Kir6.2-Associated Diabetes Mellitus

Preferred Label : Kir6.2-Associated Diabetes Mellitus;

Alternative definition : NICHD: Diabetes mellitus caused by activating mutation(s) in the KCNJ11 gene, encoding the inwardly rectifying Kir6.2 subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the KCNJ11 gene result in hyperinsulinism.;

NCI Metathesaurus CUI : CL512873;

Details

Origin ID

C129760;

UMLS CUI

C4330524;

Has associated anatomic sites
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_cell_origin
- Islet Cell [NCIt concept]
disease_has_normal_tissue_origin
- Islet of Langerhans [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]
- Islet of Langerhans [NCIt concept]
disease_mapped_to_gene
- KCNJ11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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