autosomal dominant dyskeratosis congenita 2

Term ID

DOID:0070016

Synonyms

• DKCA2

Definition

A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. https://www.ncbi.nlm.nih.gov/pubmed/16247010

References

• OMIM:613989

Ontology

Human Disease   ( DOID:0070016 )