Autosomal Domit Dyskeratosis Congenita 1
Disease ID: disease_node_13641
Connections displayed (default: 10).
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| Dbxref | MIM:127550 |
|---|---|
| Subclassof | DOID_0050736, DOID_2729 |
| Data Source | DOID |
| Synonyms | DKCA1, Dyskeratosis Congenita, Scoggins Type |
| Doid Label | autosomal domit dyskeratosis congenita 1 |
| Doid Description | A dyskeratosis congenita that has_material_basis_in an autosomal domit mutation of the TERC gene on chromosome 3q26.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13641 |
| Doid Id | DOID_0070014 |
| Label | Autosomal Domit Dyskeratosis Congenita 1 |
- 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)