digenic dyskeratosis congenita

Term ID

DOID:0060984

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. https://pubmed.ncbi.nlm.nih.gov/35931051/

References

• MIM:620040

Ontology

Human Disease   ( DOID:0060984 )