|
DOID:0070014 - autosomal dominant dyskeratosis congenita 1
Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.
Synonyms: DKCA1, Dyskeratosis Congenita, Scoggins Type,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MONDO:0007485 - Absence of subcutaneous fat |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee