autosomal recessive nonsyndromic deafness 30

autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutations in the MYO3A gene on chromosome 10p12.1

Wikidata entity: Q28024616

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q18040719 (MYO3A) MYO3A
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q18553310 (autosomal recessive nonsyndromic deafness) autosomal recessive nonsyndromic deafness
External Ids
P699Disease Ontology IDDOID:0110489
P4229ICD-10-CMH90.3
P486MeSH descriptor IDC564624
P5270Mondo IDMONDO_0011774
P492OMIM ID607101
P492OMIM ID607101
P1550Orphanet ID90636
P2892UMLS CUIC1846784
P11430UniProt disease IDDI-00870

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