| Metadata | |
|---|---|
| ID | DOID:0070672 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070672 Copy |
| Name | autosomal recessive nonsyndromic deafness 118 |
| Definition | An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia that has_material_basis_in homozygous 200-kb deletion of a region downstream of the GDF6 gene on chromosome 8q22 resulting in its misexpression. https://pmc.ncbi.nlm.nih.gov/articles/PMC7410044/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619553 |
| Subsets |
DO_rare_slim |
| Synonyms |
DFNB118 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |