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DO Term : hemoglobin H disease [DOID:0110031] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.

synonyms:
613978,
ORDO:93616,
alpha thalassemia, haemoglobin H type,
HBH,
alpha-thalassemia intermedia,
hemoglobin H disease, deletional,
ICD10CM:D56.0,
OMIM:613978,
haemoglobin H disease,
haemoglobin H disease, deletional,
alpha thalassemia, hemoglobin H type

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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