Disease

autosomal dominant dyskeratosis congenita 1

Name: autosomal dominant dyskeratosis congenita 1
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070014 autosomal dominant dyskeratosis congenita 1 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. Dyskeratosis Congenita, Scoggins Type DKCA1

Definition

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

Synonyms

DKCA1
Dyskeratosis Congenita, Scoggins Type

Cross References

MIM:127550

Parent Terms

autosomal dominant disease
dyskeratosis congenita

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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