autosomal dominant dyskeratosis congenita 1 Disease Ontology Browser

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Disease Ontology Browser

autosomal dominant dyskeratosis congenita 1 (DOID:0070014)
Alliance: disease page
Synonyms: DKCA1; Dyskeratosis Congenita, Scoggins Type
Alt IDs: OMIM:127550
Definition: A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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