autosomal dominant nonsyndromic deafness 3A
autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has material basis in mutation in the GJB2 gene on chromosome 13q12
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autosomal dominant nonsyndromic deafness 3A
Summary
autosomal dominant nonsyndromic deafness 3A is a head and neck disease[1].
Key Facts
- autosomal dominant nonsyndromic deafness 3A's instance of is recorded as head and neck disease[2].
- autosomal dominant nonsyndromic deafness 3A's instance of is recorded as rare disease[3].
- autosomal dominant nonsyndromic deafness 3A's instance of is recorded as class of disease[4].
- autosomal dominant nonsyndromic deafness 3A's subclass of is recorded as autosomal dominant nonsyndromic deafness[5].
- autosomal dominant nonsyndromic deafness 3A's MeSH descriptor ID is recorded as C567277[6].
- autosomal dominant nonsyndromic deafness 3A's OMIM ID is recorded as 601544[7].
- autosomal dominant nonsyndromic deafness 3A's Disease Ontology ID is recorded as DOID:0110564[8].
- autosomal dominant nonsyndromic deafness 3A's genetic association is recorded as GJB2[9].
- autosomal dominant nonsyndromic deafness 3A's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110564[10].
- autosomal dominant nonsyndromic deafness 3A's exact match is recorded as http://identifiers.org/doid/DOID:0110564[11].
- autosomal dominant nonsyndromic deafness 3A's UMLS CUI is recorded as C2675750[12].
- autosomal dominant nonsyndromic deafness 3A's ICD-10-CM is recorded as H90.3[13].
- autosomal dominant nonsyndromic deafness 3A's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- autosomal dominant nonsyndromic deafness 3A's on focus list of Wikimedia project is recorded as WikiProject Hearing Health[15].
- autosomal dominant nonsyndromic deafness 3A's Mondo ID is recorded as MONDO_0011103[16].
- autosomal dominant nonsyndromic deafness 3A's UniProt disease ID is recorded as DI-00834[17].