Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes

Preferred Label : Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes;

NCIt synonyms : MODY1;

NCIt related terms : HNF4a-Associated Monogenic Diabetes; Maturity-Onset Diabetes of the Young, Type 1;

NCIt definition : Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.;

Details

Origin ID

C129744;

UMLS CUI

C1852093;

Currated CISMeF NLP mapping
- Maturity onset diabetes of the young, type 1 (disorder) [SNOMED CT concept]
- Maturity-Onset diabetes of the young, type 1 [MeSH concept]
- Maturity-Onset diabetes of the young, type 1 [MeSH Supplementary Concept]
- Maturity-onset diabetes of the young, type 1 [OMIM Phenotype]
- maturity onset diabetes of the young type 1 [Disease (Nov.)]
- maturity-onset diabetes of the young type 1 [DO Concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maturity onset diabetes of the young, type 1 (disorder) [SNOMED CT concept]
- Maturity-Onset diabetes of the young, type 1 [MeSH Supplementary Concept]
- Maturity-Onset diabetes of the young, type 1 [MeSH concept]
- Maturity-onset diabetes of the young, type 1 [OMIM Phenotype]
- maturity onset diabetes of the young type 1 [Disease (Nov.)]
- maturity-onset diabetes of the young type 1 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- 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
- HNF4A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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