text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
values | source_url stringlengths 33 155 | retrieved_date timestamp[s] | classification_map stringlengths 2 1.45k |
|---|---|---|---|---|---|---|---|
High-grade serous carcinoma
Immunohistochemistry micrograph of androgen receptors on a HGSC tumour sample
High-grade serous carcinoma (HGSC) is a type of tumour that arises from the serous epithelial layer in the abdominopelvic cavity and is mainly found in the ovary. HGSCs make up the majority of ovarian ... | High-grade serous carcinoma | c3839280 | 8,000 | wikipedia | https://en.wikipedia.org/wiki/High-grade_serous_carcinoma | 2021-01-18T18:36:45 | {"umls": ["C3839280"], "wikidata": ["Q28134897"]} |
A number sign (#) is used with this entry because of evidence that one form of primary open angle glaucoma (POAG), designated GLC1A, is caused by heterozygous mutation in the MYOC gene (601652) on chromosome 1q.
Heterozygous mutations in the CYP1B1 gene (601771) may also contribute to the phenotype by digenic inheri... | GLAUCOMA 1, OPEN ANGLE, A | c2981140 | 8,001 | omim | https://www.omim.org/entry/137750 | 2019-09-22T16:40:43 | {"doid": ["1068", "1067"], "omim": ["137750"], "orphanet": ["98977"], "synonyms": ["Alternative titles", "GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1"]} |
Haemochromatosis type 4
Other namesFerroportin disease
SpecialtyHepatology, Medical genetics
CausesMutation in ferroportin gene
Differential diagnosisHereditary hemochromatosis
TreatmentPhlebotomy, Iron chelation
FrequencyRare
Hemochromatosis type 4, is a hereditary iron overload disorder that affect... | Hemochromatosis type 4 | c1853733 | 8,002 | wikipedia | https://en.wikipedia.org/wiki/Hemochromatosis_type_4 | 2021-01-18T19:11:02 | {"gard": ["10094"], "mesh": ["C537249"], "umls": ["C1853733"], "orphanet": ["139491"], "wikidata": ["Q28448698"]} |
Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling... | Rippling muscle disease with myasthenia gravis | None | 8,003 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206575 | 2021-01-23T18:49:03 | {"icd-10": ["G70.8"], "synonyms": ["Acquired rippling muscle disease", "Immune-mediated rippling muscle disease"]} |
Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.
## Epidemiology
Prevalence is estim... | Enlarged parietal foramina | c1868598 | 8,004 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=60015 | 2021-01-23T18:47:08 | {"mesh": ["C566826"], "omim": ["168500", "609566", "609597"], "umls": ["C1868598"], "icd-10": ["Q75.8"], "synonyms": ["Catlin marks", "Fenestrae parietales symmetricae", "Foramina parietalia permagna", "Hereditary cranium bifidum", "Symmetric parietal foramina"]} |
A number sign (#) is used with this entry because autosomal dominant tubular aggregate myopathy-1 (TAM1) is caused by heterozygous mutation in the STIM1 gene (605921) on chromosome 11p15.
Heterozygous mutation in the STIM1 gene can also cause Stormorken syndrome (STRMK; 185070), a similar disorder with additional fe... | MYOPATHY, TUBULAR AGGREGATE, 1 | c0410207 | 8,005 | omim | https://www.omim.org/entry/160565 | 2019-09-22T16:37:41 | {"doid": ["0080089"], "mesh": ["D020914"], "omim": ["160565"], "orphanet": ["2593"], "synonyms": ["Alternative titles", "MYOPATHY, TUBULAR AGGREGATE", "TUBULAR AGGREGATE MYOPATHY"]} |
Non-islet cell tumor hypoglycemia
SpecialtyOncology
Non-islet cell tumor hypoglycemia is a condition in which a tumor secretes hormones into the bloodstream that cause hypoglycemia. The is most commonly insulin-like growth factor 2, which stimulates insulin receptors to uptake glucose into cells.[1]
Many type... | Non-islet cell tumor hypoglycemia | None | 8,006 | wikipedia | https://en.wikipedia.org/wiki/Non-islet_cell_tumor_hypoglycemia | 2021-01-18T18:43:37 | {"wikidata": ["Q7049134"]} |
Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently wit... | Autosomal recessive spastic paraplegia type 43 | c2680446 | 8,007 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=320370 | 2021-01-23T17:01:52 | {"omim": ["615043"], "icd-10": ["G11.4"], "synonyms": ["SPG43"]} |
Trisomy 13 is a type of chromosome disorder characterized by having 3 copies of chromosome 13 in cells of the body, instead of the usual 2 copies. In some people, only a portion of cells contains the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal chromosome pair. Trisomy 13 cau... | Trisomy 13 | c2936830 | 8,008 | gard | https://rarediseases.info.nih.gov/diseases/7341/trisomy-13 | 2021-01-18T17:57:18 | {"mesh": ["D000073839"], "orphanet": ["3378"], "synonyms": ["Patau syndrome", "Chromosome 13, trisomy 13 complete", "Complete trisomy 13 syndrome", "D trisomy syndrome (formerly)"]} |
A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It i... | Acquired hypertrichosis lanuginosa | c0343072 | 8,009 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2221 | 2021-01-23T18:49:18 | {"gard": ["2864"], "icd-10": ["L68.1"]} |
For other uses, see Pneumonia (disambiguation).
Inflammation of the alveoli of the lungs
Pneumonia
Other namesPneumonitis
Chest X-ray of a pneumonia caused by influenza and Haemophilus influenzae, with patchy consolidations, mainly in the right upper lobe (arrow)
Pronunciation
* /njuːˈmoʊniə/ new-MOHN-ee-ə... | Pneumonia | c0032285 | 8,010 | wikipedia | https://en.wikipedia.org/wiki/Pneumonia | 2021-01-18T18:35:39 | {"mesh": ["D011014"], "umls": ["C0032285"], "icd-9": ["480", "484", "481", "770.0", "483", "482", "486", "485"], "icd-10": ["J12", "J16", "J13", "P23", "J15", "J14", "J18", "J17"], "wikidata": ["Q12192"]} |
A number sign (#) is used with this entry because this phenotype can be caused by homozygous mutation in the FOXN1 gene (600838) on chromosome 17q11-q12.
Clinical Features
Pignata et al. (1996) reported 2 sisters with an association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting... | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | c1866426 | 8,011 | omim | https://www.omim.org/entry/601705 | 2019-09-22T16:14:24 | {"doid": ["0060769"], "mesh": ["C536781"], "omim": ["601705"], "orphanet": ["169095"], "synonyms": ["FOXN1 deficiency", "Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome", "Winged helix deficiency"]} |
Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia... | Dissecting cellulitis of the scalp | c0263506 | 8,012 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=345 | 2021-01-23T18:20:06 | {"gard": ["1883"], "mesh": ["C562486"], "omim": ["260910"], "icd-10": ["L08.8"]} |
## Summary
### Clinical characteristics.
Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormalit... | Baller-Gerold Syndrome | c0265308 | 8,013 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1204/ | 2021-01-18T21:40:20 | {"mesh": ["C536788"], "synonyms": []} |
Epispadias
SpecialtyMedical genetics
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: "Epispadias" – news · newspapers · books · scholar · JSTOR (March 2013) (Lea... | Epispadias | c0563449 | 8,014 | wikipedia | https://en.wikipedia.org/wiki/Epispadias | 2021-01-18T19:05:10 | {"mesh": ["D004842"], "umls": ["C0563449", "C0014588"], "icd-9": ["752.62"], "icd-10": ["Q64.0"], "orphanet": ["93928"], "wikidata": ["Q1347416"]} |
Monoclonal mast cell activation syndrome (MMAS) is a rare immunological disorder characterized by recurrent episodes of allergy, flushing, stomach and intestinal cramping, diarrhea, wheezing, fatigue and a temporary loss of consciousness caused by a fall in blood pressure (hypotension). MMAS is very similar to sy... | Monoclonal mast cell activation syndrome | c4267893 | 8,015 | gard | https://rarediseases.info.nih.gov/diseases/12980/monoclonal-mast-cell-activation-syndrome | 2021-01-18T17:59:00 | {"icd-10": ["D89.41 "], "orphanet": ["529468"], "synonyms": ["MMAS", "Monoclonal MCAD"]} |
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Pulmonary carcinoid tumour" – news · newspapers · books · scholar · JSTOR (February 2014) (Learn how and when to remove this template mes... | Pulmonary carcinoid tumour | c0280089 | 8,016 | wikipedia | https://en.wikipedia.org/wiki/Pulmonary_carcinoid_tumour | 2021-01-18T19:02:35 | {"umls": ["C0280089"], "wikidata": ["Q16893452"]} |
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentia... | Cutis laxa | c0010495 | 8,017 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209 | 2021-01-23T16:55:09 | {"gard": ["6227"], "mesh": ["D003483"], "umls": ["C0010495"], "icd-10": ["Q82.8"]} |
Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair ... | Nablus mask-like facial syndrome | c1842464 | 8,018 | gard | https://rarediseases.info.nih.gov/diseases/4722/nablus-mask-like-facial-syndrome | 2021-01-18T17:58:48 | {"mesh": ["C536110"], "omim": ["608156"], "umls": ["C1842464"], "orphanet": ["178303"], "synonyms": ["8q22.1 microdeletion syndrome"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-9 (JBTS9) is caused by homozygous or compound heterozygous mutation in the CC2D2A gene (612013) on chromosome 4p15. Digenic inheritance has also been reported; see MOLECULAR GENETICS.
Meckel syndrome-6 (MKS6; 612284) is an allelic di... | JOUBERT SYNDROME 9 | c1855675 | 8,019 | omim | https://www.omim.org/entry/612285 | 2019-09-22T16:01:58 | {"doid": ["0111004"], "mesh": ["C537430"], "omim": ["612285"], "orphanet": ["2318"], "genereviews": ["NBK1325"]} |
Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
## Epidemiology
Forty-four patients have been reported to date.
## Clinical description
Coarse facial appearance include... | Zimmermann-Laband syndrome | c0796013 | 8,020 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3473 | 2021-01-23T18:39:06 | {"gard": ["385"], "mesh": ["C536725"], "omim": ["135500", "616455", "618658"], "umls": ["C0796013"], "icd-10": ["Q87.8"], "synonyms": ["Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome", "Laband syndrome"]} |
## Clinical Features
The DSM-IV (American Psychiatric Association, 1994) describes specific phobias, also known as simple phobias, as being characterized by a marked persistent, excessive, and unreasonable fear caused by the presence of a specific object or situation (e.g., flying, heights, animals, injections, blo... | PHOBIA, SPECIFIC | c0236801 | 8,021 | omim | https://www.omim.org/entry/608251 | 2019-09-22T16:07:59 | {"doid": ["599"], "mesh": ["C562465"], "omim": ["608251"], "icd-10": ["F40.2"], "synonyms": ["Alternative titles", "PHOBIA, SIMPLE"]} |
## Clinical Features
Golla et al. (2002) reported a family in which 4 males had mild to moderate nonspecific X-linked mental retardation, with no intellectual impairment in their obligate carrier mothers.
Mapping
By linkage analysis in a family in which 4 affected males had nonsyndromic mental retardation, Golla ... | MENTAL RETARDATION, X-LINKED 42 | c2931498 | 8,022 | omim | https://www.omim.org/entry/300372 | 2019-09-22T16:20:24 | {"doid": ["0050776"], "mesh": ["C567906"], "omim": ["300372"], "orphanet": ["777"]} |
Gestational diabetes is a disorder characterized by abnormally high blood sugar levels during pregnancy. Affected women do not have diabetes before they are pregnant, and most of these women go back to being nondiabetic soon after the baby is born. The disease has a 30 to 70 percent chance of recurring in subsequent ... | Gestational diabetes | c1833104 | 8,023 | medlineplus | https://medlineplus.gov/genetics/condition/gestational-diabetes/ | 2021-01-27T08:25:44 | {"mesh": ["C563425"], "omim": ["606176", "610374", "610582"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spastic paraplegia-9B (SPG9B) is caused by homozygous or compound heterozygous mutation in the ALDH18A1 gene (138250) on chromosome 10q24.
Heterozygous mutation in the ALDH18A1 gene can cause autosomal dominant spastic paraplegia-... | SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE | c4225272 | 8,024 | omim | https://www.omim.org/entry/616586 | 2019-09-22T15:48:25 | {"doid": ["0110825"], "omim": ["616586"], "orphanet": ["447760"], "synonyms": ["AR-SPG9B"]} |
Based on personal examination or history of 11 members of a Japanese family, Inoue et al. (1998) described a distinctive disorder characterized by facial, especially perioral, pigmented follicular atrophoderma, with numerous milia and epidermoid cysts. They suggested that the diagnosis could be made at a glance becau... | FOLLICULAR ATROPHODERMA, PERIORAL PIGMENTED, WITH MILIA AND EPIDERMOID CYSTS | c1863692 | 8,025 | omim | https://www.omim.org/entry/603587 | 2019-09-22T16:12:50 | {"mesh": ["C566360"], "omim": ["603587"]} |
Piglet with dipygus at Ukrainian National Chernobyl Museum in Kiev
Dysmelia (from Gr. δυσ- dys, "bad" + μέλ|ος mél|os, "limb" + Eng. suff. -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.[1]
## Contents
* 1 Types
* 2 Occurrence rate
* 3 Causes
* 4 Syndromes wit... | Dysmelia | c4073131 | 8,026 | wikipedia | https://en.wikipedia.org/wiki/Dysmelia | 2021-01-18T19:10:44 | {"umls": ["C4073131"], "wikidata": ["Q1269288"]} |
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second t... | Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome | None | 8,027 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369979 | 2021-01-23T18:20:38 | {"icd-10": ["Q87.2"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-12 (IMD12) is caused by homozygous mutation in the MALT1 gene (604860) on chromosome 18q21.
Clinical Features
Jabara et al. (2013) reported 2 sibs, born of consanguineous Lebanese parents, with a primary immunodeficiency characteriz... | IMMUNODEFICIENCY 12 | c3809583 | 8,028 | omim | https://www.omim.org/entry/615468 | 2019-09-22T15:51:59 | {"omim": ["615468"], "orphanet": ["397964"], "synonyms": []} |
A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehe... | Monosomy 22 | c0795878 | 8,029 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96123 | 2021-01-23T18:54:10 | {"icd-10": ["Q93.0"], "synonyms": ["Del(22)", "Deletion 22"]} |
Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic g... | Ruvalcaba syndrome | c0265248 | 8,030 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3121 | 2021-01-23T17:06:55 | {"gard": ["4748"], "mesh": ["C579395"], "omim": ["180870"], "umls": ["C0265248"], "icd-10": ["Q87.8"]} |
Rombo syndrome
Other namesVermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis
Rombo syndrome is inherited in an autosomal dominant manner[1]
Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma verm... | Rombo syndrome | c1867147 | 8,031 | wikipedia | https://en.wikipedia.org/wiki/Rombo_syndrome | 2021-01-18T18:41:33 | {"gard": ["4738"], "mesh": ["C535870"], "umls": ["C1867147"], "orphanet": ["3110"], "wikidata": ["Q7362935"]} |
15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attent... | 15q11.2 microdeletion syndrome | c3180937 | 8,032 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261183 | 2021-01-23T19:10:29 | {"gard": ["10525"], "mesh": ["C557830"], "omim": ["615656"], "umls": ["C3180937"], "icd-10": ["Q93.5"], "synonyms": ["15q11.2 BP1-BP2 microdeletion syndrome", "Del(15)(q11.2)", "Monosomy 15q11.2"]} |
## Summary
### Clinical characteristics.
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is characterized by: profound bilateral congenital sensorineural deafness associated with inner ear anomalies (most often bilateral complete labyrinthine aplasia); microtia (type I) that... | Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia | c1853144 | 8,033 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK100664/ | 2021-01-18T21:33:39 | {"mesh": ["C565195"], "synonyms": ["Congenital Deafness with Inner Ear Agenesis", "Microtia", "and Microdontia; LAMM Syndrome"]} |
A number sign (#) is used with this entry because of evidence that selective tooth agenesis-8 (STHAG8) is caused by heterozygous mutation in the WNT10B gene (601906) on chromosome 12q13.
For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 (106600).
... | TOOTH AGENESIS, SELECTIVE, 8 | c4310730 | 8,034 | omim | https://www.omim.org/entry/617073 | 2019-09-22T15:46:57 | {"omim": ["617073"], "orphanet": ["99798"], "synonyms": ["Selective tooth agenesis"]} |
A number sign (#) is used with this entry because Sandhoff disease is caused by mutation in the beta subunit of hexosaminidase (HEXB; 606873) on chromosome 5q13.
Description
Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, an... | SANDHOFF DISEASE | c0751489 | 8,035 | omim | https://www.omim.org/entry/268800 | 2019-09-22T16:22:31 | {"doid": ["3323"], "mesh": ["D012497"], "omim": ["268800"], "icd-10": ["E75.01"], "orphanet": ["309169", "309162", "796", "309155"], "synonyms": ["Alternative titles", "GM2-GANGLIOSIDOSIS, TYPE II", "HEXOSAMINIDASES A AND B DEFICIENCY"]} |
A number sign (#) is used with this entry because variants of the PHF11 gene (607796), located on chromosome 13, are related to serum level of IgE, which in turn is related to atopy, including asthma.
Polymorphism in the IL21R gene (605383) has been associated with elevated IgE levels. Polymorphisms in the PLA2G7 (6... | IgE RESPONSIVENESS, ATOPIC | c1840253 | 8,036 | omim | https://www.omim.org/entry/147050 | 2019-09-22T16:39:35 | {"mesh": ["C564133"], "omim": ["147050"], "synonyms": ["Alternative titles", "IMMUNOGLOBULIN E, BASIC LEVEL OF, IN SERUM", "IgE, LEVEL OF", "IgE RESPONSE UNDERLYING ALLERGIC ASTHMA AND RHINITIS"]} |
Scedosporiosis
SpecialtyInfectious disease
Scedosporiosis is an infection caused by fungi from the genus Scedosporium[1] which includes two hyphomycetes of emerging medical importance, Scedosporium apiospermum and Scedosporium prolificans.[2]
Pseudallescheria boydii is the teleomorph (sexual state) distinguis... | Scedosporiosis | None | 8,037 | wikipedia | https://en.wikipedia.org/wiki/Scedosporiosis | 2021-01-18T19:09:08 | {"orphanet": ["449280"], "synonyms": [], "wikidata": ["Q25098926"]} |
Trisomy 22
SpecialtyMedical genetics
Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 rather than two. It is a frequent cause of spontaneous abortion during the first trimester of pregnancy. Progression to the second trimester and live birth are rare. This disorder is f... | Trisomy 22 | c0265490 | 8,038 | wikipedia | https://en.wikipedia.org/wiki/Trisomy_22 | 2021-01-18T19:06:51 | {"gard": ["5335"], "mesh": ["C536799"], "umls": ["C0265490"], "wikidata": ["Q1426698"]} |
## Clinical Features
Pearlman et al. (1964) described mother and daughter with multiple carpal and tarsal synostoses (carpal and tarsal coalition) as well as radial-head subluxation, aplasia or hypoplasia of the middle phalanges, and metacarpophalangeal synostoses. The latter synostoses seem comparable to those... | SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL | c1861305 | 8,039 | omim | https://www.omim.org/entry/186400 | 2019-09-22T16:32:55 | {"doid": ["14762"], "mesh": ["C536943"], "omim": ["186400"], "orphanet": ["1412"], "synonyms": ["Alternative titles", "CALCANEONAVICULAR COALITION"]} |
A number sign (#) is used with this entry because of evidence that congenital nuclear cataract-41 (CTRCT41) is caused by heterozygous mutation in the WFS1 gene (606201) on chromosome 4p16. One such family has been reported.
Description
Cataract is an opacification of the lens or lens capsule in the eye and is the m... | CATARACT 41 | c0392557 | 8,040 | omim | https://www.omim.org/entry/116400 | 2019-09-22T16:43:36 | {"doid": ["0110241"], "mesh": ["C535342"], "omim": ["116400"], "icd-10": ["Q12.0"], "orphanet": ["98992", "91492", "98995", "98991"], "synonyms": ["Alternative titles", "CATARACT 41, CONGENITAL NUCLEAR TYPE"]} |
Czeizel (1983) described a lethal syndrome in 3 daughters of normal unrelated parents: one died at 2 months with omphalocele, posterior cleft palate, and uterus bicornis; the second died at 4 months with omphalocele, uvula duplex, and hydrocephalus internus; the third died at 1 year with omphalocele and cleft palate.... | OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL | c1850317 | 8,041 | omim | https://www.omim.org/entry/258320 | 2019-09-22T16:24:07 | {"mesh": ["C537747"], "omim": ["258320"], "orphanet": ["2736"], "synonyms": ["Alternative titles", "CLEFT PALATE-OMPHALOCELE SYNDROME, LETHAL"]} |
A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
## Epidemiology
To date, more than 70 patients have been reported with Purine nucleoside phosphorylase (PNP) deficiency in the worl... | Purine nucleoside phosphorylase deficiency | c0268125 | 8,042 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=760 | 2021-01-23T17:05:12 | {"gard": ["4606"], "mesh": ["C562587"], "omim": ["613179"], "umls": ["C0268125"], "icd-10": ["D81.5"], "synonyms": ["PNP deficiency", "PNPase deficiency"]} |
Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscl... | Tubular aggregate myopathy | c0410207 | 8,043 | gard | https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy | 2021-01-18T17:57:16 | {"mesh": ["D020914"], "omim": ["160565", "615883"], "umls": ["C0410207"], "orphanet": ["2593"], "synonyms": ["Myopathy, tubular aggregate"]} |
A rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and sometimes vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. H... | Herpetiform pemphigus | None | 8,044 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=208524 | 2021-01-23T17:45:21 | {"icd-10": ["L10.8"]} |
A type of nemaline myopathy (NM) only observed in several families of the Amish community.
## Clinical description
It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subsides after 2-3 months of age.
## Etiology
TNNT1 (19q13.4) is the... | Amish nemaline myopathy | c1854380 | 8,045 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98902 | 2021-01-23T17:43:11 | {"gard": ["8334"], "mesh": ["C538397"], "omim": ["605355"], "icd-10": ["G71.2"]} |
Chondrolysis [ICD Code M94.3] is the process of breakdown of cartilage. It can occur due to effect of various anesthetic agents like bupivacaine, lidocaine, ropivacaine and levobupivacaine are all toxic to cartilage and their intra-articular infusions can lead to this toxic effect.[1]
## See also[edit]
* Chondrit... | Chondrolysis | c0343263 | 8,046 | wikipedia | https://en.wikipedia.org/wiki/Chondrolysis | 2021-01-18T18:36:19 | {"umls": ["CL468866", "C0343263"], "icd-10": ["M94.3"], "wikidata": ["Q9845798"]} |
For a discussion of genetic heterogeneity of quantitative trait loci for intelligence, see INTLQ1 (603783).
Mapping
To identify chromosomal regions that explain variation in intelligence, Posthuma et al. (2005) conducted a genomewide scan involving 634 sib pairs. Model-free multipoint linkage analysis revealed ... | INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2 | c1853204 | 8,047 | omim | https://www.omim.org/entry/610294 | 2019-09-22T16:04:45 | {"omim": ["610294"], "synonyms": ["Alternative titles", "INTLQ2"]} |
Genetic X-linked recessive bleeding disorder
Haemophilia B
Other namesHemophilia B
This condition is inherited in an X-linked recessive manner.
SpecialtyHaematology
SymptomsEasy bruising[1]
CausesFactor IX deficiency[1]
Diagnostic methodBleeding scores, Coagulation factor assays[2]
TreatmentFactor IX c... | Haemophilia B | c0008533 | 8,048 | wikipedia | https://en.wikipedia.org/wiki/Haemophilia_B | 2021-01-18T19:07:06 | {"gard": ["8732"], "mesh": ["D002836"], "umls": ["C0008533"], "orphanet": ["98879"], "wikidata": ["Q2562598"]} |
For a phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see (133700).
Mapping
In a child with multiple exostoses with an interstitial deletion of chromosome 11, Le Merrer et al. (1994) excluded linkage to markers in the region 11p12-p11. However, the locus they termed 'EXT2... | EXOSTOSES, MULTIPLE, TYPE III | c0206641 | 8,049 | omim | https://www.omim.org/entry/600209 | 2019-09-22T16:16:28 | {"doid": ["206"], "mesh": ["D018216"], "omim": ["600209"], "orphanet": ["321"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant keratitis is caused by heterozygous mutation in the PAX6 gene (607108) on chromosome 11p13.
Description
Keratitis is a rare ocular disorder presenting with congenital and progressive features predominantly involving the anterior s... | KERATITIS, HEREDITARY | c1835698 | 8,050 | omim | https://www.omim.org/entry/148190 | 2019-09-22T16:39:19 | {"mesh": ["C537022"], "omim": ["148190"], "orphanet": ["2334"]} |
Primary mediastinal large B-cell lymphoma
Micrograph of a primary mediastinal large B-cell lymphoma. H&E stain.
SpecialtyHematology and oncology
Primary mediastinal B-cell lymphoma, abbreviated PMBL, is a rare type of lymphoma that forms in the mediastinum (the space in between the lungs) and predominantly a... | Primary mediastinal B-cell lymphoma | c1292754 | 8,051 | wikipedia | https://en.wikipedia.org/wiki/Primary_mediastinal_B-cell_lymphoma | 2021-01-18T19:07:20 | {"umls": ["C0855152", "C1292754"], "orphanet": ["98838"], "wikidata": ["Q53660452"]} |
In the course of studies of children with respiratory disease, Sturgess et al. (1980) identified a brother and sister, aged 22 and 19 years, respectively, with chronic sinopulmonary disease and transposition of the number 1 doublet microtubule. The anatomic defect was present in the nasal and bronchial cilia of b... | CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES | c0022521 | 8,052 | omim | https://www.omim.org/entry/215520 | 2019-09-22T16:29:33 | {"mesh": ["D007619"], "omim": ["244400", "215520"], "orphanet": ["244"], "synonyms": ["PCD"]} |
Radial aplasia
SpecialtyOrthopedic
Radial aplasia is a congenital defect which affects the formation of the radius bone in the arm. The radius is the lateral bone (thumb side) which connects the humerus of the upper arm to the wrist via articulation with the carpal bones. A child born with this condition has e... | Radial aplasia | c1838608 | 8,053 | wikipedia | https://en.wikipedia.org/wiki/Radial_aplasia | 2021-01-18T18:32:00 | {"umls": ["C1838608"], "orphanet": ["3016"], "wikidata": ["Q7280260"]} |
Warty dyskeratoma
Warty dyskeratoma, also known as an Isolated dyskeratosis follicularis,[1]:777 is a benign[2] epidermal proliferation with distinctive histologic findings that may mimic invasive squamous cell carcinoma[3] and commonly manifests as an umbilicated (Having a central mark or depression resembling ... | Warty dyskeratoma | c0334063 | 8,054 | wikipedia | https://en.wikipedia.org/wiki/Warty_dyskeratoma | 2021-01-18T18:33:36 | {"umls": ["C0334063"], "orphanet": ["69745"], "wikidata": ["Q7971063"]} |
Nocturnal epilepsy
SpecialtyNeurology
Nocturnal epilepsy is a seizure disorder in which seizures occur only while sleeping.[1] Several common forms of epilepsy, including frontal lobe epilepsy, can manifest in a nocturnal state.
Epilepsy can be nocturnal if the form of epilepsy triggers seizures only whil... | Nocturnal epilepsy | c0393719 | 8,055 | wikipedia | https://en.wikipedia.org/wiki/Nocturnal_epilepsy | 2021-01-18T19:09:36 | {"umls": ["C0393719"], "wikidata": ["Q7046514"]} |
Rare genetic disease
Spinal muscular atrophy with lower extremity predominance 2A
Other namesLower extremity-predominant spinal muscular atrophy type 2A, SMALED2A
Spinal muscular atrophy with lower extremity predominance 2A is inherited in an autosomal dominant manner.
SpecialtyNeurology
SymptomsMuscle w... | Spinal muscular atrophy with lower extremity predominance 2A | None | 8,056 | wikipedia | https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_lower_extremity_predominance_2A | 2021-01-18T18:28:50 | {"wikidata": ["Q102296729"]} |
Rare symptom of brain damage where sufferers deny being blind
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (September 2019) (Learn how and when to remove this template message)
Anton... | Anton–Babinski syndrome | None | 8,057 | wikipedia | https://en.wikipedia.org/wiki/Anton%E2%80%93Babinski_syndrome | 2021-01-18T18:53:46 | {"wikidata": ["Q15783653"]} |
A number sign (#) is used with this entry because of evidence that myopathy due to myoadenylate deaminase deficiency (MMDD) is caused by homozygous or compound heterozygous mutation in the AMPD1 gene (102770) on chromosome 1p13.
Description
Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive conditio... | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY | c0268123 | 8,058 | omim | https://www.omim.org/entry/615511 | 2019-09-22T15:51:51 | {"omim": ["615511"], "orphanet": ["45"], "synonyms": ["Alternative titles", "ADENOSINE MONOPHOSPHATE DEAMINASE-1 DEFICIENCY, MYOPATHY DUE TO", "AMPD1 DEFICIENCY", "MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO"]} |
Benign mesonephroma (Wolffian tumors or Wolffian duct adenomas) are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females.... | Benign mesonephroma | c1520159 | 8,059 | gard | https://rarediseases.info.nih.gov/diseases/8680/benign-mesonephroma | 2021-01-18T18:01:49 | {"mesh": ["C536741"], "umls": ["C1520159"], "synonyms": ["Wolffian adnexal tumor", "WAT", "Female adnexal tumor of probable Wolffian origin", "FATWO", "Wolffian adenoma", "Mesonephric adenoma", "Wolffian duct adenoma", "Wolffian tumor"]} |
A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decad... | Hyperostosis cranialis interna | c1840404 | 8,060 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=443098 | 2021-01-23T17:19:09 | {"mesh": ["C564168"], "omim": ["144755"], "umls": ["C1840404"], "icd-10": ["M85.2"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-17 (SCAR17) is caused by homozygous mutation in the CWF19L1 gene (616120) on chromosome 10q24.
Description
Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of ga... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 | c4015301 | 8,061 | omim | https://www.omim.org/entry/616127 | 2019-09-22T15:49:56 | {"doid": ["0080064"], "omim": ["616127"], "orphanet": ["453521"], "synonyms": ["SCAR17", "Spinocerebellar ataxia autosomal recessive type 17"]} |
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower fac... | Brachydactyly-mesomelia-intellectual disability-heart defects syndrome | None | 8,062 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1277 | 2021-01-23T18:40:13 | {"gard": ["5036"], "icd-10": ["Q87.8"], "synonyms": ["Stratton-Garcia-Young syndrome"]} |
A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Margin... | Primary cutaneous marginal zone B-cell lymphoma | c1275321 | 8,063 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178536 | 2021-01-23T17:20:12 | {"mesh": ["D018442"], "umls": ["C1275321"], "icd-10": ["C83.0"], "synonyms": ["PCMZL"]} |
Burnside-Butler syndrome
Other names15q11.2 BP1-BP2 microdeletion
Burnside-Butler syndrome is a name that has been applied to the effects of microdeletion of DNA sequences involving four neurodevelopmental genes (TUBGCP5, CYFIP1, NIPA1, and NIPA2).[1] Varying developmental and psychiatric disorders have been a... | Burnside-Butler syndrome | c3180937 | 8,064 | wikipedia | https://en.wikipedia.org/wiki/Burnside-Butler_syndrome | 2021-01-18T18:31:49 | {"gard": ["10525"], "mesh": ["C557830"], "umls": ["C3810258"], "wikidata": ["Q21154057"]} |
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early ... | Microlissencephaly-micromelia syndrome | None | 8,065 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=50810 | 2021-01-23T19:07:37 | {"icd-10": ["Q04.3"], "synonyms": ["Basel-Vanagaite-Sirota syndrome"]} |
Multiple cutaneous leiomyoma
Other namesHereditary leiomyomatosis and renal cell cancer [1]
SpecialtyDermatology
Multiple cutaneous leiomyomas, also known as Pilar leiomyomas,[2] arise from the arrectores pilorum muscles, and are made up of a poorly circumscribed proliferation of haphazardly arranged smooth ... | Multiple cutaneous leiomyoma | c0346065 | 8,066 | wikipedia | https://en.wikipedia.org/wiki/Multiple_cutaneous_leiomyoma | 2021-01-18T18:37:17 | {"umls": ["C0346065"], "wikidata": ["Q6934921"]} |
A number sign (#) is used with this entry because the Lutheran inhibitor (INLU) blood group phenotype of the Lutheran blood group (111200) results from heterozygous mutation in the KLF1 gene (600599) on chromosome 19p13.
Description
The Lutheran inhibitor blood group phenotype (In(Lu)) is characterized phenotyp... | BLOOD GROUP--LUTHERAN INHIBITOR | c1292231 | 8,067 | omim | https://www.omim.org/entry/111150 | 2019-09-22T16:44:20 | {"omim": ["111150"], "synonyms": ["Alternative titles", "DOMINANT LU (a-b-) PHENOTYPE"]} |
## Description
Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis (summary by Bamshad et al., 2009).
For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Clinical Features
Hall et al. (1982) reported a large Mexican famil... | ARTHROGRYPOSIS, DISTAL, TYPE 4 | c1836756 | 8,068 | omim | https://www.omim.org/entry/609128 | 2019-09-22T16:06:37 | {"doid": ["0050646"], "mesh": ["C563791"], "omim": ["609128"], "orphanet": ["65720"], "synonyms": ["Alternative titles", "ARTHROGRYPOSIS WITH SEVERE SCOLIOSIS", "ARTHROGRYPOSIS, DISTAL, TYPE IID"]} |
A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic ago... | Congenital tracheal stenosis | c0265767 | 8,069 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141127 | 2021-01-23T16:59:52 | {"gard": ["12008"], "mesh": ["C536975"], "omim": ["603569"], "umls": ["C0265767"], "icd-10": ["Q32.1"]} |
A number sign (#) is used with this entry because of evidence that Holt-Oram syndrome (HOS) is caused by heterozygous mutation in the TBX5 gene (601620) on chromosome 12q24.
Description
Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associ... | HOLT-ORAM SYNDROME | c0265264 | 8,070 | omim | https://www.omim.org/entry/142900 | 2019-09-22T16:40:10 | {"doid": ["0060468"], "mesh": ["C535326"], "omim": ["142900"], "icd-10": ["Q87.2"], "orphanet": ["392"], "synonyms": ["Alternative titles", "HOS1", "HEART-HAND SYNDROME", "ATRIODIGITAL DYSPLASIA"], "genereviews": ["NBK1111"]} |
Rare autosomal dominant multi-system genetic condition
Noonan syndrome with multiple lentigines (NSML)
Other namesLEOPARD syndrome, cardiocutaneous syndrome, Gorlin syndrome II, lentiginosis profusa syndrome, progressive cardiomyopathic lentiginosis,[1]:550 Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Moy... | Noonan syndrome with multiple lentigines | c0175704 | 8,071 | wikipedia | https://en.wikipedia.org/wiki/Noonan_syndrome_with_multiple_lentigines | 2021-01-18T19:02:17 | {"gard": ["1100"], "mesh": ["D044542"], "umls": ["C0175704"], "orphanet": ["500"], "wikidata": ["Q1798016"]} |
Levy et al. (2003) described 3 sibs, a boy and 2 girls, with congenital myopathy, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, deafness, and microcephaly. The joint contractures resolved with age. Cryptorchidism was present in the male, and congenital heart diseas... | SECRETORY DIARRHEA, MYOPATHY, AND DEAFNESS | c1843757 | 8,072 | omim | https://www.omim.org/entry/607540 | 2019-09-22T16:09:02 | {"mesh": ["C564382"], "omim": ["607540"]} |
Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
## Ep... | Tyrosinemia type 1 | c0268490 | 8,073 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=882 | 2021-01-23T19:05:19 | {"gard": ["2658"], "mesh": ["D020176"], "omim": ["276700"], "umls": ["C0268490"], "icd-10": ["E70.2"], "synonyms": ["FAH deficiency", "Fumarylacetoacetase deficiency", "Fumarylacetoacetate hydrolase deficiency", "Hepatorenal tyrosinemia", "Tyrosinemia type I"]} |
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve bi... | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | c4013360 | 8,074 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401964 | 2021-01-23T17:36:50 | {"gard": ["12447"], "omim": ["610100"], "icd-10": ["G60.0"], "synonyms": ["Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons", "CMT2 with giant axons", "HMSN2 with giant axons"]} |
Nägele's obliquity is the presentation of the anterior parietal bone to the birth canal during vaginal delivery with the biparietal diameter being oblique to the brim of the pelvis.[1] The synonym for this presentation is anterior asynclitism.[2] It was first described in 1777 by German Karl Nägele.[3][4]
## Referen... | Naegele obliquity | None | 8,075 | wikipedia | https://en.wikipedia.org/wiki/Naegele_obliquity | 2021-01-18T18:48:49 | {"wikidata": ["Q30314531"]} |
## Clinical Features
In 2 distantly related Amish boys, McKusick et al. (1968) observed absence deformity of the left leg, congenital cataract, and progressive scoliosis. One of the boys had also partial duplication of the left foot, imperforate anus, and partial paralysis of muscles supplied by the third crani... | LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT | c1855523 | 8,076 | omim | https://www.omim.org/entry/246000 | 2019-09-22T16:25:58 | {"mesh": ["C565442"], "omim": ["246000"], "orphanet": ["2310"]} |
## Clinical Features
Both proximal symphalangism (185800) and distal symphalangism (185700) are autosomal dominant disorders characterized by fusion of the proximal or distal interphalangeal joints, respectively. Kantaputra et al. (2002) described a seemingly novel form of distal symphalangism. A Thai mother and so... | SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH | c1847185 | 8,077 | omim | https://www.omim.org/entry/606895 | 2019-09-22T16:09:50 | {"mesh": ["C538148"], "omim": ["606895"]} |
MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.
## Epidemiology
The prevalence in the general population of Europe has been estimated at 0.9 in 100 000, but the disease seems to be more common in the USA.
## Clinical description
... | MERRF | c0162672 | 8,078 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=551 | 2021-01-23T17:55:46 | {"gard": ["7144"], "mesh": ["D017243"], "omim": ["545000"], "umls": ["C0162672"], "icd-10": ["G71.3"], "synonyms": ["Fukuhara syndrome", "Myoclonus epilepsy associated with ragged-red fibres"]} |
Accommodative infacility
SpecialtyOphthalmology
Accommodative infacility also known as accommodative inertia[1] is the inability to change the accommodation of the eye with enough speed and accuracy to achieve normal function. This can result in visual fatigue, headaches, and difficulty reading.[2] The delay i... | Accommodative infacility | c0729255 | 8,079 | wikipedia | https://en.wikipedia.org/wiki/Accommodative_infacility | 2021-01-18T18:39:41 | {"umls": ["C0729255", "C2938955"], "wikidata": ["Q16001577"]} |
A number sign (#) is used with this entry because thyroid dyshormonogenesis-6 (TDH6) is caused by homozygous or compound heterozygous mutation in the DUOX2 gene (606759) on chromosome 15q21.
For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see TDH1 (274... | THYROID DYSHORMONOGENESIS 6 | c1848805 | 8,080 | omim | https://www.omim.org/entry/607200 | 2019-09-22T16:09:32 | {"mesh": ["C564766"], "omim": ["274400", "607200"], "orphanet": ["95716"], "synonyms": ["THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6", "Alternative titles", "Thyroid dyshormonogenesis", "HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 6"]} |
Sight-threatening emergency
Retrobulbar bleeding
Other namesRetrobulbar hemorrhage
Anatomy of the orbit
SpecialtyOphthalmology
FrequencyRare[1]
Retrobulbar bleeding, also known as retrobulbar hemorrhage, is when bleeding occurring behind the eye.[1] Symptoms may include pain, bruising around the eye, th... | Retrobulbar bleeding | c0302497 | 8,081 | wikipedia | https://en.wikipedia.org/wiki/Retrobulbar_bleeding | 2021-01-18T19:02:48 | {"mesh": ["D019315"], "wikidata": ["Q42263577"]} |
Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed A... | Pseudohypoparathyroidism type 1C | c2932716 | 8,082 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79444 | 2021-01-23T16:54:25 | {"gard": ["10681"], "mesh": ["C548076"], "omim": ["612462"], "umls": ["C2932716"], "icd-10": ["E20.1"]} |
A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in KRT1 and KRT10 cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms in... | Keratinopathic ichthyosis | c4511307 | 8,083 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=281103 | 2021-01-23T18:34:52 | {"synonyms": ["KPI"]} |
A number sign (#) is used with this entry because of evidence that contractures, pterygia, and variable skeletal fusions syndrome-1A (CPSKF1A) is caused by heterozygous mutation in the MYH3 gene (160720) on chromosome 17p13.
Heterozygous mutation in the MYH3 gene can also cause distal arthrogryposes, including DA2A ... | CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1A | c1867440 | 8,084 | omim | https://www.omim.org/entry/178110 | 2019-09-22T16:35:32 | {"doid": ["0080110"], "mesh": ["C566739"], "omim": ["178110"], "orphanet": ["65743"], "synonyms": ["Alternative titles", "MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT", "PTERYGIUM SYNDROME, MULTIPLE", "ARTHROGRYPOSIS, DISTAL, TYPE 8, FORMERLY"]} |
Skin disease
Stevens–Johnson syndrome
Man with characteristic skin lesions of
Stevens–Johnson syndrome
SpecialtyDermatology
SymptomsFever, skin blisters, skin peeling, painful skin, red eyes[1]
ComplicationsDehydration, sepsis, pneumonia, multiple organ failure.[1]
Usual onsetAge < 30[2]
CausesCertain ... | Stevens–Johnson syndrome | c0014518 | 8,085 | wikipedia | https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome | 2021-01-18T19:09:02 | {"gard": ["7700"], "mesh": ["D013262"], "umls": ["C3658302", "C0014518", "C3658301", "C1274933", "C0038325"], "orphanet": ["537", "36426"], "wikidata": ["Q1053948"]} |
Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course.
## Epidemiology
SCCB is extremely rare with an annual incidence of less than 1-9/1,000,000. Since 1980, fe... | Small cell carcinoma of the bladder | None | 8,086 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284400 | 2021-01-23T17:24:50 | {"gard": ["11923"], "icd-10": ["C67.0", "C67.1", "C67.2", "C67.3", "C67.4", "C67.5", "C67.6", "C67.7", "C67.8", "C67.9"], "synonyms": ["Poorly differentiated neuroendocrine carcinoma of the bladder", "SCCB", "Small cell bladder cancer", "Small cell bladder carcinoma", "Small cell carcinoma of the urinary bladder"]} |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome.
Description
The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic fe... | CHROMOSOME 16q22 DELETION SYNDROME | c3281152 | 8,087 | omim | https://www.omim.org/entry/614541 | 2019-09-22T15:54:54 | {"omim": ["614541"]} |
The term morbilliform refers to a rash that looks like measles. The rash consists of macular lesions that are red and usually 2–10 mm in diameter but may be confluent in places.[1] A morbilliform rash is a rose-red flat (macular) or slightly elevated (maculopapular) eruption, showing circular or elliptical lesions va... | Morbilliform | c0234918 | 8,088 | wikipedia | https://en.wikipedia.org/wiki/Morbilliform | 2021-01-18T18:58:01 | {"umls": ["C0234918"], "wikidata": ["Q3061764"]} |
A number sign (#) is used with this entry because of evidence that Fuhrmann syndrome is caused by homozygous mutation in the WNT7A gene (601570) on chromosome 3p25.
Clinical Features
In 2 boys and a girl of a Turkish-Arabian family working in Germany, Fuhrmann et al. (1980) described a 'new' syndrome consisting... | FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY | c1856728 | 8,089 | omim | https://www.omim.org/entry/228930 | 2019-09-22T16:27:53 | {"doid": ["0090067"], "mesh": ["C538189"], "omim": ["228930"], "orphanet": ["2854"], "synonyms": ["Alternative titles", "FUHRMANN SYNDROME"]} |
## Description
Fetal hemoglobin (HbF) levels vary considerably in healthy normal adults. The distribution of HbF and F cells, erythrocytes that contain measurable HbF, in healthy adults is continuous, although most adults have HbF of less than 0.6% of total Hb. Approximately 10 to 15% of individuals have increases ... | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2 | c1840598 | 8,090 | omim | https://www.omim.org/entry/142470 | 2019-09-22T16:40:22 | {"omim": ["142470"], "icd-10": ["D56.4"], "orphanet": ["46532", "251380"], "synonyms": ["HPFH-beta-thalassemia syndrome", "HPFH-sickle cell disease syndrome"]} |
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.
## Epidemiology
The prevalence of CCD is 1/1,000,000, with higher rates in groups with a founder eff... | Cleidocranial dysplasia | c0008928 | 8,091 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1452 | 2021-01-23T17:33:08 | {"gard": ["6118"], "mesh": ["D002973"], "omim": ["119600", "216330"], "umls": ["C0008928"], "icd-10": ["Q74.0"], "synonyms": ["Cleidocranial dysostosis"]} |
Xanthogranulomatous osteomyelitis
Other namesXO
SpecialtyInfectious disease, orthopedic
Xanthogranulomatous osteomyelitis is a peculiar aspect of osteomyelitis characterized by prevalent histiocytic infiltrate and foamy macrophage clustering.[1]
## Contents
* 1 Pathology
* 2 Diagnosis
* 3 Management
... | Xanthogranulomatous osteomyelitis | None | 8,092 | wikipedia | https://en.wikipedia.org/wiki/Xanthogranulomatous_osteomyelitis | 2021-01-18T18:53:11 | {"wikidata": ["Q8043030"]} |
Du Bois sign
Symptomsshortened little fingers
Differential diagnosiscongenital syphilis
The du Bois sign is a medical finding of shortness of the little finger in congenital syphilis.[1][2]
## References[edit]
1. ^ Braun-Falco, O., 978-3540594529, Dermatology, 2000, Springer
2. ^ Voelpel, James H.; Mue... | Du Bois sign | c1842878 | 8,093 | wikipedia | https://en.wikipedia.org/wiki/Du_Bois_sign | 2021-01-18T18:57:30 | {"umls": ["C1842878"], "wikidata": ["Q5311066"]} |
Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies... | Lamellar ichthyosis | c3536797 | 8,094 | medlineplus | https://medlineplus.gov/genetics/condition/lamellar-ichthyosis/ | 2021-01-27T08:25:31 | {"gard": ["10803"], "mesh": ["D017490"], "omim": ["242300", "606545", "601277", "604777"], "synonyms": []} |
Squamous cell carcinoma of the corpus uteri is a rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervic... | Squamous cell carcinoma of the corpus uteri | c1333396 | 8,095 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213716 | 2021-01-23T18:47:29 | {"icd-10": ["C54.9"], "synonyms": ["Endometrial squamous cell carcinoma"]} |
Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular pro... | Xp22.13p22.2 duplication syndrome | None | 8,096 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284180 | 2021-01-23T17:45:37 | {"icd-10": ["Q99.8"], "synonyms": ["Dup(X)(p22)", "Dup(X)(p22.13p22.2)", "Duplication Xp22"]} |
Unpleasant, abnormal sense of touch
Dysesthesia (or dysaesthesia) means "abnormal sensation". Its etymology comes from the Greek word "dys," meaning "not-normal," and "aesthesis," which means "sensation" (abnormal sensation). It is defined as an unpleasant, abnormal sense of touch. It often presents as pain[1] but m... | Dysesthesia | c0392699 | 8,097 | wikipedia | https://en.wikipedia.org/wiki/Dysesthesia | 2021-01-18T18:34:32 | {"mesh": ["D010292"], "umls": ["C0392699"], "icd-10": ["R20.8"], "wikidata": ["Q1269376"]} |
This article is about the fear of loud sounds. For the aversion to specific sounds, such as eating, coughing, or alarms, see Misophonia. For the fear of making or taking phone calls, see Telephone phobia.
Phonophobia
Other namesLigyrophobia, sonophobia, acousticophobia[1]
SpecialtyPsychiatry, neurology
Phon... | Phonophobia | c0751466 | 8,098 | wikipedia | https://en.wikipedia.org/wiki/Phonophobia | 2021-01-18T18:39:50 | {"mesh": ["D012001"], "wikidata": ["Q2434711"]} |
A number sign (#) is used with this entry because of evidence that ectodermal dysplasia-7 (ECTD7) is caused by homozygous mutation in the KRT74 gene (608248) on chromosome 12q13. One such family has been reported.
Description
Some ectodermal dysplasias are here classified as congenital disorders characterized b... | ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE | c1865951 | 8,099 | omim | https://www.omim.org/entry/614929 | 2019-09-22T15:53:40 | {"mesh": ["C566592"], "omim": ["614929"], "orphanet": ["69084"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.