autosomal dominant dyskeratosis congenita 1

Term ID

DOID:0070014

Synonyms

• DKCA1
• Dyskeratosis Congenita, Scoggins Type

Definition

A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. https://www.ncbi.nlm.nih.gov/pubmed/11574891

References

• OMIM:127550

Ontology

Human Disease   ( DOID:0070014 )