Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615974 http://purl.bioontology.org/ontology/OMIM/615974
Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 102
Synonyms	DFNB102
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNB102
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 102
Gene Symbol	DFNB102 EPS8
Scope Statement	Congenital onset [MISCELLANEOUS] One consanguineous Algerian family has been reported (last curated August 2014) [MISCELLANEOUS] Caused by mutation in the epidermal growth factor receptor pathway substrate 8 gene (EPS8, 600206.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000299
tui	T047
Gene Locus	12p12.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615974
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3892050
OMIM Entry Type	3
OMIM MimType Value	pound

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