PDX1-Associated Monogenic Diabetes

Preferred Label : PDX1-Associated Monogenic Diabetes;

NCIt synonyms : MODY4;

NCIt related terms : Maturity Onset Diabetes of the Young, Type 4;

NCIt definition : Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.;

Details

Origin ID

C129746;

UMLS CUI

C1833382;

Currated CISMeF NLP mapping
- MODY 4 syndrome [ICD-11 More detail]
- Maturity-Onset diabetes of the young, type 4 [MeSH concept]
- Maturity-Onset diabetes of the young, type 4 [MeSH Supplementary Concept]
- Maturity-onset diabetes of the young, type 4 [OMIM Phenotype]
- Maturity-onset diabetes of the young, type 4 (disorder) [SNOMED CT concept]
- maturity onset diabetes of the young type 4 [Disease (Nov.)]
- maturity-onset diabetes of the young type 4 [DO Concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
See also inter- (CISMeF)
- pancreatic and duodenal homeobox 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maturity-Onset diabetes of the young, type 4 [MeSH Supplementary Concept]
- Maturity-Onset diabetes of the young, type 4 [MeSH concept]
- Maturity-onset diabetes of the young, type 4 [OMIM Phenotype]
- Maturity-onset diabetes of the young, type 4 (disorder) [SNOMED CT concept]
- maturity onset diabetes of the young type 4 [Disease (Nov.)]
- maturity-onset diabetes of the young type 4 [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
- PDX1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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