| Metadata | |
|---|---|
| ID | DOID:0110031 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110031 Copy |
| Name | hemoglobin H disease |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12393486 |
| Xrefs |
SNOMEDCT_US_2026_03_01:48553001 |
| SKOS |
exactMatch MIM:613978 exactMatch NCI:C95504 exactMatch ORDO:93616 exactMatch UMLS_CUI:C3161174 |
| Subsets |
DO_rare_slim |
| Synonyms |
alpha thalassemia, haemoglobin H type [EXACT] alpha thalassemia, hemoglobin H type [EXACT] alpha-thalassemia intermedia [EXACT] haemoglobin H disease [EXACT] haemoglobin H disease, deletional [EXACT] HBH [EXACT] hemoglobin H disease, deletional [EXACT] |
| Parent Relationships |
is_a alpha thalassemia |