| Metadata | |
|---|---|
| ID | DOID:0070670 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070670 Copy |
| Name | autosomal recessive nonsyndromic deafness 123 |
| Definition | An autosomal recessive nonsyndromic deafness characterized by bilateral severe to profound hearing impairment with onset as early as the first decade of life that has_material_basis_in homozygous mutation in the STX4 gene on chromosome 16p11. https://pmc.ncbi.nlm.nih.gov/articles/PMC10026253/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620745 |
| Subsets |
DO_rare_slim |
| Synonyms |
DFNB123 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |