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DO Term : autosomal dominant dyskeratosis congenita 1 [DOID:0070014] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.

synonyms:
OMIM:127550,
Dyskeratosis Congenita, Scoggins Type,
DKCA1,
127550

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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