| Metadata | |
|---|---|
| ID | DOID:0061117 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061117 Copy |
| Name | Perrault syndrome 2 |
| Definition | A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/21464306/ |
| Xrefs | |
| Parent Relationships |
is_a Perrault syndrome |