Hemoglobin--beta locus

Preferred Label : Hemoglobin--beta locus;

Symbol : HBB;

CISMeF acronym : HBB;

Type : Gene;

Inheritance : Autosomal dominant for some such as methemoglobinemia, polycythemia, and Heinz body hemolytic anemia; Autosomal recessive for others such as sickle cell disease and thalassemia major;

Ensembl ID : ENSG00000244734;

Prefixed ID : *141900;

Details

Origin ID

141900;

UMLS CUI

C1415481;

Automatic exact mappings (from CISMeF team)
- HBB Gene [NCIt concept]
- HBB gene [LOINC component]
- HBB wt Allele [NCIt concept]
- Hemoglobin Subunit Beta [NCIt concept]
- hemoglobin subunit beta [HGNC gene]
- hemoglobin subunit beta [ORDO Gene]
HGNC gene
- hemoglobin subunit beta [HGNC gene]
Phenotypes related
- Beta-thalassemia [OMIM Phenotype]
- Beta-thalassemia, dominant inclusion body type [OMIM Phenotype]
- Erythrocytosis, familial, 6 [OMIM Phenotype]
- Fetal hemoglobin quantitative trait locus 1 [OMIM Phenotype]
- Heinz body anemias [OMIM Phenotype]
- Malaria, susceptibility to [OMIM Phenotype]
- Methemoglobinemia, beta type [OMIM Phenotype]
- Sickle cell disease [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HBB Gene [NCIt concept]
- HBB gene [LOINC component]
- hemoglobin subunit beta [ORDO Gene]
- hemoglobin subunit beta [HGNC gene]

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