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DO Term : X-linked dyserythropoietic anemia [DOID:0112156] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen.

synonyms:
ORDO:363727,
300835,
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,
X-linked anemia with/without neutropenia and/or platelet abnormalities,
OMIM:300835

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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