| Metadata | |
|---|---|
| ID | DOID:0070673 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070673 Copy |
| Name | autosomal recessive nonsyndromic deafness 119 |
| Definition | An autosomal recessive nonsyndromic deafness characterized by mild to profound sensorineural hearing loss that has_material_basis_in compound heterozygous mutation in the AFG2B gene on chromosome 15q21. https://pmc.ncbi.nlm.nih.gov/articles/PMC8546233/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619615 |
| Subsets |
DO_rare_slim |
| Synonyms |
DFNB119 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |