| Metadata | |
|---|---|
| ID | DOID:0111638 |
| PURL | http://purl.obolibrary.org/obo/DOID_0111638 Copy |
| Name | autosomal recessive nonsyndromic deafness 100 |
| Definition | An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. https://www.ncbi.nlm.nih.gov/pubmed/29590114 |
| Xrefs | |
| Synonyms |
autosomal recessive deafness 100 [EXACT] DFNB100 [EXACT] |
| Parent Relationships |