Visualize Submit Comment
Metadata
ID DOID:0070018
Name autosomal dominant dyskeratosis congenita 3
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
Xrefs

OMIM:613990

Synonyms

DKCA3 [EXACT]

Parent Relationships

is_a dyskeratosis congenita

is_a autosomal dominant disease

Add an item to the term tracker