Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618003
http://purl.bioontology.org/ontology/OMIM/618003
Preferred Name

DEAFNESS, AUTOSOMAL RECESSIVE 57
Synonyms
DFNB57
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DFNB57
prefLabel
DEAFNESS, AUTOSOMAL RECESSIVE 57
Gene Symbol
PDZD7
DFNB57
Scope Statement
Onset in early childhood [MISCELLANEOUS]
Onset is prelingual in some patients [MISCELLANEOUS]
Caused by mutation in the PDZ domain-containing 7 gene (PDZD7, 612971.0003) [MOLECULAR BASIS]
Hearing loss may be progressive in some patients [MISCELLANEOUS]
Hearing loss ranges from moderate to severe [MISCELLANEOUS]
type
Has manifestation
tui
T047
Gene Locus
10q24.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618003
Semantic type UMLS property
Has inheritance type
cui
C4693893
OMIM Entry Type
3
OMIM MimType Value
pound
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