autosomal dominant dyskeratosis congenita 3

Summary

DOID:0070018 - autosomal dominant dyskeratosis congenita 3

Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12.

Synonyms: DKCA3

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013522 - subdivision of tube

MONDO:0013522 - subdivision of tube

MIM:

MIM:613990 - DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

MIM:613990 - DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

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)