autosomal dominant dyskeratosis congenita 4

Term ID

DOID:0070020

Synonyms

• DKCA4

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

References

Ontology

Human Disease   ( DOID:0070020 )