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DOID:0070016 - autosomal dominant dyskeratosis congenita 2
Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERT on chromosome 5p15.33.
Synonyms: DKCA2,
Echinobase Genes : tert
MIM:613989 - dyskeratosis congenita, autosomal dominant, 2; dkca2 dyskeratosis congenita, autosomal recessive, 4, included; dkcb4, included |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
dyskeratosis congenita (is_a)