loading...| Preferred Name |
hemoglobin H disease |
|
| Synonyms |
alpha-thalassemia intermedia |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0110031 |
|
| database_cross_reference |
ICD10CM:D56.0 OMIM:613978 ORDO:93616 |
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| has exact synonym |
alpha-thalassemia intermedia haemoglobin H disease, deletional alpha thalassemia, hemoglobin H type alpha thalassemia, haemoglobin H type hemoglobin H disease, deletional HBH haemoglobin H disease |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0110031 |
|
| in_subset | ||
| label |
hemoglobin H disease |
|
| notation |
DOID:0110031 |
|
| prefLabel |
hemoglobin H disease |
|
| textual definition |
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. |
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| subClassOf |