Visualize Submit Comment
Metadata
ID DOID:0070020
Name autosomal dominant dyskeratosis congenita 4
Definition A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33.
https://www.ncbi.nlm.nih.gov/pubmed/23329068
Synonyms

DKCA4 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a dyskeratosis congenita

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

Add an item to the term tracker