Version: 8.0.0
Date: Tue Jan 28 2025
digenic dyskeratosis congenita
DOID:0060984
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

digenic dyskeratosis congenita

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.
Synonyms
None
Cross References
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Sources of Associations

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