autosomal recessive dyskeratosis congenita 4

Summary

DOID:0070021 - autosomal recessive dyskeratosis congenita 4

Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33.

Synonyms: DKCB4

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

: tert

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0027353 - autosomal recessive dyskeratosis congenita 4

MONDO:0027353 - autosomal recessive dyskeratosis congenita 4

MIM:

MIM:613989 - DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

MIM:613989 - DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

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

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

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