Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615429 http://purl.bioontology.org/ontology/OMIM/615429
Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 88
Synonyms	DFNB88
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNB88
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 88
Gene Symbol	DFNB88 RBED1 DFNA81 ELMOD3
Scope Statement	Prelingual onset [MISCELLANEOUS] Caused by mutation in the ELMO/CED12 domain-containing protein 3 gene (ELMOD3, 615427.0001) [MOLECULAR BASIS] One Pakistani family has been reported (last curated September 2013) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044225
tui	T047
Gene Locus	2p11.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615429
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C2829267
OMIM Entry Type	3
OMIM MimType Value	pound

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