Autosomal Recessive Nonsyndromic Deafness 109
Disease ID: disease_node_14969
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| Dbxref | MIM:618013 |
|---|---|
| Subclassof | DOID_0050565 |
| Data Source | DOID |
| Synonyms | DFNB109, autosomal recessive deafness 109 |
| Doid Label | autosomal recessive nonsyndromic deafness 109 |
| Doid Description | An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. |
| Disease Node Id | disease_node_14969 |
| Doid Id | DOID_0111639 |
| Label | Autosomal Recessive Nonsyndromic Deafness 109 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Nonsyndromic Deafness(ID:disease_node_14962) (Disease)