Erythrocyte Adenylate Kinase Deficiency

Preferred Label : Erythrocyte Adenylate Kinase Deficiency;

NCIt related terms : Red Cell Adenylate Kinase Deficiency;

Alternative definition : NICHD: An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment.;

Details

Origin ID

C131640;

UMLS CUI

C3278252;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
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
- AK1 Gene [NCIt concept]

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