Glucokinase-Associated Diabetes Mellitus

Preferred Label : Glucokinase-Associated Diabetes Mellitus;

NCIt related terms : Maturity-Onset Diabetes of the Young, Type 2; GCK-Associated Diabetes Mellitus; MODY2;

NCIt definition : Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.;

Détails

Origin ID

C129741;

UMLS CUI

C0342277;

Currated CISMeF NLP mapping
- Maturity onset diabetes of the young, type 2 (disorder) [SNOMED CT concept]
- Maturity-Onset diabetes of the young, type 2 [MeSH concept]
- Maturity-Onset diabetes of the young, type 2 [MeSH Supplementary Concept]
- Maturity-onset diabetes of the young, type 2 [OMIM Phenotype]
- maturity onset diabetes of the young type 2 [Disease (Nov.)]
- maturity-onset diabetes of the young type 2 [DO Concept]
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]
UMLS correspondences (same concept)
- Maturity onset diabetes of the young, type 2 (disorder) [SNOMED CT concept]
- Maturity-Onset diabetes of the young, type 2 [MeSH Supplementary Concept]
- Maturity-Onset diabetes of the young, type 2 [MeSH concept]
- Maturity-onset diabetes of the young, type 2 [OMIM Phenotype]
- maturity onset diabetes of the young type 2 [Disease (Nov.)]
- maturity-onset diabetes of the young type 2 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease 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]
- Endocrine System [NCIt concept]
- Islet of Langerhans [NCIt concept]
- Pancreas [NCIt concept]
disease_mapped_to_gene
- GCK Gene [NCIt concept]

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