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A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-31 (COXPD31) is caused by homozygous or compound heterozygous mutation in the MIPEP gene (602241) on chromosome 13q12.
Description
Combined oxidative phosphorylation deficiency-31 is an autosomal recessi... | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 | c4310661 | 30,200 | omim | https://www.omim.org/entry/617228 | 2019-09-22T15:46:25 | {"omim": ["617228"], "orphanet": ["478049"], "synonyms": []} |
Pseudohypoaldosteronism
In pseudohypoaldosteronism, aldosterone is elevated (hyperaldosteronism), but because the body fails to respond to it, it appears similar to hypoaldosteronism.
SpecialtyNephrology
Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism.[1] However, the condition is ... | Pseudohypoaldosteronism | c0033805 | 30,201 | wikipedia | https://en.wikipedia.org/wiki/Pseudohypoaldosteronism | 2021-01-18T18:45:46 | {"gard": ["4671"], "mesh": ["D011546"], "umls": ["CL495850", "C0033805"], "icd-10": ["N25.8"], "orphanet": ["444916"], "wikidata": ["Q200745"]} |
Woods et al. (1995) reported the case of an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. Seckel syndrome was the initial diagnosis. The infant became pancytopenic at 16 months of age and died soon thereafter. His bone marrow was of normal cellula... | INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY | c0265202 | 30,202 | omim | https://www.omim.org/entry/600546 | 2019-09-22T16:16:03 | {"omim": ["600546"], "orphanet": ["808"]} |
A number sign (#) is used with this entry because juvenile-onset Parkinson disease-19A (PARK19A) and early-onset Parkinson disease-19B (PARK19B) are caused by homozygous mutation in the DNAJC6 gene (608375) on chromosome 1p31.
Description
Parkinson disease-19A is an autosomal recessive neurodegenerative disorder ch... | PARKINSON DISEASE 19A, JUVENILE-ONSET | c4310802 | 30,203 | omim | https://www.omim.org/entry/615528 | 2019-09-22T15:51:49 | {"doid": ["0060891"], "omim": ["615528"], "orphanet": ["2828", "391411"], "synonyms": ["Early-onset Parkinson disease", "Alternative titles", "YOPD", "PARK19, FORMERLY"]} |
A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili tort... | Acrofacial dysostosis, Palagonia type | c1866168 | 30,204 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1787 | 2021-01-23T18:45:50 | {"gard": ["499"], "mesh": ["C538185"], "omim": ["601829"], "umls": ["C1866168"], "icd-10": ["Q75.4"]} |
Collins et al. (1995) described a woman with congenital dislocation of the hips, epicanthus, flat face, and slight joint laxity. Her growth was normal. Her 3 daughters were relatively short and had congenital dislocation of the hips, hyperextensibility of joints, and characteristic facial appearance (flat face with b... | DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM | c1832353 | 30,205 | omim | https://www.omim.org/entry/601450 | 2019-09-22T16:14:43 | {"mesh": ["C563315"], "omim": ["601450"], "orphanet": ["2412"], "synonyms": ["Collins-Pope syndrome", "Alternative titles", "HIP, CONGENITAL DISLOCATION OF, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM"]} |
Sudden Wealth Syndrome (SWS)
SpecialtyAbnormal Psychology
SymptomsSocial isolation, paranoia, uncertainty, shock[1]
DurationDependent on situation[2]
CausesSudden lottery winnings, large inheritances, gambling winnings, trading cryptocurrencies (Bitcoin)[3]
Risk factorsDepression (mood), Anxiety Disorders, ... | Sudden wealth syndrome | None | 30,206 | wikipedia | https://en.wikipedia.org/wiki/Sudden_wealth_syndrome | 2021-01-18T18:31:48 | {"wikidata": ["Q7633608"]} |
Teebi (1991) described brother and sister, offspring of healthy first-cousin Palestinian Arab parents, who had trigonocephaly, brachycephaly, bulbous nose which was slightly bifid at the tip, micrognathia, and relatively broad metatarsals and phalanges. Both showed severe psychomotor retardation. The metopic sutu... | TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET | c1848743 | 30,207 | omim | https://www.omim.org/entry/275595 | 2019-09-22T16:21:29 | {"mesh": ["C564759"], "omim": ["275595"], "orphanet": ["3368"]} |
Familial Amyloidosis, Finnish Type
Other namesGelsolin amyloidosis
This condition is inherited in an autosomal dominant manner
Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an amyloid condition with a number of associated cutaneous and n... | Familial Amyloidosis, Finnish Type | c0936273 | 30,208 | wikipedia | https://en.wikipedia.org/wiki/Familial_Amyloidosis,_Finnish_Type | 2021-01-18T19:04:43 | {"mesh": ["D028227"], "umls": ["C0936273"], "orphanet": ["85448"], "wikidata": ["Q4064296"]} |
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is caused by heterozygous mutation in the HK1 gene (142600) on chromosome 10q22.
Description
Neurodevelopmental disorder with visual defects and brain anomalies (NEDVI... | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES | None | 30,209 | omim | https://www.omim.org/entry/618547 | 2019-09-22T15:41:31 | {"omim": ["618547"]} |
Orthostatic hypotension is a drop in blood pressure that occurs when moving from a laying down (supine) position to a standing (upright) position. The word "orthostasis" means to stand up, so the condition is defined as low blood pressure (hypotension) that occurs upon standing.
When standing up, gravity moves blood... | Orthostatic hypotension | c0020651 | 30,210 | medlineplus | https://medlineplus.gov/genetics/condition/orthostatic-hypotension/ | 2021-01-27T08:24:52 | {"gard": ["12959"], "mesh": ["D007024"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) is caused by homozygous or compound heterozygous mutation in the NSMCE3 gene (608243) on chromosome 15q13.
Description
LICS is an autosomal recessive chromosome breakage syndrom... | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME | c4310653 | 30,211 | omim | https://www.omim.org/entry/617241 | 2019-09-22T15:46:23 | {"omim": ["617241"]} |
Dipygus
Myrtle Corbin, a famous dipygus.
SymptomsBody axis forks left and right partway along the torso with the posterior end (pelvis and legs) duplicated
CausesCongenital deformity
This article needs additional citations for verification. Please help improve this article by adding citations to reliable s... | Dipygus | c0266688 | 30,212 | wikipedia | https://en.wikipedia.org/wiki/Dipygus | 2021-01-18T18:46:52 | {"gard": ["1164"], "mesh": ["C564315"], "umls": ["C0266688"], "orphanet": ["1756"], "wikidata": ["Q5280135"]} |
A number sign (#) is used with this entry because of evidence that osteoglophonic dysplasia (OGD) is caused by heterozygous mutation in the gene encoding fibroblast growth factor receptor-1 (FGFR1; 136350) on chromosome 8p11.
Clinical Features
Beighton et al. (1980) described a seemingly 'new' form of dwarfism ... | OSTEOGLOPHONIC DYSPLASIA | c0432283 | 30,213 | omim | https://www.omim.org/entry/166250 | 2019-09-22T16:37:01 | {"mesh": ["C536050"], "omim": ["166250"], "orphanet": ["2645"], "synonyms": ["Alternative titles", "OSTEOGLOPHONIC DWARFISM"]} |
Giant-cell fibroma is a type of fibroma not associated with trauma or irritation. It can occur at any age and on a mucous membrane surface. The most common oral locations are on the gingiva of the mandible, tongue, and palate. It is a localized reactive proliferation of fibrous connective tissue.
Giant-cell fibroma ... | Giant-cell fibroma | None | 30,214 | wikipedia | https://en.wikipedia.org/wiki/Giant-cell_fibroma | 2021-01-18T18:45:24 | {"wikidata": ["Q5558339"]} |
A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the ti... | Congenital pseudoarthrosis of the fibula | None | 30,215 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295022 | 2021-01-23T17:01:21 | {"icd-10": ["Q74.2"], "synonyms": ["Congenital pseudarthrosis of the fibula"]} |
## Summary
### Clinical characteristics.
Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abduc... | Duane Syndrome | c0013261 | 30,216 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1190/ | 2021-01-18T21:30:00 | {"mesh": ["D004370"], "synonyms": ["Duane Anomaly", "Isolated; Duane Retraction Syndrome; Stilling-Turk-Duane Syndrome"]} |
Ketotic hypoglycemia is a medical term used in two ways: (1) broadly, to refer to any circumstance in which low blood glucose is accompanied by ketosis, and (2) in a much more restrictive way to refer to recurrent episodes of hypoglycemic symptoms with ketosis and, often, vomiting, in young children. The first usage ... | Ketotic hypoglycemia | c0271713 | 30,217 | wikipedia | https://en.wikipedia.org/wiki/Ketotic_hypoglycemia | 2021-01-18T19:01:05 | {"wikidata": ["Q1403928"]} |
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
## Epidemiology
The prevalence rate is pr... | Propionic acidemia | c0268579 | 30,218 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35 | 2021-01-23T18:29:48 | {"gard": ["467"], "mesh": ["D056693"], "omim": ["606054"], "umls": ["C0268579", "C0311298", "C2717876"], "icd-10": ["E71.1"], "synonyms": ["Ketotic hyperglycinemia", "Propionic aciduria", "Propionyl-CoA carboxylase deficiency"]} |
CHD2 myoclonic encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 months and 4 years. Each individual may experience a variety of seizure types. The most common are ... | CHD2 myoclonic encephalopathy | c3809278 | 30,219 | medlineplus | https://medlineplus.gov/genetics/condition/chd2-myoclonic-encephalopathy/ | 2021-01-27T08:24:49 | {"omim": ["615369"], "synonyms": []} |
Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynosto... | Gómez-López-Hernández syndrome | c0795959 | 30,220 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1532 | 2021-01-23T18:21:36 | {"gard": ["1586", "229"], "mesh": ["C537285"], "omim": ["601853"], "umls": ["C0795959"], "icd-10": ["Q07.8"], "synonyms": ["Cerebellotrigeminal-dermal dysplasia syndrome", "Craniosynostosis-alopecia-brain defect syndrome"]} |
By the study of mouse-human lymphocyte hybrids, Nikinmaa et al. (1983) assigned to chromosome 11 the gene for a cell surface glycoprotein recognized by a mouse monoclonal antibody, Mab4. The antigen is present on all human peripheral blood leukocytes on human fibroblasts and on human lymphoid and erythroid cell lines... | SURFACE ANTIGEN, GLYCOPROTEIN 75 | c1861423 | 30,221 | omim | https://www.omim.org/entry/185540 | 2019-09-22T16:34:03 | {"omim": ["185540"], "synonyms": ["Alternative titles", "SURFACE GLYCOPROTEIN 75"]} |
A number sign (#) is used with this entry because combined oxidative phosphorylation deficiency-7 (COXPD7) is caused by homozygous mutation in the C12ORF65 gene (613541) on chromosome 12q24.
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Clinical Fea... | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 | c3150801 | 30,222 | omim | https://www.omim.org/entry/613559 | 2019-09-22T15:58:17 | {"doid": ["0060286"], "omim": ["613559"], "orphanet": ["254930"], "synonyms": ["COXPD7", "Severe C12ORF65-related COXPD", "Severe C12ORF65-related combined oxidative phosphorylation defect"]} |
Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism i... | Craniosynostosis-dental anomalies | c3280073 | 30,223 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284149 | 2021-01-23T18:23:10 | {"omim": ["614188"], "icd-10": ["Q87.0"], "synonyms": ["Kreiborg-Pakistani syndrome"]} |
A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-4 (HNPCC4) is caused by heterozygous mutation in the PMS2 gene (600259) on chromosome 7p22.
Clinical Features
Nicolaides et al. (1994) identified a germline deletion in the PMS2 gene in a patient with a family history of HNP... | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 | c1333990 | 30,224 | omim | https://www.omim.org/entry/614337 | 2019-09-22T15:55:39 | {"doid": ["0070275"], "mesh": ["D003123"], "omim": ["614337"], "orphanet": ["144"]} |
A number sign (#) is used with this entry because nephrotic syndrome type 9 (NPHS9) is caused by homozygous or compound heterozygous mutation in the ADCK4 gene (COQ8B; 615567) on chromosome 19q13.
Description
Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by signif... | NEPHROTIC SYNDROME, TYPE 9 | c1868672 | 30,225 | omim | https://www.omim.org/entry/615573 | 2019-09-22T15:51:37 | {"doid": ["0080391"], "mesh": ["C536404"], "omim": ["615573"], "orphanet": ["656"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-101 (DFNB101) is caused by homozygous mutation in the GRXCR2 gene (615762) on chromosome 5q32. One such family has been reported.
Clinical Features
Imtiaz et al. (2014) reported 3 sibs, born of consanguineous Pakistani p... | DEAFNESS, AUTOSOMAL RECESSIVE 101 | c3892049 | 30,226 | omim | https://www.omim.org/entry/615837 | 2019-09-22T15:50:51 | {"doid": ["0110462"], "omim": ["615837"], "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"]} |
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in clas... | Isolated lissencephaly type 1 without known genetic defects | None | 30,227 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1084 | 2021-01-23T17:21:31 | {"icd-10": ["Q04.3"]} |
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: "Drug-induced pigmentation" – news · newspapers · books · scholar · JSTOR (September 2018) (Learn how and when to remove... | Drug-induced pigmentation | c0406698 | 30,228 | wikipedia | https://en.wikipedia.org/wiki/Drug-induced_pigmentation | 2021-01-18T18:43:17 | {"umls": ["C0406698"], "wikidata": ["Q5308816"]} |
Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpit... | Ectasia of the right atrial appendage | None | 30,229 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99101 | 2021-01-23T18:57:44 | {"icd-10": ["Q20.8"], "synonyms": ["Dilatation of the right atrial appendage", "Dilatation of the right atrial auricle", "Ectasia of the right atrial auricle"]} |
A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and us... | Parenteral nutrition-associated cholestasis | None | 30,230 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=567983 | 2021-01-23T17:55:02 | {"synonyms": ["PNAC"]} |
## Summary
### Clinical characteristics.
KCNQ3-related disorders include benign familial neonatal epilepsy (BFNE) and benign familial infantile epilepsy (BFIE), seizure disorders that occur in children who typically have normal psychomotor development. An additional KCNQ3-related disorder involves developmental dis... | KCNQ3-Related Disorders | None | 30,231 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK201978/ | 2021-01-18T21:16:39 | {"synonyms": []} |
A number sign (#) is used with this entry because of evidence that nongoitrous congenital hypothyroidism-6 (CHNG6) is caused by heterozygous mutation in the THRA gene (190120) on chromosome 17q21.
For a general phenotypic description and a discussion of genetic heterogeneity of congenital nongoitrous hypothyroidism,... | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 | c3280817 | 30,232 | omim | https://www.omim.org/entry/614450 | 2019-09-22T15:55:12 | {"doid": ["0070128"], "omim": ["614450"], "orphanet": ["97927"], "synonyms": []} |
Metabolic acidosis
The level of bicarbonate in the blood (HCO3-) determines the severity of acidosis. Bicarbonate measurements are part of routine metabolic panels.
SpecialtyNephrology
ComplicationsAcute: poor morbidity and mortality outcomes;
Chronic: adverse outcomes on kidney function, musculoskeletal syst... | Metabolic acidosis | c0220981 | 30,233 | wikipedia | https://en.wikipedia.org/wiki/Metabolic_acidosis | 2021-01-18T18:47:21 | {"mesh": ["D000138"], "icd-9": ["276.2"], "icd-10": ["E87.2"], "wikidata": ["Q1598200"]} |
A number sign (#) is used with this entry because primary ciliary dyskinesia-9 (CILD9) can be caused by homozygous mutation in the DNAI2 gene (605483) on chromosome 17q25.
For a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400)... | CILIARY DYSKINESIA, PRIMARY, 9 | c2676235 | 30,234 | omim | https://www.omim.org/entry/612444 | 2019-09-22T16:01:30 | {"doid": ["0110622"], "mesh": ["C567310"], "omim": ["612444", "244400"], "orphanet": ["244"], "synonyms": ["Alternative titles", "CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS", "PCD"], "genereviews": ["NBK1122"]} |
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: "Overriding aorta" – news · newspapers · bo... | Overriding aorta | c0265886 | 30,235 | wikipedia | https://en.wikipedia.org/wiki/Overriding_aorta | 2021-01-18T18:49:12 | {"icd-9": ["747.21"], "icd-10": ["Q25.4"], "wikidata": ["Q2142075"]} |
Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symp... | Glucagonoma | c0017689 | 30,236 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97280 | 2021-01-23T18:36:01 | {"gard": ["2496", "9399"], "mesh": ["D005935"], "umls": ["C0017689"], "icd-10": ["E16.8"], "synonyms": ["Glucagonoma syndrome"]} |
Erythrocyanosis crurum
SpecialtyDermatology
Erythrocyanosis crurum is a skin condition, a variant of acrocyanosis caused by chronic exposure to cold.
## See also[edit]
* Chilblains
* List of cutaneous conditions
## References[edit]
* Otto Braun-Falco; G. Plewig; H. H. Wolff; Walter H. C. Burgdorf (20... | Erythrocyanosis crurum | c0264946 | 30,237 | wikipedia | https://en.wikipedia.org/wiki/Erythrocyanosis_crurum | 2021-01-18T18:43:38 | {"umls": ["C0264946"], "icd-10": ["I73.8"], "wikidata": ["Q5396458"]} |
A number sign (#) is used with this entry because Waardenburg syndrome type 1 (WS1) is caused by heterozygous mutation in the PAX3 gene (606597) on chromosome 2q36.
Waardenburg syndrome type 3 (WS3; 148820) is also caused by mutation in the PAX3 gene.
Description
Waardenburg syndrome type 1 is an autosomal dom... | WAARDENBURG SYNDROME, TYPE 1 | c3266898 | 30,238 | omim | https://www.omim.org/entry/193500 | 2019-09-22T16:31:57 | {"doid": ["0110948"], "mesh": ["D014849"], "omim": ["193500"], "orphanet": ["3440", "894"], "synonyms": ["Alternative titles", "WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM"], "genereviews": ["NBK1531"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced (herpes-specific) encephalopathy-7 (IIAE7) is caused by heterozygous mutation in the IRF3 gene (603734) on chromosome 19q13.
For a phenotypic description of herpes simplex encephalitis (HSE) and a discussion ... | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 | c0276226 | 30,239 | omim | https://www.omim.org/entry/616532 | 2019-09-22T15:48:37 | {"mesh": ["D020803"], "omim": ["616532"], "orphanet": ["1930"], "synonyms": ["Alternative titles", "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 5"]} |
Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
*[v]: View this te... | Spinocerebellar ataxia type 41 | c4225158 | 30,240 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=458798 | 2021-01-23T17:28:46 | {"omim": ["616410"], "icd-10": ["G11.2"], "synonyms": ["SCA41"]} |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. Affected ... | Fragile X-associated tremor/ataxia syndrome | c1839780 | 30,241 | medlineplus | https://medlineplus.gov/genetics/condition/fragile-x-associated-tremor-ataxia-syndrome/ | 2021-01-27T08:24:46 | {"mesh": ["C564105"], "omim": ["300623"], "synonyms": []} |
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.
## Epidemiology
Only four cases have been reported in the literature, in three unrelated families.
## Clinical description
Dysmorphic... | Kapur-Toriello syndrome | c0796005 | 30,242 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2328 | 2021-01-23T18:38:08 | {"gard": ["3078"], "mesh": ["C537008"], "omim": ["244300"], "umls": ["C0796005"], "icd-10": ["Q87.8"], "synonyms": ["Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome"]} |
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. (June 2019) (Learn how and when to remove this template message)
This article is an orphan, ... | HIDEA syndrome | None | 30,243 | wikipedia | https://en.wikipedia.org/wiki/HIDEA_syndrome | 2021-01-18T18:51:39 | {"umls": ["CL1371252"], "wikidata": ["Q65063382"]} |
Mouth and genital ulcers with inflamed cartilage syndrome
Other namesMAGIC syndrome
SpecialtyDermatology
Mouth and genital ulcers with inflamed cartilage syndrome (also known as "MAGIC syndrome") is a cutaneous condition with features of both Behçet's disease and relapsing polychondritis.[1][2] Recently ... | Mouth and genital ulcers with inflamed cartilage syndrome | c0406568 | 30,244 | wikipedia | https://en.wikipedia.org/wiki/Mouth_and_genital_ulcers_with_inflamed_cartilage_syndrome | 2021-01-18T18:34:10 | {"gard": ["13371"], "orphanet": ["324972"], "synonyms": ["Mouth and genital ulcers-inflamed cartilage syndrome"], "wikidata": ["Q16937724"]} |
A number sign (#) is used with this entry because cystic leukoencephalopathy without megalencephaly is caused by homozygous or compound heterozygous mutation in the RNASET2 gene (612944) on chromosome 6q27.
Cystic leukoencephalopathy with megalencephaly (604004) is a clinically and genetically distinct disorder.... | LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY | c2751843 | 30,245 | omim | https://www.omim.org/entry/612951 | 2019-09-22T16:00:12 | {"mesh": ["C567845"], "omim": ["612951"], "orphanet": ["85136"]} |
Connective tissue nevus
Other namesCollagenoma, Elastoma, and Shagreen patch[1]
Storiform collagenoma, H&E stain
SpecialtyDermatology
A connective tissue nevus may be present at birth or appear within the first few years, is elevated, soft to firm, varying from 0.5 to several centimeters in diameter, and m... | Connective tissue nevus | c0334083 | 30,246 | wikipedia | https://en.wikipedia.org/wiki/Connective_tissue_nevus | 2021-01-18T18:31:53 | {"mesh": ["C562737"], "umls": ["C0334083", "C0265978"], "wikidata": ["Q5161704"]} |
A number sign (#) is used with this entry because of evidence that type I xanthinuria (XAN1) is caused by homozygous or compound heterozygous mutation in the gene encoding xanthine dehydrogenase (XDH; 607633) on chromosome 2p23.
Description
Xanthinuria, which was first described by Dent and Philpot (1954), is c... | XANTHINURIA, TYPE I | c0268118 | 30,247 | omim | https://www.omim.org/entry/278300 | 2019-09-22T16:21:09 | {"doid": ["0060236"], "mesh": ["C562584"], "omim": ["278300"], "orphanet": ["3467", "93601"], "synonyms": ["Xanthic urolithiasis", "XANTHINE DEHYDROGENASE DEFICIENCY", "Alternative titles", "Xanthine stone disease", "Classic xanthinuria", "XDH DEFICIENCY", "XANTHINE OXIDASE DEFICIENCY"]} |
Kamm et al. (1991) described a family in which at least 1 member in each of 5 successive generations had severe proctalgia fugax beginning in the third to fifth decades of life. They studied in detail 3 members of the family demonstrating a 'new' myopathy of the internal anal sphincter. Each affected member had sever... | ANAL SPHINCTER MYOPATHY, INTERNAL | c1862935 | 30,248 | omim | https://www.omim.org/entry/105565 | 2019-09-22T16:45:12 | {"mesh": ["C566287"], "omim": ["105565"], "synonyms": ["Alternative titles", "PROCTALGIA FUGAX DUE TO ANAL SPHINCTER MYOPATHY"]} |
A number sign (#) is used with this entry because of evidence that Pelger-Huet anomaly with mild skeletal anomalies (PHASK) is caused by homozygous or compound heterozygous mutation in the LBR gene (600024) on chromosome 1q42.
Homozygous mutation in the LBR gene can also cause Greenberg dysplasia (215140), a lethal ... | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | None | 30,249 | omim | https://www.omim.org/entry/618019 | 2019-09-22T15:43:54 | {"omim": ["618019"], "orphanet": ["448267"], "synonyms": ["Alternative titles", "REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA"]} |
## Clinical Features
Swanson and Brown (1962) described a family in which 30 persons in 5 generations had 5 triphalangeal digits of each hand and apparently lacked a true thumb. The 'thumb' could not be opposed. No associated internal malformations were detected. Triphalangeal thumb of this type occurs in some case... | TRIPHALANGEAL THUMB, NONOPPOSABLE | c2931238 | 30,250 | omim | https://www.omim.org/entry/190600 | 2019-09-22T16:32:16 | {"mesh": ["C536562"], "omim": ["190600"]} |
A number sign (#) is used with this entry because of evidence that a skeletal malformation with features overlapping those of brachydactyly types E and D (BDD; 113200) is caused by heterozygous mutation in the HOXD13 gene (142989) on chromosome 2q31.
Another form of brachydactyly type E, BDE2 (613382), is caused by ... | BRACHYDACTYLY, TYPE E1 | c0265312 | 30,251 | omim | https://www.omim.org/entry/113300 | 2019-09-22T16:44:08 | {"doid": ["0110972"], "omim": ["113300"], "orphanet": ["93387"], "synonyms": ["Alternative titles", "BRACHYDACTYLY, TYPE E"]} |
Papular mucinosis of infancy
Other namesCutaneous mucinosis of infancy
SpecialtyDermatology
Papular mucinosis of infancy is a skin condition caused by fibroblasts producing abnormally large amounts of mucopolysaccharides, characterized by skin-colored or translucent papules.[1]:186[2]
## See also[edit]
*... | Papular mucinosis of infancy | c4273966 | 30,252 | wikipedia | https://en.wikipedia.org/wiki/Papular_mucinosis_of_infancy | 2021-01-18T18:29:03 | {"orphanet": ["90395"], "synonyms": ["Cutaneous mucinosis of infancy"], "wikidata": ["Q7133225"]} |
Hydroxyprolinemia is an inherited metabolic condition characterized by elevated levels of the amino acid hydroxyproline in the blood and urine. This condition usually does not cause physical or cognitive abnormalities. Hydroxyprolinemia was initially described in association with intellectual disabilities; howeve... | Hydroxyprolinemia | c0268531 | 30,253 | gard | https://rarediseases.info.nih.gov/diseases/10717/hydroxyprolinemia | 2021-01-18T17:59:56 | {"mesh": ["C562669"], "omim": ["237000"], "umls": ["C0268531"], "synonyms": ["4-hydroxy-L-proline oxidase deficiency", "4 alpha hydroxy-L-proline oxidase deficiency"]} |
A number sign (#) is used with this entry because of evidence that ventricular septal defect-3 (VSD3) is caused by heterozygous mutation in the NKX2-5 gene (600584) on chromosome 5q35.
Description
Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% o... | VENTRICULAR SEPTAL DEFECT 3 | c3280785 | 30,254 | omim | https://www.omim.org/entry/614432 | 2019-09-22T15:55:19 | {"omim": ["614432"]} |
A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of ot... | Isolated asymptomatic elevation of creatine phosphokinase | None | 30,255 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206599 | 2021-01-23T18:25:20 | {"synonyms": ["Idiopathic asymptomatic hyperCKemia", "Isolated asymptomatic hyperCKemia"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (April 2014)
Ametropic amblyopia
Human eye anatomy(retina)
SpecialtyNeurology
Ametropic amblyopia, is a medical condition in which the retina can... | Ametropic amblyopia | c0152190 | 30,256 | wikipedia | https://en.wikipedia.org/wiki/Ametropic_amblyopia | 2021-01-18T18:46:28 | {"umls": ["C0152190"], "wikidata": ["Q16002876"]} |
A number sign (#) is used with this entry because of evidence that Charcot-Marie-Tooth disease type 2W (CMT2W) is caused by heterozygous mutation in the HARS gene (HARS1; 142810) on chromosome 5q31.
Description
Charcot-Marie-Tooth disease type 2W is an autosomal dominant neurologic disorder characterized by a p... | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W | c4225265 | 30,257 | omim | https://www.omim.org/entry/616625 | 2019-09-22T15:48:23 | {"doid": ["0110162"], "omim": ["616625"], "orphanet": ["488333"], "synonyms": ["CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation", "CMT2W", "Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W"]} |
## Description
PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental def... | PHACE ASSOCIATION | c1847874 | 30,258 | omim | https://www.omim.org/entry/606519 | 2019-09-22T16:10:22 | {"mesh": ["C537892"], "omim": ["606519"], "orphanet": ["42775"], "synonyms": ["Alternative titles", "PHACES ASSOCIATION", "AORTIC ANEURYSM, GIANT CONGENITAL"]} |
A number sign (#) is used with this entry because of evidence that spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is caused by heterozygous mutation in the KIDINS220 gene (615759) on chromosome 2p25.
Description
Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) i... | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY | c4284592 | 30,259 | omim | https://www.omim.org/entry/617296 | 2019-09-22T15:46:10 | {"omim": ["617296"], "orphanet": ["521390"], "synonyms": ["SINO syndrome"]} |
A number sign (#) is used with this entry because of evidence that central core disease (CCD) and its variants can be caused by heterozygous, homozygous, or compound heterozygous mutation in the ryanodine receptor-1 gene (RYR1; 180901) on chromosome 19q13.
Biallelic mutation in the RYR1 gene can also cause minicore ... | CENTRAL CORE DISEASE OF MUSCLE | c0751951 | 30,260 | omim | https://www.omim.org/entry/117000 | 2019-09-22T16:43:33 | {"doid": ["3529"], "mesh": ["D020512"], "omim": ["117000"], "icd-10": ["G71.2"], "orphanet": ["597", "598", "178145"], "synonyms": ["Alternative titles", "CCO"], "genereviews": ["NBK1391"]} |
## Description
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism... | ASTIGMATISM | c0004106 | 30,261 | omim | https://www.omim.org/entry/603047 | 2019-09-22T16:13:20 | {"doid": ["11782"], "mesh": ["D001251"], "omim": ["603047"], "icd-9": ["367.2", "367.20"], "icd-10": ["H52.2", "H52.20"]} |
Disease affecting a small percentage of the population
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments ... | Rare disease | c0678236 | 30,262 | wikipedia | https://en.wikipedia.org/wiki/Rare_disease | 2021-01-18T18:54:47 | {"mesh": ["D035583"], "umls": ["C0678236"], "orphanet": ["377794"], "wikidata": ["Q929833"]} |
Cloacal exstrophy
Other namesOmphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome
SpecialtyMedical genetics
Complicationslimb deformities, open neural tube defects [1]
TreatmentSurgical intervention
Cloacal exstrophy (EC) is a severe birth defect wherein much of the abdominal organs ... | Cloacal exstrophy | c0345217 | 30,263 | wikipedia | https://en.wikipedia.org/wiki/Cloacal_exstrophy | 2021-01-18T18:43:03 | {"orphanet": ["93929"], "wikidata": ["Q5134736"]} |
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: "Neu–Laxova syndrome" – news · newspapers · books · scholar · JSTOR (December 2018) (Learn how and when to remove th... | Neu–Laxova syndrome | c0265218 | 30,264 | wikipedia | https://en.wikipedia.org/wiki/Neu%E2%80%93Laxova_syndrome | 2021-01-18T18:40:10 | {"gard": ["102"], "mesh": ["C536405"], "umls": ["C0265218"], "orphanet": ["2671"], "wikidata": ["Q667681"]} |
## Summary
### Clinical characteristics.
Most infants with short-chain acyl-CoA dehydrogenase deficiency (SCADD) identified through newborn screening programs have remained well, and asymptomatic relatives who meet diagnostic criteria are reported. Thus, SCADD is now viewed as a biochemical phenotype rather tha... | Short-Chain Acyl-CoA Dehydrogenase Deficiency | c0342783 | 30,265 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK63582/ | 2021-01-18T20:57:08 | {"mesh": ["C537596"], "synonyms": ["SCADD", "SCAD Deficiency"]} |
Trochleitis is the swelling of structures in the eye that help control eye movement, specifically the oblique tendon and surrounding tissues. Trochleitis may be isolated (occur alone or with migraine) or develop in association with an inflammatory condition, such as lupus or arthritis. Signs and symptoms include achi... | Trochleitis | None | 30,266 | gard | https://rarediseases.info.nih.gov/diseases/12113/trochleitis | 2021-01-18T17:57:16 | {"synonyms": ["trochleodynia"]} |
Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in as... | Immunodeficiency due to CD25 deficiency | c1853392 | 30,267 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169100 | 2021-01-23T17:59:13 | {"mesh": ["C565232"], "omim": ["606367"], "icd-10": ["D81.2"], "synonyms": ["Interleukin-2 receptor alpha chain deficiency"]} |
## Summary
### Clinical characteristics.
Optic atrophy type 1 (OPA1, or Kjer type optic atrophy) is characterized by bilateral and symmetric optic nerve pallor associated with insidious decrease in visual acuity (usually between ages 4 and 6 years), visual field defects, and color vision defects. Visual impairment ... | Optic Atrophy Type 1 | c0338508 | 30,268 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1248/ | 2021-01-18T21:06:33 | {"mesh": ["D029241"], "synonyms": []} |
A number sign (#) is used with this entry because this form of limb-girdle muscular dystrophy-dystroglycanopathy (type C7; MDDGC7), also known as LGMDR20 and LGMD2U, is caused by homozygous mutation in the ISPD gene (614631) on chromosome 7p21. ISPD encodes an isoprenoid synthase domain-containing protein.
Mutation ... | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | c4015095 | 30,269 | omim | https://www.omim.org/entry/616052 | 2019-09-22T15:50:02 | {"doid": ["0110295"], "omim": ["616052"], "orphanet": ["352479"], "synonyms": ["LGMD2U", "Alternative titles", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 20", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U", "Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency"]} |
Necrotising hepatopancreatitis (NHP), is also known as Texas necrotizing hepatopancreatitis (TNHP), Texas Pond Mortality Syndrome (TPMS) and Peru necrotizing hepatopancreatitis (PNHP),[1] is a lethal epizootic disease of farmed shrimp. It is not very well researched yet, but generally assumed to be caused by a bacter... | Necrotising hepatopancreatitis | None | 30,270 | wikipedia | https://en.wikipedia.org/wiki/Necrotising_hepatopancreatitis | 2021-01-18T18:57:15 | {"wikidata": ["Q3144984"]} |
A number sign (#) is used with this entry because of evidence that Abruzzo-Erickson syndrome (ABERS) is caused by mutation in the TBX22 gene (300307) on chromosome Xq21. One such family has been reported.
Clinical Features
Abruzzo and Erickson (1977) reported an apparently 'new' syndrome of cleft palate, colobo... | ABRUZZO-ERICKSON SYNDROME | c1844862 | 30,271 | omim | https://www.omim.org/entry/302905 | 2019-09-22T16:18:41 | {"mesh": ["C535559"], "omim": ["302905"], "orphanet": ["921"], "synonyms": ["Alternative titles", "CHARGE-LIKE SYNDROME, X-LINKED"]} |
A number sign (#) is used with this entry because it represents a contiguous gene syndrome caused by deletion of chromosome 17p13.1
Clinical Features
Krepischi-Santos et al. (2009) reported a girl from the United Kingdom and 3 Brazilian boys, who were each found to have a microdeletion within or spanning chromosome... | CHROMOSOME 17p13.1 DELETION SYNDROME | c3151069 | 30,272 | omim | https://www.omim.org/entry/613776 | 2019-09-22T15:57:33 | {"omim": ["613776"]} |
Tuberculous cellulitis
SpecialtyDermatology
Tuberculous cellulitis is a skin condition resulting from infection with mycobacterium, and presenting as cellulitis.[1]:336
## See also[edit]
* Lupus vulgaris
* Metastatic tuberculous abscess or ulceration
* Miliary tuberculosis
* Skin lesion
## Reference... | Tuberculous cellulitis | None | 30,273 | wikipedia | https://en.wikipedia.org/wiki/Tuberculous_cellulitis | 2021-01-18T19:03:26 | {"wikidata": ["Q7850851"]} |
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.
## Epidemiology
The syndrome has been desc... | Brain calcification, Rajab type | c3150910 | 30,274 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178506 | 2021-01-23T18:37:25 | {"omim": ["613658"]} |
Osteoma
Osteoma of external auditory meatus
SpecialtyOncology
An osteoma (plural: "osteomata") is a new piece of bone usually growing on another piece of bone, typically the skull. It is a benign tumor.
When the bone tumor grows on other bone it is known as "homoplastic osteoma"; when it grows on other tiss... | Osteoma | c0029440 | 30,275 | wikipedia | https://en.wikipedia.org/wiki/Osteoma | 2021-01-18T19:10:01 | {"mesh": ["D010016"], "umls": ["C0029440"], "icd-9": ["213.0"], "icd-10": ["C40"], "wikidata": ["Q1675957"]} |
Batten (1910) and later Turner (1949) and Turner and Lees (1962) provided 50 years' observations on a family in which 6 sibs presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy. The parents were not related.
Muscle \- Congenital myopathy Neuro \- Amyotonia con... | MYOPATHY, CONGENITAL | c0027127 | 30,276 | omim | https://www.omim.org/entry/255300 | 2019-09-22T16:24:33 | {"doid": ["0080100"], "mesh": ["D009224"], "omim": ["255300"], "icd-9": ["359.22"], "synonyms": ["Alternative titles", "BATTEN-TURNER CONGENITAL MYOPATHY"]} |
Vesicopustular dermatosis
SpecialtyDermatology
Vesicopustular dermatosis is a cutaneous condition characterized by neutrophils, and associated with bowel disorders.[1]
## See also[edit]
* Pyostomatitis vegetans
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean ... | Vesicopustular dermatosis | None | 30,277 | wikipedia | https://en.wikipedia.org/wiki/Vesicopustular_dermatosis | 2021-01-18T18:34:52 | {"wikidata": ["Q7923219"]} |
Steatocystoma simplex
Other namesSimple sebaceous duct cyst, solitary steatocystoma
Micrograph of a steatocystoma showing the characteristic corrugated eosinophilic lining. H&E stain
SpecialtyDermatology
Relative incidence of cutaneous cysts. Steatocystoma is labeled at right.
Steatocystoma simplex is... | Steatocystoma simplex | c1997005 | 30,278 | wikipedia | https://en.wikipedia.org/wiki/Steatocystoma_simplex | 2021-01-18T18:31:26 | {"wikidata": ["Q7605540"]} |
A number sign (#) is used with this entry because autosomal dominant erythrocytosis-6 (ECYT6) can be caused by heterozygous mutation in the beta globin gene (HBB; 141900) that results in a high oxygen affinity hemoglobin.
Description
Familial erythrocytosis-6 is characterized by an increased oxygen affinity of ... | ERYTHROCYTOSIS, FAMILIAL, 6 | c4693822 | 30,279 | omim | https://www.omim.org/entry/617980 | 2019-09-22T15:44:09 | {"omim": ["617980"], "synonyms": ["Alternative titles", "ERYTHROCYTOSIS, BETA-GLOBIN TYPE", "POLYCYTHEMIA, BETA-GLOBIN TYPE"]} |
Mental suffering among settlers of the North American plains.
Great Plains of Nebraska
Prairie madness or prairie fever was an affliction that affected settlers in the Great Plains during the migration to, and settlement of, the Canadian Prairies and the Western United States in the nineteenth century. Settlers mov... | Prairie madness | None | 30,280 | wikipedia | https://en.wikipedia.org/wiki/Prairie_madness | 2021-01-18T18:44:57 | {"wikidata": ["Q7238040"]} |
CASK-related disorders are a group of genetic disorders that affect brain development. The two main related disorders include microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability (XL-ID) with or without nystagmus. Males with these disorders usually have more severe symptom... | CASK-Related Disorders | c2677903 | 30,281 | gard | https://rarediseases.info.nih.gov/diseases/12670/cask-related-disorders | 2021-01-18T18:01:36 | {"mesh": ["C567466"], "omim": ["300749", "300422"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-3 (CSS3) is caused by heterozygous mutation in the SMARCB1 gene (601607) on chromosome 22q11. The SMARCB1 gene is one of several genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a ... | COFFIN-SIRIS SYNDROME 3 | c0265338 | 30,282 | omim | https://www.omim.org/entry/614608 | 2019-09-22T15:54:48 | {"doid": ["0070045"], "mesh": ["C536436"], "omim": ["614608"], "orphanet": ["1465"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 15"]} |
Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is aut... | Triphalangeal thumbs-brachyectrodactyly syndrome | c1860804 | 30,283 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2947 | 2021-01-23T18:49:29 | {"gard": ["5290"], "mesh": ["C536564"], "omim": ["190680"], "umls": ["C1860804"], "icd-10": ["Q74.8"], "synonyms": ["Carnevale-Hernández-del Castillo syndrome"]} |
Syndrome characterised by eye, central nervous system and skin malformations
Oculocerebrocutaneous syndrome
Other namesDelleman–Oorthuys syndrome[1]
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags... | Oculocerebrocutaneous syndrome | c0796092 | 30,284 | wikipedia | https://en.wikipedia.org/wiki/Oculocerebrocutaneous_syndrome | 2021-01-18T18:38:42 | {"gard": ["106"], "mesh": ["C538088"], "umls": ["C0796092"], "orphanet": ["1647"], "wikidata": ["Q7077152"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-7 (SCAR7) is caused by compound heterozygous mutation in the TPP1 gene (607998) on chromosome 11p15.
Biallelic mutation in the TPP1 gene can also cause neuronal ceroid lipofuscinosis-2 (CLN2; 204500).
D... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 | c1836474 | 30,285 | omim | https://www.omim.org/entry/609270 | 2019-09-22T16:06:20 | {"doid": ["0080059"], "mesh": ["C563753"], "omim": ["609270"], "orphanet": ["284324"]} |
This article does not deal with the more general topic of childhood arthritis.
Juvenile idiopathic arthritis
Other namesJuvenile rheumatoid arthritis
SpecialtyRheumatology
Frequency1 in 1,000[1]
Juvenile idiopathic arthritis (JIA), is the most common, chronic rheumatic disease of childhood, affecting appr... | Juvenile idiopathic arthritis | c0157917 | 30,286 | wikipedia | https://en.wikipedia.org/wiki/Juvenile_idiopathic_arthritis | 2021-01-18T18:46:13 | {"gard": ["3067"], "umls": ["C0157916", "C0157918", "C0409667", "C0157917"], "orphanet": ["92"], "wikidata": ["Q861224"]} |
Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.
## Epidemiology
Prevalence is unknown. The annual inci... | Foodborne botulism | c1739094 | 30,287 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228371 | 2021-01-23T18:11:15 | {"mesh": ["D001906"], "umls": ["C1739094"], "icd-10": ["A05.1"], "synonyms": ["Intoxication botulism"]} |
A number sign (#) is used with this entry because of evidence that Pelger-Huet anomaly (PHA) can be caused by heterozygous mutation in the gene encoding the lamin B receptor (LBR; 600024) on chromosome 1q42.
Homozygous mutation in the LBR gene can cause PHA with mild skeletal anomalies (PHASK; 618019) or Greenberg d... | PELGER-HUET ANOMALY | c0030779 | 30,288 | omim | https://www.omim.org/entry/169400 | 2019-09-22T16:36:30 | {"doid": ["9631"], "mesh": ["D010381"], "omim": ["169400"]} |
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
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 appropr... | Digital phobic | None | 30,289 | wikipedia | https://en.wikipedia.org/wiki/Digital_phobic | 2021-01-18T19:10:34 | {"wikidata": ["Q18206542"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa and erythrocytic microcytosis (RPEM) is caused by compound heterozygous mutation in the TRNT1 gene (612907) on chromosome 3p26.
Mutation in the TRNT1 gene also causes a more severe syndrome, consisting of sideroblastic anemia wit... | RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS | c4310776 | 30,290 | omim | https://www.omim.org/entry/616959 | 2019-09-22T15:47:26 | {"omim": ["616959"]} |
Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna and a bone i... | Langer mesomelic dysplasia | c0432230 | 30,291 | medlineplus | https://medlineplus.gov/genetics/condition/langer-mesomelic-dysplasia/ | 2021-01-27T08:25:09 | {"gard": ["3553"], "mesh": ["C537267"], "omim": ["249700"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that multiple self-healing palmoplantar carcinoma (MSPC) is caused by heterozygous mutation in the NLRP1 gene (606636) on chromosome 17p13.
Description
Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in ... | PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING | c3808876 | 30,292 | omim | https://www.omim.org/entry/615225 | 2019-09-22T15:52:58 | {"omim": ["615225"], "orphanet": ["352662"], "synonyms": ["Alternative titles", "CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, FORMERLY"]} |
Abortion in Chad was prohibited by law prior to December 2016, when the National Assembly of Chad passed an updated penal code decriminalising abortion under limited circumstances. Article 358 of that codestates that abortion is allowed in case of sexual assault, rape, incest or when the pregnancy endangers the menta... | Abortion in Chad | None | 30,293 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Chad | 2021-01-18T18:45:59 | {"wikidata": ["Q42417647"]} |
Acute coronary syndrome
Blockage of a coronary artery
SpecialtyCardiology
Acute coronary syndrome (ACS) is a syndrome (set of signs and symptoms) due to decreased blood flow in the coronary arteries such that part of the heart muscle is unable to function properly or dies.[1] The most common symptom is c... | Acute coronary syndrome | c0948089 | 30,294 | wikipedia | https://en.wikipedia.org/wiki/Acute_coronary_syndrome | 2021-01-18T18:28:02 | {"mesh": ["D054058"], "umls": ["C0948089"], "icd-10": ["I20.0"], "wikidata": ["Q266018"]} |
Long-term symptoms and/or sequelae of COVID-19
Part of a series on the
COVID-19 pandemic
* SARS-CoV-2 (virus)
* COVID-19 (disease)
Timeline
2019
2020
* January
* February
* responses
* March
* responses
* April
* responses
* May
* responses
* June
* response... | Long COVID | None | 30,295 | wikipedia | https://en.wikipedia.org/wiki/Long_COVID | 2021-01-18T18:51:55 | {"wikidata": ["Q100732653"]} |
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.
*[v]: View this template
*[t]: D... | Oculocutaneous albinism type 7 | c3808786 | 30,296 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352745 | 2021-01-23T18:27:50 | {"omim": ["615179"], "icd-10": ["E70.3"], "synonyms": ["OCA7"]} |
## Clinical Features
Van Steensel et al. (2001) described a 4-generation Dutch kindred with 27 individuals, 14 of whom were affected in a pattern that was consistent with autosomal dominant inheritance. The proposita was evaluated at 35 years of age and presented with unruly, brittle hair with premature hair loss, ... | CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME | c1843291 | 30,297 | omim | https://www.omim.org/entry/607656 | 2019-09-22T16:08:57 | {"mesh": ["C536220"], "omim": ["607656"], "orphanet": ["307766"], "synonyms": ["Alternative titles", "CHACS"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, and dysmorphic facial features (such as facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, and low-set, poster... | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | c4225416 | 30,298 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=480880 | 2021-01-23T19:11:45 | {"omim": ["300968"], "synonyms": ["X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"]} |
A number sign (#) is used with this entry because of evidence that hyperekplexia-2 (HKPX2) is caused by compound heterozygous or homozygous mutation in the GLRB gene (138492) on chromosome 4q32.
For a general phenotypic description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (149400).
Clin... | HYPEREKPLEXIA 2 | c1835614 | 30,299 | omim | https://www.omim.org/entry/614619 | 2019-09-22T15:54:48 | {"doid": ["0060697"], "mesh": ["C538136"], "omim": ["614619"], "orphanet": ["3197"], "genereviews": ["NBK1260"]} |
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