Bisphosphoglycerate Mutase Deficiency

Preferred Label : Bisphosphoglycerate Mutase Deficiency;

NCIt related terms : Diphosphoglycerate Phosphatase Deficiency;

Alternative definition : NICHD: A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.;

Details

Origin ID

C131638;

UMLS CUI

C1291620;

Currated CISMeF NLP mapping
- Deficiency of bisphosphoglycerate mutase (disorder) [SNOMED CT concept]
- Erythrocytosis, familial, 8 [OMIM Phenotype]
- familial erythrocytosis 8 [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of bisphosphoglycerate mutase (disorder) [SNOMED CT concept]
- Erythrocytosis, familial, 8 [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology 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
- BPGM Gene [NCIt concept]

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