| Metadata | |
|---|---|
| ID | DOID:0110506 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110506 Copy |
| Name | autosomal recessive nonsyndromic deafness 49 |
| Definition | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. https://www.ncbi.nlm.nih.gov/pubmed/18084694 |
| Xrefs | |
| Synonyms |
autosomal recessive deafness 49 [EXACT] DFNB49 [EXACT] |
| Parent Relationships |