autosomal recessive nonsyndromic deafness 23
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 PCDH15 gene on chromosome 10q21
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autosomal recessive nonsyndromic deafness 23
Summary
autosomal recessive nonsyndromic deafness 23 is a rare disease[1].
Key Facts
- autosomal recessive nonsyndromic deafness 23's instance of is recorded as rare disease[2].
- autosomal recessive nonsyndromic deafness 23's instance of is recorded as class of disease[3].
- autosomal recessive nonsyndromic deafness 23's subclass of is recorded as autosomal recessive nonsyndromic deafness[4].
- autosomal recessive nonsyndromic deafness 23's MeSH descriptor ID is recorded as C563705[5].
- autosomal recessive nonsyndromic deafness 23's OMIM ID is recorded as 609533[6].
- autosomal recessive nonsyndromic deafness 23's Disease Ontology ID is recorded as DOID:0110481[7].
- autosomal recessive nonsyndromic deafness 23's genetic association is recorded as PCDH15[8].
- autosomal recessive nonsyndromic deafness 23's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110481[9].
- autosomal recessive nonsyndromic deafness 23's exact match is recorded as http://identifiers.org/doid/DOID:0110481[10].
- autosomal recessive nonsyndromic deafness 23's UMLS CUI is recorded as C1836027[11].
- autosomal recessive nonsyndromic deafness 23's ICD-10-CM is recorded as H90.3[12].
- autosomal recessive nonsyndromic deafness 23's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- autosomal recessive nonsyndromic deafness 23's Mondo ID is recorded as MONDO_0012293[14].
- autosomal recessive nonsyndromic deafness 23's UniProt disease ID is recorded as DI-00867[15].