| Metadata | |
|---|---|
| ID | DOID:0070671 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070671 Copy |
| Name | autosomal recessive nonsyndromic deafness 117 |
| Definition | An autosomal recessive nonsyndromic deafness characterized by bilateral moderate-to-profound sensorineural deafness with onset in early childhood that has_material_basis_in homozygous mutation in the CLRN2 gene on chromosome 4p15. https://pmc.ncbi.nlm.nih.gov/articles/PMC8099798/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619174 |
| Subsets |
DO_rare_slim |
| Synonyms |
DFNB117 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |