autosomal recessive nonsyndromic deafness 53
autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the COL11A2 gene on chromosome 6p21
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autosomal recessive nonsyndromic deafness 53
Summary
autosomal recessive nonsyndromic deafness 53 is a head and neck disease[1].
Key Facts
- autosomal recessive nonsyndromic deafness 53's instance of is recorded as head and neck disease[2].
- autosomal recessive nonsyndromic deafness 53's instance of is recorded as rare disease[3].
- autosomal recessive nonsyndromic deafness 53's instance of is recorded as class of disease[4].
- autosomal recessive nonsyndromic deafness 53's subclass of is recorded as autosomal recessive nonsyndromic deafness[5].
- autosomal recessive nonsyndromic deafness 53's MeSH descriptor ID is recorded as C566453[6].
- autosomal recessive nonsyndromic deafness 53's OMIM ID is recorded as 609706[7].
- autosomal recessive nonsyndromic deafness 53's Disease Ontology ID is recorded as DOID:0110509[8].
- autosomal recessive nonsyndromic deafness 53's genetic association is recorded as COL11A2[9].
- autosomal recessive nonsyndromic deafness 53's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110509[10].
- autosomal recessive nonsyndromic deafness 53's exact match is recorded as http://identifiers.org/doid/DOID:0110509[11].
- autosomal recessive nonsyndromic deafness 53's UMLS CUI is recorded as C1864746[12].
- autosomal recessive nonsyndromic deafness 53's ICD-10-CM is recorded as H90.3[13].
- autosomal recessive nonsyndromic deafness 53's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- autosomal recessive nonsyndromic deafness 53's Mondo ID is recorded as MONDO_0012333[15].
- autosomal recessive nonsyndromic deafness 53's UniProt disease ID is recorded as DI-00876[16].