Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070014 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models