loading...| Preferred Name |
maturity-onset diabetes of the young type 2 |
| Synonyms |
MODY, type 2 GCK maturity-onset diabetes of the young (disease) GCK-associated diabetes mellitus MODY type 2 maturity-onset diabetes of the young, type 2 MODY, type II MODY glucokinase-related glucokinase-associated diabetes mellitus maturity onset diabetes of the Young, type 2 MODY 2 monogenic diabetes type 2 MODY, glucokinase-related MODY2 diabetes mellitus MODY type 2 type 2 maturity-onset diabetes of the young maturity-onset diabetes of the young (disease) caused by mutation in GCK |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0007453 |
| database_cross_reference |
DOID:0111100 GARD:0010657 NCIT:C129741 OMIM:125851 SCTID:237604008 UMLS:C0085207 |
| 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. |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0111100 |
| has_exact_synonym |
GCK maturity-onset diabetes of the young (disease) GCK-associated diabetes mellitus MODY type 2 MODY, type II MODY glucokinase-related glucokinase-associated diabetes mellitus maturity onset diabetes of the Young, type 2 MODY 2 monogenic diabetes type 2 MODY2 maturity-onset diabetes of the young (disease) caused by mutation in GCK |
| has_related_synonym |
MODY, type 2 maturity-onset diabetes of the young, type 2 MODY, glucokinase-related diabetes mellitus MODY type 2 type 2 maturity-onset diabetes of the young |
| IAO_0000233 | |
| id |
MONDO:0007453 |
| in_subset | |
| label |
maturity-onset diabetes of the young type 2 |
| notation |
MONDO:0007453 |
| prefLabel |
maturity-onset diabetes of the young type 2 |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/10657/maturity-onset-diabetes-of-the-young-type-2 |
| treeView | |
| subClassOf |