Autosomal Recessive Nonsyndromic Deafness 100
Disease ID: disease_node_14970
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| Dbxref | MIM:618422 |
|---|---|
| Subclassof | DOID_0050565 |
| Data Source | DOID |
| Synonyms | DFNB100, autosomal recessive deafness 100 |
| Doid Label | autosomal recessive nonsyndromic deafness 100 |
| Doid Description | 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. |
| Disease Node Id | disease_node_14970 |
| Doid Id | DOID_0111638 |
| Label | Autosomal Recessive Nonsyndromic Deafness 100 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Nonsyndromic Deafness(ID:disease_node_14962) (Disease)