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Metadata
ID	DOID:0060984
Name	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. https://pubmed.ncbi.nlm.nih.gov/35931051/
Xrefs	MIM:620040
Parent Relationships	is_a dyskeratosis congenita
Subclass Logical Relationships	has material basis in some digenic inheritance