Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620794 http://purl.bioontology.org/ontology/OMIM/620794
Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 124
Synonyms	DFNB124
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNB124
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 124
Gene Symbol	DFNB124 PKHD1L1
Scope Statement	Based on one report of 4 unrelated probands (last curated April 2024) [MISCELLANEOUS] Onset at birth [MISCELLANEOUS] Caused by mutation in the PKHD1-like-1 gene (PKHD1L1, 607843.0001) [MOLECULAR BASIS] Variable severity of hearing loss [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002822
tui	T047
Gene Locus	8q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620794
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5935612
OMIM Entry Type	3
OMIM MimType Value	pound

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