autosomal dominant dyskeratosis congenita 3

Term ID

DOID:0070018

Synonyms

• DKCA3

Definition

A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. https://www.ncbi.nlm.nih.gov/pubmed/18252230

References

• OMIM:613990

Ontology

Human Disease   ( DOID:0070018 )