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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/276900
http://purl.bioontology.org/ontology/OMIM/276900
|
|---|---|
| Preferred Name | USHER SYNDROME, TYPE I |
| Synonyms |
USHER SYNDROME, TYPE IA, FORMERLY
USH1
USH1A, FORMERLY
US1
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USH1B
USHER SYNDROME, TYPE IB
RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
USHER SYNDROME, TYPE IA, FORMERLY
USH1
USH1A, FORMERLY
US1
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USH1B
USHER SYNDROME, TYPE IB
RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS
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|---|---|
| prefLabel | USHER SYNDROME, TYPE I
|
| Gene Symbol |
USH1B
DFNB2
MYO7A
DFNA11
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| notation | 276900
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| Scope Statement | Usher syndrome type III (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus [MISCELLANEOUS]
Known as the 'French variety' of Usher syndrome since the majority of families are from Poitou-Charentes, France [MISCELLANEOUS]
Caused by mutation in the myosin VIIA gene (MYO7A, 276903.0001) [MOLECULAR BASIS]
Genetic heterogeneity [MISCELLANEOUS]
Usher syndrome type I (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci [MISCELLANEOUS]
User syndrome type II (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 11q13.5
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| tui | T047
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| cui |
C1568247
C1848638
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