FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term digenic dyskeratosis congenita ID (Ontology) DOID:0060984 (Human Disease)
Definition 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.
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 digenic dyskeratosis congenita       1
 for disease ribbon | digenic dyskeratosis congenita       1
 model of | digenic dyskeratosis congenita       1
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digenic disease__
skin disease_____|
                 dyskeratosis congenita
                  |__digenic dyskeratosis congenita  1 rec.
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MIM:620040