Digenic Dyskeratosis Congenita
Disease ID: disease_node_13628
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| Dbxref | MIM:620040 |
|---|---|
| Subclassof | DOID_2729 |
| Data Source | DOID |
| Doid Label | digenic dyskeratosis congenita |
| Doid Description | A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. |
| Has Material Basis In | GENO_0000930 |
| Disease Node Id | disease_node_13628 |
| Doid Id | DOID_0060984 |
| Label | Digenic Dyskeratosis Congenita |
- Outgoing r'ship
SUBCLASS_OFto/from Dyskeratosis Congenita(ID:disease_node_10031) (Disease)