Disease

Revesz syndrome

Name: Revesz syndrome
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070026 Revesz syndrome A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. DKCA5 Dyskeratosis Congenita, Autosomal Dominant 5 exudative retinopathy with bone marrow failure

Definition

A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12.

Synonyms

DKCA5
Dyskeratosis Congenita, Autosomal Dominant 5

Cross References

GARD:4695
MIM:268130

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

No data available

Associated Models

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