autosomal dominant dyskeratosis congenita 1

Summary

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

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tinf2, tert, terc

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007485 - dyskeratosis congenita, autosomal dominant 1

MONDO:0007485 - dyskeratosis congenita, autosomal dominant 1

MIM:

MIM:127550 - DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1

MIM:127550 - DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), dyskeratosis congenita (is_a)