autosomal recessive nonsyndromic deafness 29
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 CLDN14 gene on chromosome 21q22
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autosomal recessive nonsyndromic deafness 29
Summary
autosomal recessive nonsyndromic deafness 29 is a rare disease[1].
Key Facts
- autosomal recessive nonsyndromic deafness 29's instance of is recorded as rare disease[2].
- autosomal recessive nonsyndromic deafness 29's instance of is recorded as class of disease[3].
- autosomal recessive nonsyndromic deafness 29's subclass of is recorded as autosomal recessive nonsyndromic deafness[4].
- autosomal recessive nonsyndromic deafness 29's OMIM ID is recorded as 614035[5].
- autosomal recessive nonsyndromic deafness 29's Disease Ontology ID is recorded as DOID:0110487[6].
- autosomal recessive nonsyndromic deafness 29's genetic association is recorded as CLDN14[7].
- autosomal recessive nonsyndromic deafness 29's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110487[8].
- autosomal recessive nonsyndromic deafness 29's exact match is recorded as http://identifiers.org/doid/DOID:0110487[9].
- autosomal recessive nonsyndromic deafness 29's UMLS CUI is recorded as C3279660[10].
- autosomal recessive nonsyndromic deafness 29's ICD-10-CM is recorded as H90.3[11].
- autosomal recessive nonsyndromic deafness 29's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- autosomal recessive nonsyndromic deafness 29's Mondo ID is recorded as MONDO_0013537[13].
- autosomal recessive nonsyndromic deafness 29's UniProt disease ID is recorded as DI-00869[14].