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## Description
Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae ('holes'). Flexion spasms in the infant represent the usual mode of clinical presentation (Aicardi, 1999).
Clinical Features
Aicardi et al. (1969) reported 15 cases, all in females.
D... | AICARDI SYNDROME | c0175713 | 100 | omim | https://www.omim.org/entry/304050 | 2019-09-22T16:18:29 | {"doid": ["8461"], "mesh": ["D058540"], "omim": ["304050"], "orphanet": ["50"], "synonyms": ["Alternative titles", "CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY"], "genereviews": ["NBK1381"]} |
Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6-related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized... | Boucher-Neuhäuser syndrome | c1859093 | 101 | medlineplus | https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome/ | 2021-01-27T08:25:18 | {"gard": ["944"], "mesh": ["C565850"], "omim": ["215470"], "synonyms": []} |
Ayazi syndrome
Other namesChoroideremia-deafness-obesity syndrome
This condition is inherited in an X-linked recessive manner
Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome)[1] is a syndrome characterized by choroideremia, congenital deafness and obesity.
## Contents
* 1 Signs and symptoms
* 2... | Ayazi syndrome | c3551019 | 102 | wikipedia | https://en.wikipedia.org/wiki/Ayazi_syndrome | 2021-01-18T18:38:23 | {"gard": ["369"], "mesh": ["C537793"], "umls": ["C1844836", "C3551019"], "orphanet": ["1435"], "wikidata": ["Q4831022"]} |
Cold autoimmune hemolytic anemia
SpecialtyHematology
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 remo... | Cold autoimmune hemolytic anemia | c0175816 | 103 | wikipedia | https://en.wikipedia.org/wiki/Cold_autoimmune_hemolytic_anemia | 2021-01-18T18:51:21 | {"mesh": ["D000744"], "umls": ["C0175816"], "orphanet": ["228312"], "wikidata": ["Q9615018"]} |
A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability, short stature, cleft palate, and facial dysmorphism (including e... | Multiple benign circumferential skin creases on limbs | c0473586 | 104 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2505 | 2021-01-23T18:39:47 | {"gard": ["3589"], "mesh": ["C537575"], "omim": ["156610", "616734"], "umls": ["C0473586"], "icd-10": ["Q82.8"], "synonyms": ["CCSF", "Circumferential skin creases, Kunze type", "Congenital circumferential skin folds", "Kunze-Riehm syndrome"]} |
Adult blaschkitis
SpecialtyDermatology
Adult blaschkitis is a rare inflammatory skin condition presenting as pruritic papules and vesicles along multiple lines of Blaschko.[1][2]
## See also[edit]
* Lichen striatus
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, J... | Adult blaschkitis | None | 105 | wikipedia | https://en.wikipedia.org/wiki/Adult_blaschkitis | 2021-01-18T18:28:15 | {"wikidata": ["Q4685917"]} |
## Description
Camptodactyly is defined as a permanent flexion contrature of 1 or both fifth fingers at the proximal interphalangeal joints. Additional fingers might be affected, but the little finger is always involved. Usually the condition appears to be sporadic in a family, but clinical examination of relat... | CAMPTODACTYLY 1 | c1306668 | 106 | omim | https://www.omim.org/entry/114200 | 2019-09-22T16:43:51 | {"omim": ["114200"], "orphanet": ["295016"], "synonyms": ["Alternative titles", "CAMPTODACTYLY AND KNUCKLE PADS"]} |
Ureteritis
SpecialtyUrology
Ureteritis is a medical condition of the ureter that involves inflammation.[1][2] One form is known as "ureteritis cystica".[3]
Eosinophilic ureteritis has been observed.[4]
Ureteritis is often considered part of a urinary tract infection.
## References[edit]
1. ^ "Ureteritis"... | Ureteritis | c0041959 | 107 | wikipedia | https://en.wikipedia.org/wiki/Ureteritis | 2021-01-18T18:57:10 | {"umls": ["C0041959"], "icd-10": ["N28.8"], "wikidata": ["Q4115541"]} |
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhyth... | Familial atrial fibrillation | c1843687 | 108 | medlineplus | https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation/ | 2021-01-27T08:25:32 | {"gard": ["9740"], "mesh": ["C538261"], "omim": ["608583", "614022", "614049", "614050", "615377", "615378", "615770", "617280", "608988", "607554", "611493", "611494", "612201", "612240", "613055", "613980"], "synonyms": []} |
DeWan et al. (2001) reported suggestive, but not statistically significant, results of a genomewide quantitative linkage analysis for creatinine clearance (CRCL), a common measure of renal function. The strongest signals were in regions on chromosomes 1, 3, and 6 in whites and in 2 regions on chromosome 3 in African ... | CREATININE CLEARANCE QUANTITATIVE TRAIT LOCUS | c1846718 | 109 | omim | https://www.omim.org/entry/607135 | 2019-09-22T16:09:35 | {"omim": ["607135"], "synonyms": ["Alternative titles", "CRCL"]} |
## Summary
### Clinical characteristics.
Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyr... | Allan-Herndon-Dudley Syndrome | c0795889 | 110 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK26373/ | 2021-01-18T20:46:47 | {"mesh": ["C537047"], "synonyms": ["MCT8 Deficiency", "MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency"]} |
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble... | Pantothenate kinase-associated neurodegeneration | c1846582 | 111 | medlineplus | https://medlineplus.gov/genetics/condition/pantothenate-kinase-associated-neurodegeneration/ | 2021-01-27T08:25:08 | {"gard": ["6564"], "mesh": ["C564603"], "omim": ["607236", "234200"], "synonyms": []} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Adenoiditis" – news · newspapers · books · scholar · JSTOR (July 2016) (Learn how and when to remove this template mess... | Adenoiditis | c0396023 | 112 | wikipedia | https://en.wikipedia.org/wiki/Adenoiditis | 2021-01-18T18:29:27 | {"umls": ["C0396023"], "wikidata": ["Q1640292"]} |
## Summary
### Clinical characteristics.
Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy) causing acute kidney injury... | Adenine Phosphoribosyltransferase Deficiency | c0268120 | 113 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK100238/ | 2021-01-18T20:47:08 | {"mesh": ["C538228"], "synonyms": ["2,8-Dihydroxyadeninuria; APRT Deficiency"]} |
A number sign (#) is used with this entry because C4B deficiency is caused by mutation in the C4B gene (120820).
Clinical Features
Partial deficiency of C4 was found in 3 persons during a screening of 42,000 healthy Japanese (Torisu et al., 1970).
Of 26 patients with autoimmune chronic active hepatitis beginning i... | COMPLEMENT COMPONENT 4B DEFICIENCY | c3280641 | 114 | omim | https://www.omim.org/entry/614379 | 2019-09-22T15:55:27 | {"doid": ["0060298"], "omim": ["614379"], "orphanet": ["169147"], "synonyms": ["Immunodeficiency due to C1, C4, or C2 component complement deficiency", "Alternative titles", "C4B DEFICIENCY", "Immunodeficiency due to an early component of complement deficiency"]} |
A number sign (#) is used with this entry because multiple epiphyseal dysplasia-5 (EDM5) is caused by heterozygous mutation in the matrilin-3 gene (MATN3; 602109) on chromosome 2p24.
Clinical Features
Mortier et al. (2001) reported a 3-generation Belgian family with an autosomal dominant form of multiple epiphyseal... | EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 | c1846843 | 115 | omim | https://www.omim.org/entry/607078 | 2019-09-22T16:09:46 | {"doid": ["0070299"], "mesh": ["C535505"], "omim": ["607078"], "orphanet": ["93311"], "synonyms": ["Alternative titles", "MULTIPLE EPIPHYSEAL DYSPLASIA, MATN3-RELATED", "MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY"], "genereviews": ["NBK1123"]} |
Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-rel... | Partington syndrome | c0796250 | 116 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94083 | 2021-01-23T17:25:09 | {"gard": ["4235"], "mesh": ["C536300"], "omim": ["309510"], "synonyms": ["Partington-Mulley syndrome", "X-linked intellectual disability-dystonia-dysarthria syndrome"]} |
A number sign (#) is used with this entry because of the association between late-onset Alzheimer disease-2 (AD2) and the apolipoprotein E (107741) E4 allele.
For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300.
Clinical Features
Using positron emission t... | ALZHEIMER DISEASE 2 | c0276496 | 117 | omim | https://www.omim.org/entry/104310 | 2019-09-22T16:45:15 | {"doid": ["0110035"], "mesh": ["D000544"], "omim": ["104310"], "orphanet": ["1020"], "synonyms": ["Alternative titles", "ALZHEIMER DISEASE 2, LATE-ONSET", "ALZHEIMER DISEASE ASSOCIATED WITH APOE4"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to thyrotoxic periodic paralysis, see 188580.
Mapping
Cheung et al. (2012) conducted a genomewide association study and a replication study with a total of 123 southern Chinese with thyrotoxic periodic paralysis (TTPP) ... | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 3 | c0268446 | 118 | omim | https://www.omim.org/entry/614834 | 2019-09-22T15:54:05 | {"omim": ["614834"], "orphanet": ["79102"]} |
A number sign (#) is used with this entry because alpha-fetoprotein deficiency (AFPD) is caused by homozygous mutation in the AFP gene (104150) on chromosome 4q13.
Description
Alpha-fetoprotein deficiency appears to be a benign genetic trait (Greenberg et al., 1992; Sharony et al., 2004).
Clinical Features
Faucet... | ALPHA-FETOPROTEIN DEFICIENCY | c1863081 | 119 | omim | https://www.omim.org/entry/615969 | 2019-09-22T15:50:26 | {"mesh": ["C566300"], "omim": ["615969"], "orphanet": ["168612"]} |
A number sign (#) is used with this entry because severe congenital neutropenia-3 (SCN3), also known as Kostmann disease, is caused by homozygous or compound heterozygous mutation in the HAX1 gene (605998) on chromosome 1q21.
Description
Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure ... | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE | c1853118 | 120 | omim | https://www.omim.org/entry/610738 | 2019-09-22T16:04:10 | {"mesh": ["C537592"], "omim": ["610738"], "icd-10": ["D70.0"], "orphanet": ["99749"], "synonyms": ["AGRANULOCYTOSIS, INFANTILE", "KOSTMANN DISEASE", "Alternative titles", "Severe congenital neutropenia type 3", "Infantile agranulocytosis"]} |
Exercise hypertension
SpecialtyCardiologist
Exercise hypertension is an excessive rise in blood pressure during exercise. Many of those with exercise hypertension have spikes in systolic pressure to 250 mmHg or greater.
A rise in systolic blood pressure to over 200 mmHg when exercising at 100 W is pathologica... | Exercise hypertension | None | 121 | wikipedia | https://en.wikipedia.org/wiki/Exercise_hypertension | 2021-01-18T19:06:24 | {"wikidata": ["Q5420056"]} |
A number sign (#) is used with this entry because of evidence that juvenile cataract with microcornea (CTRCT47) is caused by heterozygous mutation in the SLC16A12 gene (611910) on chromosome 10q23. One such family has been reported.
Clinical Features
Vandekerckhove et al. (2007) described a Swiss family in whic... | CATARACT 47 | c4310806 | 122 | omim | https://www.omim.org/entry/612018 | 2019-09-22T16:02:26 | {"omim": ["612018"], "orphanet": ["247794"], "synonyms": ["Alternative titles", "CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA, FORMERLY", "CATARACT, JUVENILE, WITH MICROCORNEA"]} |
A number sign (#) is used with this entry because of evidence that macular dystrophy with central cone involvement (CCMD) is caused by compound heterozygous mutation in the MFSD8 gene (611124) on chromosome 4q28.
Clinical Features
Roosing et al. (2015) studied a Dutch family in which 5 sibs, ranging in age from 54 ... | MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT | c4015371 | 123 | omim | https://www.omim.org/entry/616170 | 2019-09-22T15:49:44 | {"omim": ["616170"]} |
Riccardi (1982) described cases of neurofibromatosis that are sufficiently variant that they seem to warrant separation from the classic von Recklinghausen NF I (162200), the acoustic neuroma type, NF II (101000), and the mixed type, NF III (162260). The group still is undoubtedly heterogeneous. Iris Lisch nodules, o... | NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI | c0220695 | 124 | omim | https://www.omim.org/entry/162270 | 2019-09-22T16:37:37 | {"mesh": ["C537392"], "omim": ["162270"], "synonyms": ["Alternative titles", "NEUROFIBROMATOSIS, VARIANT FORM(S) OF", "NF IV", "NEUROFIBROMATOSIS, ATYPICAL"]} |
A number sign (#) is used with this entry because of evidence that Camurati-Engelmann disease results from domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1; 190180) on chromosome 19q13. Also see Camurati-Engelmann disease type 2 (606631) in which no mutation in the TGFB1 gen... | CAMURATI-ENGELMANN DISEASE | c0011989 | 125 | omim | https://www.omim.org/entry/131300 | 2019-09-22T16:41:39 | {"doid": ["4997"], "mesh": ["D003966"], "omim": ["131300"], "icd-10": ["Q78.3"], "orphanet": ["1328"], "synonyms": ["Alternative titles", "CED", "ENGELMANN DISEASE", "DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE", "PROGRESSIVE DIAPHYSEAL DYSPLASIA"], "genereviews": ["NBK1156"]} |
Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint... | Autosomal dominant otospondylomegaepiphyseal dysplasia | c1861481 | 126 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166100 | 2021-01-23T18:21:08 | {"gard": ["5021"], "mesh": ["C537494"], "omim": ["184840"], "umls": ["C1861481"], "icd-10": ["Q77.7"], "synonyms": ["AD OSMED", "Stickler syndrome type 3", "Stickler syndrome, non-ocular type"]} |
Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.
In the ... | Carbamoyl phosphate synthetase I deficiency | c4082171 | 127 | medlineplus | https://medlineplus.gov/genetics/condition/carbamoyl-phosphate-synthetase-i-deficiency/ | 2021-01-27T08:25:22 | {"gard": ["7269"], "mesh": ["D020165"], "omim": ["237300"], "synonyms": []} |
For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.
Mapping
Omran et al. (2002) studied a kindred of German ancestry with extended consanguinity and typical findings of SLSN. They identified a locus for SLSN in the region of the nephronophthisis-3 locus on ch... | SENIOR-LOKEN SYNDROME 3 | c0403553 | 128 | omim | https://www.omim.org/entry/606995 | 2019-09-22T16:09:48 | {"doid": ["0050576"], "mesh": ["C537580"], "omim": ["606995"], "orphanet": ["3156"]} |
A rare, small-vessel vasculitis characterized by skin purpura, arthritis, abdominal and/or renal involvement, IgA tissue deposits (arterioles, capillaries, and venules) and circulating IgA immune complexes.
## Epidemiology
The disease usually affects children and is rare in adults. Annual incidence in children is e... | Immunoglobulin A vasculitis | c0034152 | 129 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=761 | 2021-01-23T18:14:26 | {"gard": ["8204"], "mesh": ["D011695"], "umls": ["C0034152", "C0086922"], "icd-10": ["D69.0"], "synonyms": ["Anaphylactoid purpura", "Henoch-Schönlein purpura", "IgA vasculitis", "Purpura rheumatica", "Rheumatoid purpura"]} |
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Find sources: "Primary fibrinogenolysis" – news · newspapers · books · scholar · JSTOR (December 2020)
Primary fibrinog... | Primary fibrinogenolysis | None | 130 | wikipedia | https://en.wikipedia.org/wiki/Primary_fibrinogenolysis | 2021-01-18T18:52:41 | {"wikidata": ["Q7243127"]} |
A number sign (#) is used with this entry because autosomal recessive spastic paraplegia-56 (SPG56) is caused by homozygous or compound heterozygous mutation in the CYP2U1 gene (610670) on chromosome 4q25.
Description
SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressiv... | SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE | c3539507 | 131 | omim | https://www.omim.org/entry/615030 | 2019-09-22T15:53:20 | {"doid": ["0110808"], "omim": ["615030"], "orphanet": ["320411"], "synonyms": ["SPG56"]} |
## Clinical Features
Abou Jamra et al. (2011) reported a consanguineous Syrian family (MR050) in which individuals had nonsyndromic severe mental retardation. Symptoms included neonatal muscular hypotonia, moderate motor delay, tremor, and severe intellectual disability with no speech. One patient later developed h... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23 | c3280542 | 132 | omim | https://www.omim.org/entry/614344 | 2019-09-22T15:55:38 | {"doid": ["0060308"], "omim": ["614344"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
Hemimegalencephaly is a rare malformation involving one side of the brain. It may occur alone or in association with other syndromes such as Proteus syndrome, tuberous sclerosis, linear sebaceous nevus syndrome, neurofibromatosis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome. Children with this disorder may h... | Hemimegalencephaly | c0431391 | 133 | gard | https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly | 2021-01-18T18:00:07 | {"mesh": ["D065705"], "orphanet": ["99802"], "synonyms": ["Macrencephaly", "Unilateral Megalencephaly"]} |
## Description
African iron overload is a distinct iron-loading disorder prevalent in Africa. Formerly termed Bantu siderosis, the disorder results from a predisposition to iron loading that is exacerbated by excessive intake of dietary iron. It is particularly a problem among Africans who drink a traditional beer ... | IRON OVERLOAD IN AFRICA | c0268063 | 134 | omim | https://www.omim.org/entry/601195 | 2019-09-22T16:15:15 | {"doid": ["0111033"], "mesh": ["C537904"], "omim": ["601195"], "orphanet": ["139507"], "synonyms": ["Alternative titles", "AFRICAN IRON OVERLOAD", "BANTU SIDEROSIS"]} |
Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may incl... | Infantile cerebellar retinal degeneration | c3281192 | 135 | gard | https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration | 2021-01-18T17:59:47 | {"omim": ["614559"], "orphanet": ["313850"], "synonyms": ["Infantile cerebellar-retinal degeneration", "ICRD"]} |
Carnitine palmitoyltransferase I deficiency (CPT1A deficiency) is an inherited metabolic condition that prevents the body from converting certain fats (long-chain fatty acids) into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is required by cells t... | Carnitine palmitoyl transferase 1A deficiency | c1829703 | 136 | gard | https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1a-deficiency | 2021-01-18T18:01:37 | {"mesh": ["C535588"], "omim": ["255120"], "umls": ["C1829703"], "orphanet": ["156"], "synonyms": ["Carnitine palmitoyltransferase 1A deficiency", "CPT1A deficiency", "Hepatic CPT1", "Hepatic carnitine palmitoyltransferase 1 deficiency", "L-CPT 1 deficiency", "Carnitine palmitoyl transferase IA deficiency", "Hepatic car... |
James (1961, 1978) reported familial aggregation for reduced two-point discrimination, tested on the forearm. Normally, a person can distinguish two points of a divider when they are between 2 mm and 10 mm apart; affected persons averaged 220 mm as the distance of two-point appreciation (James, 1961). Later, James (1... | DISCRIMINATION, TWO-POINT, REDUCTION IN | c1852074 | 137 | omim | https://www.omim.org/entry/126180 | 2019-09-22T16:42:17 | {"omim": ["126180"], "synonyms": ["Alternative titles", "SENSORY DISCRIMINATION"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-25 (SCAR25) is caused by homozygous mutation in the ATG5 gene (604261) on chromosome 6q21. One such family has been reported.
Clinical Features
Kim et al. (2016) reported 2 brothers, born of consanguineous ... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | c4539808 | 138 | omim | https://www.omim.org/entry/617584 | 2019-09-22T15:45:31 | {"omim": ["617584"]} |
Pierre Robin sequence is a condition present at birth, in which the infant has a smaller than normal lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (cleft palate). This combination of features can lead to difficulty breathing and prob... | Pierre Robin sequence | c0031900 | 139 | gard | https://rarediseases.info.nih.gov/diseases/4347/pierre-robin-sequence | 2021-01-18T17:58:19 | {"mesh": ["D010855"], "omim": ["261800"], "umls": ["C0031900"], "orphanet": ["718"], "synonyms": ["Pierre-Robin syndrome", "Glossoptosis, micrognathia, and cleft palate"]} |
Anhalt et al. (1995) described a boy with midthoracic hemivertebrae, flat vertebrae, narrow anterior-posterior (A-P) diameter of the vertebral bodies, and absence of normal spinous processes of the lower thoracic and lumbar vertebrae. At 32 months of age he was evaluated for short stature. His father was very short (... | SPINAL DYSPLASIA, ANHALT TYPE | c1832464 | 140 | omim | https://www.omim.org/entry/601344 | 2019-09-22T16:15:00 | {"mesh": ["C563348"], "omim": ["601344"]} |
Yersinia pestis
Urban plague is an infectious disease among rodent species that live in close association with humans in urban areas. It is caused by the bacterium Yersinia pestis which is the same bacterium that causes bubonic and pneumonic plague in humans. Plague was first introduced into the United States in 190... | Urban plague | None | 141 | wikipedia | https://en.wikipedia.org/wiki/Urban_plague | 2021-01-18T18:41:25 | {"wikidata": ["Q16993341"]} |
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: "Speech sound disorder" – news · newspapers · books · scholar · JSTOR (December 2013) (Learn how and when to remove ... | Speech sound disorder | c4019167 | 142 | wikipedia | https://en.wikipedia.org/wiki/Speech_sound_disorder | 2021-01-18T18:58:32 | {"mesh": ["D066229"], "umls": ["C1838022"], "wikidata": ["Q4133283"]} |
Cauda equina syndrome (CES) refers to a group of symptoms that occur when nerves in the cauda equina (a collection of nerve roots that spread out from the bottom of the spinal cord) become compressed or damaged. These nerves roots connect the central nervous system and peripheral nervous system. CES can lead to p... | Cauda equina syndrome | c0392548 | 143 | gard | https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome | 2021-01-18T18:01:35 | {"mesh": ["D000077684"], "synonyms": []} |
## Clinical Features
Najmabadi et al. (2007) reported a large consanguineous Iranian family (M025) in which 4 individuals had nonsyndromic moderate mental retardation.
Kuss et al. (2011) reported another consanguineous Iranian family (8500156) in which 4 members had nonsyndromic moderate mental retardation.
Mappi... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11 | c1970193 | 144 | omim | https://www.omim.org/entry/611097 | 2019-09-22T16:03:38 | {"doid": ["0060308"], "mesh": ["C567012"], "omim": ["611097"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
Nyhan et al. (1978) described a male patient with self-mutilation, mental retardation, choreoathetosis, spasticity and hyperuricemia, identical to the clinical picture of HGPRT deficiency (308000). Although HGPRT and purine salvage were normal, an abnormality in synthesis or catabolism of trinucleotides was suggested... | LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT | c0023374 | 145 | omim | https://www.omim.org/entry/308950 | 2019-09-22T16:17:55 | {"mesh": ["D007926"], "omim": ["308950"], "orphanet": ["510"]} |
## Clinical Features
Van den Berghe et al. (1978) described a family in which 4 males in 2 generations showed almost complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet. Conductor females showed slight hypoplasia of the ulnar side of the hand and mild syndactyly of t... | ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET | c1839123 | 146 | omim | https://www.omim.org/entry/314360 | 2019-09-22T16:17:11 | {"mesh": ["C536936"], "omim": ["314360"], "orphanet": ["1122"]} |
Common viral infection of the upper respiratory tract
Common cold
Other namesCold, acute viral nasopharyngitis, nasopharyngitis, viral rhinitis, rhinopharyngitis, acute coryza, head cold[1]Upper respiratory tract infection (URTI)[2]
A representation of the molecular surface of one variant of human rhinovirus
S... | Common cold | c0009443 | 147 | wikipedia | https://en.wikipedia.org/wiki/Common_cold | 2021-01-18T18:51:48 | {"mesh": ["D003139"], "umls": ["C0009443"], "wikidata": ["Q12125"]} |
A number sign (#) is used with this entry because hypomyelinating leukodystrophy-6 (HLD6) is caused by heterozygous mutation in the TUBB4A gene (602662) on chromosome 19p13.
Mutation in the TUBB4A gene can also cause dystonia-4 (DYT4; 128101).
Description
Hypomyelinating leukodystrophy-6, also known as hypomye... | LEUKODYSTROPHY, HYPOMYELINATING, 6 | c2676244 | 148 | omim | https://www.omim.org/entry/612438 | 2019-09-22T16:01:29 | {"doid": ["0060798"], "mesh": ["C567314"], "omim": ["612438"], "orphanet": ["139441"], "synonyms": ["LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM", "Alternative titles", "H-ABC"], "genereviews": ["NBK395611"]} |
Gianotti Crosti syndrome (GCS) is a rare childhood skin condition characterized by a papular rash with blisters on the skin of the legs, buttocks, and arms. It typically affects children between 9 months and 9 years of age. Skin lesions typically last at least 10 days and often last for several weeks. The lesions are... | Gianotti Crosti syndrome | c0263372 | 149 | gard | https://rarediseases.info.nih.gov/diseases/6499/gianotti-crosti-syndrome | 2021-01-18T18:00:20 | {"mesh": ["D000169"], "synonyms": ["Acrodermatitis, infantile lichenoid", "Acrodermatitis, papular infantile", "Crosti-gianotti syndrome", "GCS", "PAC", "Papular acrodermatitis of childhood", "PAS"]} |
A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase le... | ISPD-related limb-girdle muscular dystrophy R20 | c4015095 | 150 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352479 | 2021-01-23T17:53:09 | {"omim": ["616052"], "icd-10": ["G71.0"], "synonyms": ["Autosomal recessive limb-girdle muscular dystrophy type 2U", "ISPD-related LGMD R20", "LGMD type 2U", "LGMD2U", "Limb-girdle muscular dystrophy type 2U"]} |
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominan... | Omodysplasia | c2750355 | 151 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2733 | 2021-01-23T18:12:50 | {"mesh": ["C567664"], "omim": ["164745", "258315"], "icd-10": ["Q78.8"]} |
Sarcomatoid carcinoma of the lung
SpecialtyOncology/pulmonology
Sarcomatoid carcinoma of the lung is a term that encompasses five distinct histological subtypes of lung cancer, including (1) pleomorphic carcinoma, (2) spindle cell carcinoma, (3) giant cell carcinoma, (4) carcinosarcoma, or (5) pulmonary blasto... | Sarcomatoid carcinoma of the lung | c1708781 | 152 | wikipedia | https://en.wikipedia.org/wiki/Sarcomatoid_carcinoma_of_the_lung | 2021-01-18T18:45:57 | {"umls": ["C1708781"], "wikidata": ["Q7423600"]} |
## Clinical Features
Carmel and Herbert (1969) reported 2 adult brothers from a Puerto Rican-Corsican family with decreased serum cobalamin (vitamin B12) due to congenital absence of the R-type binders of cobalamin in serum, saliva, cerebrospinal fluid, gastric juice, and granulocytes. The saliva contained no i... | TRANSCOBALAMIN I DEFICIENCY | c0342700 | 153 | omim | https://www.omim.org/entry/193090 | 2019-09-22T16:31:58 | {"mesh": ["C562798"], "omim": ["193090"], "orphanet": ["2967"], "synonyms": ["Alternative titles", "TCN1 DEFICIENCY", "COBALAMIN PSEUDODEFICIENCY DUE TO TRANSCOBALAMIN DEFICIENCY", "COBALAMIN R BINDER PROTEIN DEFICIENCY"]} |
Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.
G... | Glycogen storage disease type III | c0017922 | 154 | medlineplus | https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii/ | 2021-01-27T08:25:28 | {"gard": ["9442"], "mesh": ["D006010"], "omim": ["232400"], "synonyms": []} |
Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body.
Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. The disorder cau... | Coats plus syndrome | c2677299 | 155 | medlineplus | https://medlineplus.gov/genetics/condition/coats-plus-syndrome/ | 2021-01-27T08:24:53 | {"gard": ["6121"], "mesh": ["C567401"], "omim": ["612199"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that at least some cases of the wrinkly skin syndrome are caused by homozygous or compound heterozygous mutations in the ATP6V0A2 gene (611716) on chromosome 12q24.
The occurrence of mutations in the same gene in autosomal recessive cutis laxa type IIA (A... | WRINKLY SKIN SYNDROME | c0406587 | 156 | omim | https://www.omim.org/entry/278250 | 2019-09-22T16:21:08 | {"mesh": ["C536750"], "omim": ["278250"], "orphanet": ["2834", "357058"], "genereviews": ["NBK5200"]} |
Deformity of the finger or toe nails associated with a number of diseases
Clubbing
Other namesDrumstick fingers, Hippocratic fingers, digital clubbing, watch-glass nails[1]
Clubbing
SpecialtyPulmonology
Nail clubbing, also known as digital clubbing or clubbing, is a deformity of the finger or toe nails as... | Nail clubbing | c0263538 | 157 | wikipedia | https://en.wikipedia.org/wiki/Nail_clubbing | 2021-01-18T18:50:25 | {"icd-10": ["R68.3"], "wikidata": ["Q1340669"]} |
Abortion in Japan is available to women in limited circumstances, including endangerment of their health or economic hardship. Chapter XXIX of the Penal Code of Japan makes abortion de jure illegal in the country, but exceptions to the law are broad enough that it is widely accepted and practiced. Meanwhile, the ... | Abortion in Japan | None | 158 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Japan | 2021-01-18T18:57:21 | {"wikidata": ["Q4668474"]} |
Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitiv... | Autosomal recessive spastic paraplegia type 48 | c3150901 | 159 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306511 | 2021-01-23T17:01:50 | {"omim": ["613647"], "icd-10": ["G11.4"], "synonyms": ["SPG48"]} |
Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The wo... | Keratoderma with woolly hair | c1864850 | 160 | medlineplus | https://medlineplus.gov/genetics/condition/keratoderma-with-woolly-hair/ | 2021-01-27T08:25:18 | {"gard": ["5595", "8167"], "mesh": ["C566471"], "omim": ["610476", "605676", "615821", "601214", "616099"], "synonyms": []} |
Myotonic dystrophy type 1 (MD1), one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, endocrine system, and central nervous system). MD1 has three forms that somewhat overlap: the mild form, classic form, and congeni... | Myotonic dystrophy type 1 | c3250443 | 161 | gard | https://rarediseases.info.nih.gov/diseases/8310/myotonic-dystrophy-type-1 | 2021-01-18T17:58:50 | {"mesh": ["C538008"], "omim": ["160900"], "orphanet": ["273"], "synonyms": ["DM1", "Steinert myotonic dystrophy", "Dystrophia myotonica type 1", "Steinert's disease", "Myotonic dystrophy type 1", "MD1", "Steinert disease"]} |
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.
## Epidemiology
To date, FFDD2 has been reported in over 20 cases from 8 families.
## Clinical description
... | Focal facial dermal dysplasia type II | c1744559 | 162 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=398173 | 2021-01-23T18:26:03 | {"mesh": ["C536385"], "omim": ["614973"], "umls": ["C1744559"], "icd-10": ["Q82.8"], "synonyms": ["FFDD type II", "FFDD2", "Focal facial dermal dysplasia 2, Brauer-Setleis type"]} |
A number sign (#) is used with this entry because of evidence that lethal congenital contracture syndrome-10 (LCCS10) is caused by homozygous mutation in the NEK9 gene (609798) on chromosome 14q24.
For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrom... | LETHAL CONGENITAL CONTRACTURE SYNDROME 10 | c4310760 | 163 | omim | https://www.omim.org/entry/617022 | 2019-09-22T15:47:13 | {"omim": ["617022"], "orphanet": ["464366"], "synonyms": ["Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome"]} |
A number sign (#) is used with this entry because an expansion of a CAG repeat in a brain-specific regulatory subunit of the protein phosphatase PP2A (PPP2R2B; 604325) is the cause of the disorder.
Normal alleles carry 7 to 32 triplets, whereas disease alleles carry 51 to 78 triplets (Bahl et al., 2005).
For a gene... | SPINOCEREBELLAR ATAXIA 12 | c1858501 | 164 | omim | https://www.omim.org/entry/604326 | 2019-09-22T16:12:09 | {"doid": ["0050962"], "mesh": ["C565790"], "omim": ["604326"], "orphanet": ["98762"]} |
Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a ... | Rhabdomyosarcoma of the cervix uteri | c4289809 | 165 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213802 | 2021-01-23T18:16:59 | {"icd-10": ["C53.0", "C53.1", "C53.8"], "synonyms": ["Cervical rhabdomyosarcoma"]} |
Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to s... | Sporadic infantile bilateral striatal necrosis | c4087175 | 166 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=225147 | 2021-01-23T18:55:59 | {"icd-10": ["G23.2"], "synonyms": ["ABSN", "Acute bilateral striatal necrosis", "Sporadic IBSN", "Sporadic infantile striatonigral degeneration", "Sporadic infantile striatonigral necrosis"]} |
A number sign (#) is used with this entry because of evidence that in some instances familial gestational hyperthyroidism is caused by heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR; 603372) on chromosome 14q31.
Description
Some degree of stimulation of the thyroid gland b... | HYPERTHYROIDISM, FAMILIAL GESTATIONAL | c1863959 | 167 | omim | https://www.omim.org/entry/603373 | 2019-09-22T16:13:05 | {"doid": ["7998"], "mesh": ["C566384"], "omim": ["603373"], "orphanet": ["99819"]} |
A number sign (#) is used with this entry because Muenke craniosynostosis syndrome is caused by a specific heterozygous mutation of the fibroblast growth factor receptor-3 gene (FGFR3; 134934), pro250 to arg (P250R; 134934.0014), on chromosome 4p16.
Description
Muenke syndrome is an autosomal dominant disorder char... | MUENKE SYNDROME | c1864436 | 168 | omim | https://www.omim.org/entry/602849 | 2019-09-22T16:13:23 | {"doid": ["0060703"], "mesh": ["C537369"], "omim": ["602849"], "orphanet": ["53271"], "synonyms": ["Alternative titles", "MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS"], "genereviews": ["NBK1415", "NBK1455"]} |
Human disease
MBL deficiency
SpecialtyImmunology
MBL deficiency is a pathology of the innate immune system involving Mannan-binding lectin pathway components such as MBL2.
It is thought that 5–10% of the population have an MBL deficiency of some degree.[1] There are varying degrees of MBL deficiency; some pe... | MBL deficiency | c3280586 | 169 | wikipedia | https://en.wikipedia.org/wiki/MBL_deficiency | 2021-01-18T18:49:25 | {"gard": ["10309"], "mesh": ["C563602"], "umls": ["C3280586"], "wikidata": ["Q16994031"]} |
A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibro... | IgG4-related sclerosing cholangitis | c4302109 | 170 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=447764 | 2021-01-23T18:09:42 | {"icd-10": ["K83.0"]} |
Austrian syndrome is a medical condition first described by Robert Austrian in 1957. The classical triad consists of pneumonia, endocarditis, and meningitis, all caused by Streptococcus pneumoniae. It is associated with alcoholism, due to the presence of hyposplenia (reduced splenic functioning), and can be seen in m... | Austrian syndrome | None | 171 | wikipedia | https://en.wikipedia.org/wiki/Austrian_syndrome | 2021-01-18T18:37:02 | {"wikidata": ["Q3961667"]} |
Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precurs... | Growth retardation-mild developmental delay-chronic hepatitis syndrome | None | 172 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391366 | 2021-01-23T17:55:29 | {} |
A canine vector-borne disease (CVBD) is one of "a group of globally distributed and rapidly spreading illnesses that are caused by a range of pathogens transmitted by arthropods including ticks, fleas, mosquitoes and phlebotomine sandflies."[1] CVBDs are important in the fields of veterinary medicine, animal welfare,... | Canine vector-borne disease | None | 173 | wikipedia | https://en.wikipedia.org/wiki/Canine_vector-borne_disease | 2021-01-18T18:57:17 | {"wikidata": ["Q1024563"]} |
A number sign (#) is used with this entry because of evidence that sideroblastic anemia-2 (SIDBA2), which is refractory to pyridoxine treatment, is caused by homozygous or compound heterozygous mutation in the SLC25A38 gene (610819) on chromosome 3p22.
For a discussion of genetic heterogeneity of sideroblastic a... | ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY | c4225425 | 174 | omim | https://www.omim.org/entry/205950 | 2019-09-22T16:31:03 | {"doid": ["0060065"], "omim": ["205950"], "orphanet": ["260305"], "synonyms": ["ARSA", "Congenital sideroblastic anemia"]} |
Calcium pyrophosphate dihydrate disease
Other namesPseudogout
Polarized light microscopy of CPPD, showing rhombus-shaped calcium pyrophosphate crystals with positive birefringence.
Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and pyrophosphate arthropathy, is a ... | Calcium pyrophosphate dihydrate crystal deposition disease | c0856830 | 175 | wikipedia | https://en.wikipedia.org/wiki/Calcium_pyrophosphate_dihydrate_crystal_deposition_disease | 2021-01-18T19:10:30 | {"mesh": ["C563162"], "umls": ["C0856830"], "wikidata": ["Q64348505"]} |
Herpes esophagitis
Endoscopic image of Herpes esophagitis
SpecialtyInfectious disease, gastroenterology
Herpes esophagitis is a viral infection of the esophagus caused by Herpes simplex virus (HSV).
While the disease most often occurs in immunocompromised patients, including post-chemotherapy, immunosup... | Herpes esophagitis | c0238112 | 176 | wikipedia | https://en.wikipedia.org/wiki/Herpes_esophagitis | 2021-01-18T18:55:17 | {"icd-9": ["054.79"], "icd-10": ["B00.9"], "wikidata": ["Q2849596"]} |
A number sign (#) is used with this entry because of evidence that RIDDLE syndrome (RIDL) is caused by homozygous or compound heterozygous mutation in the RNF168 gene (612688) on chromosome 3q29.
Description
RIDDLE is an acronym for the major features of this syndrome: radiosensitivity, immunodeficiency, dysmor... | RIDDLE SYNDROME | c2677792 | 177 | omim | https://www.omim.org/entry/611943 | 2019-09-22T16:02:36 | {"doid": ["0090113"], "mesh": ["C567453"], "omim": ["611943"], "orphanet": ["420741"], "synonyms": ["Alternative titles", "RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FACIAL FEATURES, AND LEARNING DIFFICULTIES"]} |
## Clinical Features
Waggoner et al. (1942) described 6 sisters in a sibship of 11 with agenesis of the white matter and mental retardation, surviving to adulthood. The family was of Finnish extraction. No parental consanguinity was known.
Also see 224250.
Neuro \- White matter agenesis \- Mental retardation I... | AGENESIS OF CEREBRAL WHITE MATTER | c1859969 | 178 | omim | https://www.omim.org/entry/202600 | 2019-09-22T16:31:23 | {"omim": ["202600"]} |
This article needs editing for compliance with Wikipedia's Manual of Style. In particular, it has problems with not using MOS. Please help improve it if you can. (February 2019) (Learn how and when to remove this template message)
Pancreatic disease
SpecialtyGastroenterology
Pancreatic diseases include:
... | Pancreatic disease | c0030286 | 179 | wikipedia | https://en.wikipedia.org/wiki/Pancreatic_disease | 2021-01-18T18:59:30 | {"mesh": ["D010182"], "umls": ["C0030286"], "orphanet": ["101937"], "wikidata": ["Q7130407"]} |
Pure red cell aplasia
SpecialtyHematology
Pure red cell aplasia (PRCA) or erythroblastopenia refers to a type of anemia affecting the precursors to red blood cells but not to white blood cells. In PRCA, the bone marrow ceases to produce red blood cells. There are multiple etiologies that can cause PRCA. Th... | Pure red cell aplasia | c0034902 | 180 | wikipedia | https://en.wikipedia.org/wiki/Pure_red_cell_aplasia | 2021-01-18T18:35:26 | {"gard": ["10898", "7504"], "mesh": ["D012010"], "umls": ["C0034902"], "icd-9": ["284.8"], "icd-10": ["D60"], "orphanet": ["98872"], "wikidata": ["Q751631"]} |
Nicotine dependence
Other namestobacco dependence; tobacco use disorder
Play media
Video explanation
Nicotine dependence[notes 1] is a state of dependence upon nicotine.[1] Nicotine dependence is a chronic, relapsing disease defined as a compulsive craving to use the drug, despite harmful social ... | Nicotine dependence | c0028043 | 181 | wikipedia | https://en.wikipedia.org/wiki/Nicotine_dependence | 2021-01-18T18:40:17 | {"mesh": ["D014029"], "umls": ["C0028043"], "wikidata": ["Q18553444"]} |
Progressive nodular histiocytosis
SpecialtyDermatology
Progressive nodular histiocytosis is a cutaneous condition clinically characterized by the development of two types of skin lesions: superficial papules and deeper larger subcutaneous nodules.[1]:718
## See also[edit]
* Non-X histiocytosis
## Refe... | Progressive nodular histiocytosis | c4707331 | 182 | wikipedia | https://en.wikipedia.org/wiki/Progressive_nodular_histiocytosis | 2021-01-18T18:36:20 | {"orphanet": ["158022"], "synonyms": [], "wikidata": ["Q7248852"]} |
A number sign (#) is used with this entry because Bart-Pumphrey syndrome is caused by heterozygous mutation in the GJB2 gene (121011) on chromosome 13q12.
Clinical Features
Bart and Pumphrey (1967) described a kindred in which many members had knuckle pads, leukonychia, and deafness due to a lesion of the cochl... | KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS | c0266004 | 183 | omim | https://www.omim.org/entry/149200 | 2019-09-22T16:39:08 | {"doid": ["0050658"], "mesh": ["C537210"], "omim": ["149200"], "orphanet": ["2698"], "synonyms": ["Alternative titles", "BART-PUMPHREY SYNDROME"]} |
Rahim Adam et al. (1985) reported a hemorrhagic diathesis due to combined deficiency of factors V and VIII in a Syrian brother and sister. Unlike reported cases, no abnormality of protein C (612283) or its inhibitor was found. Both parents and 1 of 3 clinically normal sibs had levels of factors V and VIII greater tha... | FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR | c1856883 | 184 | omim | https://www.omim.org/entry/227310 | 2019-09-22T16:28:05 | {"mesh": ["C565577"], "omim": ["227310"], "orphanet": ["35909"]} |
Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.
Individuals with Feingold syndrome type 1 or type 2 have characteristic abnormalities of thei... | Feingold syndrome | c0796068 | 185 | medlineplus | https://medlineplus.gov/genetics/condition/feingold-syndrome/ | 2021-01-27T08:25:08 | {"gard": ["8407"], "mesh": ["C537734"], "omim": ["164280", "614326"], "synonyms": []} |
For a phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 (107970).
Clinical Features
Li et al. (2000) reported a North American family with early-onset arrhythmogenic right ventricular dysplasia (ARVD) and high penetrance. All of the children with the disease haplotype had ... | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6 | c1862511 | 186 | omim | https://www.omim.org/entry/604401 | 2019-09-22T16:11:59 | {"doid": ["0110075"], "mesh": ["C566254"], "omim": ["107970", "604401"], "orphanet": ["217656"], "synonyms": ["Familial isolated ARVD", "Familial isolated ARVC", "Alternative titles", "Familial isolated arrhythmogenic ventricular dysplasia", "Familial isolated arrhythmogenic ventricular cardiomyopathy", "Familial isola... |
Group of genetic diseases involving the harmful accumulation of lipids in cells
Lipid storage disorder
SpecialtyEndocrinology
A lipid storage disorder (or lipidosis) is any one of a group of inherited metabolic disorders in which harmful amounts of fats or lipids accumulate in some of the body’s cells and tis... | Lipid storage disorder | c0023794 | 187 | wikipedia | https://en.wikipedia.org/wiki/Lipid_storage_disorder | 2021-01-18T18:37:27 | {"mesh": ["D008064"], "umls": ["C0023794", "C0029591"], "orphanet": ["79204"], "wikidata": ["Q3540902"]} |
Tubulointerstitial nephritis and uveitis
Other namesAcute tubulointerstitial nephritis and uveitis syndrome
SpecialtyOphthalmology
Tubulointerstitial nephritis and uveitis (TINU) is a rare medical condition in which there is uveitis (inflammation of the uvea in the eye) together with tubulointerstitial n... | Tubulointerstitial nephritis and uveitis | c1843273 | 188 | wikipedia | https://en.wikipedia.org/wiki/Tubulointerstitial_nephritis_and_uveitis | 2021-01-18T19:09:29 | {"gard": ["9252"], "mesh": ["C536922"], "umls": ["C1843273"], "orphanet": ["91500"], "wikidata": ["Q3961624"]} |
A type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.
## Epidemiology
Annual incidence is estimated between 1 to 10 new cases/million population/year, and prevalence between 1/50,000 and 1/10,000. Dermatomyositis (DM) is more common in women... | Dermatomyositis | c0011633 | 189 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221 | 2021-01-23T18:44:51 | {"gard": ["6263"], "mesh": ["D003882"], "umls": ["C0011633", "C0221056"], "icd-10": ["M33.0", "M33.1"], "synonyms": ["Adult dermatomyositis"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spastic paraplegia-47 (SPG47) is caused by homozygous mutation in the AP4B1 gene (607245) on chromosome 1p13.
Description
Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypoto... | SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | c3279738 | 190 | omim | https://www.omim.org/entry/614066 | 2019-09-22T15:56:39 | {"doid": ["0110799"], "omim": ["614066"], "orphanet": ["280763"], "synonyms": ["CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 5, FORMERLY", "Alternative titles", "AP4 deficiency syndrome"], "genereviews": ["NBK535153"]} |
An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.
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*[c.... | Toxic epidermal necrolysis | c0014518 | 191 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=537 | 2021-01-23T17:29:05 | {"mesh": ["D013262"], "umls": ["C0014518"], "icd-10": ["L51.2"], "synonyms": ["Lyell syndrome"]} |
This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.
## Epidemiology
So far, the syndrome has been described in four children.
## Diagnostic methods
The initial diagnosis was Sturge-... | Autism-facial port-wine stain syndrome | None | 192 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137911 | 2021-01-23T17:08:46 | {"gard": ["10303"]} |
Elbow fractures are any broken bone around the elbow joint.They include among others:[1]
* Olecranon fractures
* Supracondylar humerus fractures
* Radial head fractures
The terrible triad of the elbow (not to be confused with the terrible triad of the knee) is a combination of:[2]
* A fracture of the head ... | Elbow fracture | c0600106 | 193 | wikipedia | https://en.wikipedia.org/wiki/Elbow_fracture | 2021-01-18T18:45:44 | {"umls": ["C0600106"], "icd-10": ["S52.0"], "wikidata": ["Q3752478"]} |
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations ... | CHARGE syndrome | c0265354 | 194 | medlineplus | https://medlineplus.gov/genetics/condition/charge-syndrome/ | 2021-01-27T08:25:26 | {"gard": ["29"], "mesh": ["D058747"], "omim": ["214800"], "synonyms": []} |
Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movement... | Combined oxidative phosphorylation defect type 13 | c3554129 | 195 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319514 | 2021-01-23T17:16:48 | {"omim": ["614932"], "icd-10": ["G71.3"], "synonyms": ["COXPD13"]} |
Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder that affects the lungs. It is present from birth and usually becomes apparent in the first few days of life with respiratory failure. It sometimes is apparent before birth with non-immune hydrops fetalis and pleural effusion (fluid in the lu... | Congenital pulmonary lymphangiectasia | c1849554 | 196 | gard | https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia | 2021-01-18T18:01:07 | {"mesh": ["C537727"], "omim": ["265300"], "umls": ["C1849554"], "orphanet": ["2414"], "synonyms": ["CPL", "Lymphangiomatosis pulmonary", "Pulmonary cystic lymphangiectasis", "Lymphangiectasia pulmonary congenital"]} |
A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dy... | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | c3553816 | 197 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324262 | 2021-01-23T17:28:19 | {"omim": ["614831"], "icd-10": ["G11.1"], "synonyms": ["Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency", "Autosomal recessive spinocerebellar ataxia type 13", "SCAR13"]} |
Premature thelarche
SpecialtyGynecology, endocrinology
Premature thelarche (PT) is a medical condition, characterised by isolated breast development in female infants. It occurs in females younger than 8 years, with the highest occurrence before the age of 2. PT is rare, occurring in 2.2-4.7% of females aged 0... | Premature thelarche | c0425772 | 198 | wikipedia | https://en.wikipedia.org/wiki/Premature_thelarche | 2021-01-18T18:43:05 | {"icd-10": ["E30.8"], "wikidata": ["Q26815924"]} |
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bone... | Osteoporosis-pseudoglioma syndrome | c0432252 | 199 | medlineplus | https://medlineplus.gov/genetics/condition/osteoporosis-pseudoglioma-syndrome/ | 2021-01-27T08:24:57 | {"gard": ["4160"], "mesh": ["C536063"], "omim": ["259770"], "synonyms": []} |
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