Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Disease ID: disease_node_20347
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| Dbxref | MIM:617763, ORDO:494439 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Doid Label | short stature, hearing loss, retinitis pigmentosa, and distinctive facies |
| Doid Description | A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20347 |
| Doid Id | DOID_0081175 |
| Label | Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)