Hemoglobin H - CISMeF

Preferred Label : Hemoglobin H;

NCIt synonyms : HbH; Hb H; Hgb H;

NCIt definition : A homotetrameric complex comprised of 4 molecules of hemoglobin subunit beta. The formation of this complex is associated with insufficent production of hemoglobin subunit alpha, which is the result of loss of function mutations in or gene deletions of at least three copies of the hemoglobin alpha (HBA) genes, HBA1 and HBA2.;

Details

Origin ID

C185499;

UMLS CUI

C0019026;

Automatic exact mappings (from CISMeF team)
- HbH hemoglobin [HPO term]
- Hemoglobin H [LOINC component]
- Hemoglobin H [PASCAL descriptor]
- Hemoglobin H (substance) [SNOMED CT concept]
- hemoglobin H [MeSH Descriptor]
- hemoglobin H [MeSH concept]
- hemoglobin h [SNOMED Notion]
- hemoglobin h [Substance BNPC]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- HbH hemoglobin [HPO term]
- Hemoglobin H [LOINC component]
- Hemoglobin H (substance) [SNOMED CT concept]
- hemoglobin H [MeSH Descriptor]
- hemoglobin H [MeSH concept]
- hemoglobin h [Substance BNPC]
- hemoglobin h [SNOMED Notion]
gene_encodes_gene_product
- Globin Gene [NCIt concept]
gene_product_expressed_in_tissue
- Erythrocyte [NCIt concept]
gene_product_plays_role_in_biological_process
- Transport Process [NCIt concept]
has_gene_product_element
- Hemoglobin Subunit Beta [NCIt concept]
related_to_genetic_biomarker
- HBB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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