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DOID:0070022 - autosomal recessive dyskeratosis congenita 5
Disease Ontology Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.
Synonyms: DKCB5,
Echinobase Genes :
MIM:615190 - dyskeratosis congenita, autosomal recessive, 5; dkcb5 dyskeratosis congenita, autosomal dominant, 4, included; dkca4, included |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee