Hepatocyte Nuclear Factor 4-Alpha Hyperinsulinism

Preferred Label : Hepatocyte Nuclear Factor 4-Alpha Hyperinsulinism;

NCIt related terms : HNF4A-Associated Hyperinsulinism;

Alternative definition : NICHD: Hyperinsulinism due to mutation(s) in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4-alpha. This condition may progress to diabetes later in life.;

NCI Metathesaurus CUI : CL514652;

Détails

Origin ID

C131834;

UMLS CUI

C4330256;

Has associated anatomic sites
- Digestive System [NCIt concept]
- Endocrine Gland [NCIt concept]
- Endocrine 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]
- Endocrine System [NCIt concept]
- Islet of Langerhans [NCIt concept]
- Pancreas [NCIt concept]
disease_mapped_to_gene
- HNF4A Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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