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Metadata
ID DOID:0070675
PURL http://purl.obolibrary.org/obo/DOID_0070675 Copy
Name autosomal recessive nonsyndromic deafness 121
Definition An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual moderate sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GPR156 gene on chromosome 3q13.
https://pmc.ncbi.nlm.nih.gov/articles/PMC10562426/
Xrefs

MIM:620551

SKOS

exactMatch MIM:620551

Subsets

DO_rare_slim

Synonyms

DFNB121 [EXACT]

Parent Relationships

is_a autosomal recessive nonsyndromic deafness

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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