Perrault Syndrome 6
Disease ID: disease_node_20350
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| Dbxref | MIM:617565 |
|---|---|
| Subclassof | DOID_0050857 |
| Data Source | DOID |
| Doid Label | Perrault syndrome 6 |
| Doid Description | A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20350 |
| Doid Id | DOID_0080256 |
| Label | Perrault Syndrome 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Perrault Syndrome(ID:disease_node_20349) (Disease)