Monogenic Diabetes

Preferred Label : Monogenic Diabetes;

NCIt related terms : Maturity Onset Diabetes of the Young; MODY;

NCIt definition : Diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood.;

Details

Origin ID

C129739;

UMLS CUI

C3888631;

Automatic exact mappings (from CISMeF team)
- diabetes mellitus, type 2 [MeSH Descriptor]
- hepatocyte nuclear factor 4 alpha [ORDO Gene]
Currated CISMeF NLP mapping
- MODY [ORDO Disease]
- Mason-Type diabetes [MeSH Supplementary Concept]
- Maturity onset diabetes of the young [PASCAL descriptor]
- Maturity-onset diabetes of the young [HPO term]
- Maturity-onset diabetes of the young [OMIM Phenotype]
- Maturity-onset diabetes of the young [MedDRA LLT]
- Maturity-onset diabetes of the young (disorder) [SNOMED CT concept]
- Monogenic diabetes [MedDRA Preferred Term]
- maturity-onset diabetes of the young [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)
- Monogenic diabetes [MedDRA Preferred Term]
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]

Keyword's position in hierarchy(ies) :

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