autosomal recessive nonsyndromic deafness 49

autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has material basis in mutation in the MARVELD2 gene on chromosome 5q13

Wikidata entity: Q28024633

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q18052235 (MARVELD2) MARVELD2
P31 instance of ... Q55789477 (head and neck disease) head and neck disease
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P1748 NCI Thesaurus ID String C129024 ???
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:0110506
P4229ICD-10-CMH90.3
P486MeSH descriptor IDC565717
P5270Mondo IDMONDO_0012420
P492OMIM ID610153
P492OMIM ID610153
P2892UMLS CUIC1857811
P11430UniProt disease IDDI-00875

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