Neurogenic Differentiation Factor 1-Associated Monogenic Diabetes

Preferred Label : Neurogenic Differentiation Factor 1-Associated Monogenic Diabetes;

NCIt synonyms : MODY6;

NCIt related terms : Maturity Onset Diabetes of the Young, Type 6; NEUROD1-Associated Monogenic Diabetes;

Alternative definition : NICHD: Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.;

Détails

Origin ID

C129745;

UMLS CUI

C1853371;

Currated CISMeF NLP mapping
- MODY 6 syndrome [ICD-11 More detail]
- MODY, type 6 [MeSH Supplementary Concept]
- MODY, type 6 [MeSH concept]
- Maturity-onset diabetes of the young, type 6 [OMIM Phenotype]
- Maturity-onset diabetes of the young, type 6 (disorder) [SNOMED CT concept]
- maturity onset diabetes of the young type 6 [Disease (Nov.)]
- maturity-onset diabetes of the young type 6 [DO Concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
- Pancreas [NCIt concept]
See also inter- (CISMeF)
- neuronal differentiation 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MODY, type 6 [MeSH Supplementary Concept]
- MODY, type 6 [MeSH concept]
- Maturity-onset diabetes of the young, type 6 [OMIM Phenotype]
- Maturity-onset diabetes of the young, type 6 (disorder) [SNOMED CT concept]
- maturity onset diabetes of the young type 6 [Disease (Nov.)]
- maturity-onset diabetes of the young type 6 [DO Concept]
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
- NEUROD1 Gene [NCIt concept]

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