Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620283 http://purl.bioontology.org/ontology/OMIM/620283
Preferred Name	DEAFNESS, AUTOSOMAL DOMINANT 88
Synonyms	DFNA88
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNA88
prefLabel	DEAFNESS, AUTOSOMAL DOMINANT 88
Gene Symbol	DFNA88 EPHA10
Scope Statement	Good response to cochlear implant [MISCELLANEOUS] Onset in 3rd or 4th decades of life [MISCELLANEOUS] Based on report of a large 4-generation Han Chinese family [MISCELLANEOUS] Caused by mutation in the ephrin receptor EphA10 gene (EPHA10, 611123.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003968 http://purl.bioontology.org/ontology/OMIM/MTHU077028
tui	T047
Gene Locus	1p34.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620283
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5830355
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display