Autosomal Recessive Dyskeratosis Congenita 5
Disease ID: disease_node_13633
Connections displayed (default: 10).
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| Dbxref | MIM:615190 |
|---|---|
| Subclassof | DOID_2729, DOID_0050737 |
| Data Source | DOID |
| Synonyms | DKCB5 |
| Doid Label | autosomal recessive dyskeratosis congenita 5 |
| Doid Description | A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13633 |
| Doid Id | DOID_0070022 |
| Label | Autosomal Recessive Dyskeratosis Congenita 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Dyskeratosis Congenita(ID:disease_node_10031) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)