Revesz Syndrome
Disease ID: disease_node_13629
Connections displayed (default: 10).
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| Dbxref | GARD:4695, MIM:268130 |
|---|---|
| Subclassof | DOID_0050736, DOID_2729 |
| Data Source | DOID |
| Synonyms | DKCA5, Dyskeratosis Congenita, Autosomal Dominant 5, exudative retinopathy with bone marrow failure |
| Doid Label | Revesz syndrome |
| Doid Description | A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13629 |
| Doid Id | DOID_0070026 |
| Label | Revesz Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Dyskeratosis Congenita(ID:disease_node_10031) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)