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DO Term : chromosome 5q deletion syndrome [DOID:0090016] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q.

synonyms:
GARD:10840,
153550,
OMIM:153550,
myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,
5q- syndrome, refractory macrocytic anemia due to 5q deletion,
ICD10CM:D46.7,
MESH:C535323,
ORDO:86841

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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