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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:hemoglobin H disease
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Accession:DOID:0110031 term browser browse the term
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. (DO)
Synonyms:exact_synonym: HBH;   Hb H disease;   alpha thalassemia, haemoglobin H type;   alpha thalassemia, hemoglobin H type;   alpha-thalassemia intermedia;   haemoglobin H disease;   haemoglobin H disease, deletional;   hemoglobin H disease, deletional;   hemoglobin H disease, nondeletional
 primary_id: OMIM:613978
 alt_id: RDO:9002641
 xref: ORDO:93616
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
hemoglobin H disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar
PMID:8237999 PMID:9029003 PMID:10569720 PMID:19636270 PMID:20147853 More... NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar
PMID:1281602 PMID:1581238 PMID:1634361 PMID:2298455 PMID:2372512 More... NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital hemolytic anemia 176
        thalassemia 102
          alpha thalassemia 69
            hemoglobin H disease 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          anemia 637
            normocytic anemia 223
              hemolytic anemia 223
                congenital hemolytic anemia 176
                  hemoglobinopathy 133
                    thalassemia 102
                      alpha thalassemia 69
                        hemoglobin H disease 2
paths to the root