Hemoglobin Lepore Syndrome

Preferred Label : Hemoglobin Lepore Syndrome;

NCIt definition : A beta thalassemia resulting from an unequal crossover/recombination event involving portions of the delta and beta globin genes, resulting in underproduction of the abnormal delta-beta globin.;

NCI Metathesaurus CUI : CL539454;

Details

Origin ID

C141366;

UMLS CUI

C4683758;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- HBB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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