Preferred Name |
hemoglobin H disease |
|
Synonyms |
alpha-thalassemia intermedia |
|
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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0110031 |
|
database_cross_reference |
ICD10CM:D56.0 OMIM:613978 ORDO:93616 |
|
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. |
|
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 |
|
subClassOf |