Autosomal Recessive Nonsyndromic Deafness 99
Disease ID: disease_node_14974
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618481 |
|---|---|
| Subclassof | DOID_0050565 |
| Data Source | DOID |
| Synonyms | DFNB99, autosomal recessive deafness 99 |
| Doid Label | autosomal recessive nonsyndromic deafness 99 |
| Doid Description | An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. |
| Disease Node Id | disease_node_14974 |
| Doid Id | DOID_0111634 |
| Label | Autosomal Recessive Nonsyndromic Deafness 99 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Nonsyndromic Deafness(ID:disease_node_14962) (Disease)