autosomal dominant dyskeratosis congenita 4

Summary

DOID:0070020 - autosomal dominant dyskeratosis congenita 4

Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33.

Synonyms: DKCA4

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

: rtel1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014076 - dyskeratosis congenita, autosomal recessive 5

MONDO:0014076 - dyskeratosis congenita, autosomal recessive 5

MIM:

MIM:615190 - DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

MIM:615190 - DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

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)