Maturity Onset Diabetes of the Young Pathway

Preferred Label : Maturity Onset Diabetes of the Young Pathway;

NCIt synonyms : Type II Diabetes Mellitus in Young Patients Pathway; MODY Pathway;

NCIt related terms : MODY; Maturity onset diabetes of the young;

Alternative definition : KEGG: About 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MODY).;

KEGG ID : hsa04950;

Details

Origin ID

C91449;

UMLS CUI

C2984262;

Automatic exact mappings (from CISMeF team)
- 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]
- diabetes mellitus, type 2 [MeSH Descriptor]
- hepatocyte nuclear factor 4 alpha [ORDO Gene]
- maturity-onset diabetes of the young [DO Concept]
- temperance [MeSH Descriptor]
Semantic type(s)
- Functional Concept [UMLS semantic type]
has_gene_product_element
- Hematopoietically-Expressed Homeobox Protein HHEX [NCIt concept]
- Hepatocyte Nuclear Factor 1-Alpha [NCIt concept]
- Hepatocyte Nuclear Factor 1-Beta [NCIt concept]
- Hepatocyte Nuclear Factor 3-Beta [NCIt concept]
- Hepatocyte Nuclear Factor 3-Gamma [NCIt concept]
- Hepatocyte Nuclear Factor 4-Alpha [NCIt concept]
- Hexokinase-4 [NCIt concept]
- Islet Amyloid Polypeptide [NCIt concept]
- Motor Neuron and Pancreas Homeobox Protein 1 [NCIt concept]
- Neurogenic Differentiation Factor 1 [NCIt concept]
- Nuclear Receptor Subfamily 5 Group A Member 2 [NCIt concept]
- Paired Box Protein Pax-6 [NCIt concept]
- Pancreas/Duodenum Homeobox Protein 1 [NCIt concept]
- Pyruvate Kinase PKLR [NCIt concept]
- Pyruvate Kinase PKLR Isoform L-Type [NCIt concept]
- Solute Carrier Family 2, Facilitated Glucose Transporter Member 2 [NCIt concept]
- Transcription Factor HES-1 [NCIt concept]
- Transcription Factor MafA [NCIt concept]
pathway_has_gene_element
- FOXA2 wt Allele [NCIt concept]
- FOXA3 wt Allele [NCIt concept]
- GCK wt Allele [NCIt concept]
- HES1 wt Allele [NCIt concept]
- HHEX wt Allele [NCIt concept]
- HNF1A wt Allele [NCIt concept]
- HNF1B wt Allele [NCIt concept]
- HNF4A wt Allele [NCIt concept]
- IAPP wt Allele [NCIt concept]
- MAFA wt Allele [NCIt concept]
- MNX1 wt Allele [NCIt concept]
- NEUROD1 wt Allele [NCIt concept]
- NR5A2 wt Allele [NCIt concept]
- PAX6 wt Allele [NCIt concept]
- PDX1 wt Allele [NCIt concept]
- PKLR wt Allele [NCIt concept]
- SLC2A2 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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