| Metadata | |
|---|---|
| ID | DOID:0070669 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070669 Copy |
| Name | autosomal recessive nonsyndromic deafness 122 |
| Definition | An autosomal recessive nonsyndromic deafness characterized by postnatal onset of sensorineural hearing loss, affecting high frequencies first and progressing to deficits in all frequencies, that results in deafness by the second or third decade and has_material_basis_in compound heterozygous mutation in the TMTC4 gene on chromosome 13q32. https://pmc.ncbi.nlm.nih.gov/articles/PMC10807715/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620714 |
| Subsets |
DO_rare_slim |
| Synonyms |
DFNB122 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |