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loading...| Preferred Name |
Maturity-Onset Diabetes of the Young |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114769 |
| code |
C114769 |
| DEFINITION |
A rare autosomal dominant form of diabetes mellitus affecting young people with a positive family history. MODY is a form of monogenic diabetes, resulting from mutations in a single gene. The most common forms are HNF1alpha-MODY (MODY3) and GCK-MODY (MODY2), due to mutations in the HNF1A and GCK genes, respectively. |
| FULL_SYN |
MODY Maturity Onset Diabetes of the Young |
| label |
Maturity-Onset Diabetes of the Young |
| Preferred_Name |
Maturity-Onset Diabetes of the Young |
| prefixIRI |
C114769 |
| prefLabel |
Maturity-Onset Diabetes of the Young |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0342276 |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0050524 | Human Disease Ontology 123 | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/606391 | Online Mendelian Inheritance in Man | LOOM |