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DO Term : Revesz syndrome [DOID:0070026] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
OMIM:268130,
DKCA5,
exudative retinopathy with bone marrow failure,
Dyskeratosis Congenita, Autosomal Dominant 5,
GARD:4695,
268130

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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