Term Name: | digenic dyskeratosis congenita |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060984] ( DOID:0060984 ) |