02:02 | {"gard": ["9589"], "mesh": ["C537486"], "omim": ["605229"], "umls": ["C1854568"], "icd-10": ["G11.4"], "synonyms": ["SPG14"]} |
A number sign (#) is used with this entry because of evidence that spinocerebellar ataxia-48 (SCA48) is caused by heterozygous mutation in the STUB1 gene (607207) on chromosome 16p13. One such family has been reported.
Description
SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of g... | SPINOCEREBELLAR ATAXIA 48 | None | 3,487 | omim | https://www.omim.org/entry/618093 | 2019-09-22T15:43:39 | {"omim": ["618093"]} |
Hemangiopericytoma
Other namesHPC
Haemangiopericytoma, Gomori methenamine silver stain
SpecialtyOncology, rheumatology
SymptomsPainless mass[1]
Usual onset45 years of age (median)[1]
A hemangiopericytoma is a type of soft-tissue sarcoma that originates in the pericytes in the walls of capillaries. When... | Hemangiopericytoma | c0018922 | 3,488 | wikipedia | https://en.wikipedia.org/wiki/Hemangiopericytoma | 2021-01-18T18:50:53 | {"gard": ["2627"], "mesh": ["D006393"], "umls": ["C0018922"], "icd-10": ["C49"], "wikidata": ["Q3144913"]} |
A number sign (#) is used with this entry because tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to dihydropteridine reductase deficiency (HPABH4C) is caused by homozygous or compound heterozygous mutation in the QDPR gene (612676), which encodes an enzyme involved in the salvage pathway for ... | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C | c0751436 | 3,489 | omim | https://www.omim.org/entry/261630 | 2019-09-22T16:23:32 | {"mesh": ["D010661"], "omim": ["261630"], "orphanet": ["238583", "226"], "synonyms": ["Alternative titles", "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY", "DIHYDROPTERIDINE REDUCTASE DEFICIENCY", "DHPR DEFICIENCY", "QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY", "QDPR DEFICIENCY"]} |
STAC3 Disorder is a genetic condition that affects the muscles and skeleton. The main features are muscle weakness present at birth, club foot, fixed joints (joint contractures), and curvature of the spine. The symptoms of this condition vary. The most severe complications can include feeding and breathing difficulti... | STAC3 Disorder | c1850625 | 3,490 | gard | https://rarediseases.info.nih.gov/diseases/8432/stac3-disorder | 2021-01-18T17:57:31 | {"mesh": ["C538343"], "omim": ["255995"], "umls": ["C1850625"], "orphanet": ["168572"], "synonyms": ["Congenital myopathy cleft palate and malignant hyperthermia", "Congenital myopathy - cleft palate - malignant hyperthermia", "Congenital myopathy-cleft palate-malignant hyperthermia syndrome", "Congenital myopathy with... |
A rare otorhinolaryngologic malformation characterized by delayed speech development and hypernasal speech in the absence of overt cleft palate. Radiological examination shows a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures. The condition may be an isolated finding or o... | Congenital velopharyngeal incompetence | c1997202 | 3,491 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2291 | 2021-01-23T16:58:59 | {"gard": ["5470"], "omim": ["167500"], "umls": ["C1997202"], "icd-10": ["J39.2"]} |
A number sign (#) is used with this entry because of evidence that anauxetic dysplasia-1 (ANXD1) is caused by homozygous or compound heterozygous mutation in the RMRP gene (157660) on chromosome 9p13.
Description
Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset o... | ANAUXETIC DYSPLASIA 1 | c1846796 | 3,492 | omim | https://www.omim.org/entry/607095 | 2019-09-22T16:09:39 | {"doid": ["0050640"], "mesh": ["C538256"], "omim": ["607095"], "orphanet": ["93347"], "synonyms": ["Alternative titles", "ANAUXETIC DYSPLASIA", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE", "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, MENGER TYPE"], "genereviews": ["NBK84... |
Mycoplasma pneumonia
Other namesWalking pneumonia
SpecialtyInfectious disease, pulmonology
Mycoplasma pneumonia (also known as "walking pneumonia") is a form of bacterial pneumonia caused by the bacterial species Mycoplasma pneumoniae.It is also known as PPLO, which is an acronym for Pleuro Pneumonia Like Or... | Mycoplasma pneumonia | c0032302 | 3,493 | wikipedia | https://en.wikipedia.org/wiki/Mycoplasma_pneumonia | 2021-01-18T18:32:20 | {"gard": ["7125"], "mesh": ["D011019"], "icd-9": ["483.0"], "icd-10": ["B96.0"], "wikidata": ["Q10591185"]} |
Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal d... | Criss-cross heart | c0010334 | 3,494 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1461 | 2021-01-23T17:12:59 | {"mesh": ["D003420"], "umls": ["C0010334"], "icd-10": ["Q24.8"], "synonyms": ["Criss-cross atrioventricular relationships", "Superoinferior ventricles", "Twisted atrioventricular connections"]} |
A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.
## Epidemiology
Phosphoribosylpyrop... | Phosphoribosylpyrophosphate synthetase superactivity | c1970827 | 3,495 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3222 | 2021-01-23T17:10:10 | {"mesh": ["C567064"], "omim": ["300661"], "umls": ["C1970827"], "icd-10": ["E79.8"], "synonyms": ["PRPP synthetase superactivity", "PRPS1 superactivity"]} |
A disorder that caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.
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... | Argentine hemorrhagic fever | c0019097 | 3,496 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319223 | 2021-01-23T18:22:49 | {"mesh": ["D006478"], "umls": ["C0019097"], "icd-10": ["A96.0"], "synonyms": ["Argentinian hemorrhagic fever", "Junin hemorrhagic fever"]} |
Mead and Martin (1963) described a black family in which a mother and 4 children had aplasia of the trochlea of the humerus (the part that articulates with the ulna). Three of the children were by one father and one by another. The deformity was bilaterally symmetrical. The patient held the elbows in flexion and the ... | TROCHLEA OF THE HUMERUS, APLASIA OF | c1860773 | 3,497 | omim | https://www.omim.org/entry/191000 | 2019-09-22T16:32:15 | {"mesh": ["C566022"], "omim": ["191000"], "orphanet": ["3383"]} |
Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothromb... | Sitosterolemia | c0342907 | 3,498 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2882 | 2021-01-23T17:08:39 | {"gard": ["7653"], "mesh": ["C537345"], "omim": ["210250", "618666"], "umls": ["C0342907"], "icd-10": ["E78.0"], "synonyms": ["Phytosterolemia"]} |
A number sign (#) is used with this entry because familial dysalbuminemic hyperthyroxinemia (FDAH) is caused by heterozygous mutation in the ALB gene (103600) on chromosome 4q13.
Description
Familial dysalbuminemic hyperthyroxinemia is an autosomal dominant condition characterized by the presence of a variant serum... | HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC | c0342185 | 3,499 | omim | https://www.omim.org/entry/615999 | 2019-09-22T15:50:15 | {"mesh": ["D050010"], "omim": ["615999"], "synonyms": ["Alternative titles", "FDH", "EUTHYROID HYPERTHYROXINEMIA 1"]} |
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