| Metadata | |
|---|---|
| ID | DOID:0070676 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070676 Copy |
| Name | autosomal recessive nonsyndromic deafness 124 |
| Definition | An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23. https://pmc.ncbi.nlm.nih.gov/articles/PMC11043200/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620794 |
| Subsets |
DO_rare_slim |
| Synonyms |
DFNB124 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |