loading...| Preferred Name | hyperinsulinemic hypoglycemia, familial, 2 | |
| Synonyms |
hyperinsulinemic hypoglycemia familial 2 hyperinsulinism, neonatal hyperinsulinism, familial persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia, persistent hyperinsulinism, congenital hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia nesidioblastosis HHF2 hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11 KCNJ11 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic hypoglycemia, familial, type 2 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency |
|
| Definitions |
Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0011153 |
|
| database_cross_reference |
DOID:0070218 UMLS:C2931833 OMIM:601820 MEDGEN:419173 GARD:9927 |
|
| definition |
Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C2931833 http://identifiers.org/medgen/419173 |
|
| has_exact_synonym |
hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11 KCNJ11 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic hypoglycemia, familial, type 2 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency |
|
| has_related_synonym |
hyperinsulinemic hypoglycemia familial 2 hyperinsulinism, neonatal hyperinsulinism, familial persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia, persistent hyperinsulinism, congenital hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia nesidioblastosis HHF2 |
|
| id |
MONDO:0011153 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare |
|
| label |
hyperinsulinemic hypoglycemia, familial, 2 |
|
| notation |
MONDO:0011153 |
|
| preferred label |
hyperinsulinemic hypoglycemia, familial, 2 |
|
| prefLabel |
hyperinsulinemic hypoglycemia, familial, 2 |
|
| see also |
https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0011153 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0011153 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0011153 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0011153 | DOVES | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/601820 | OMIM | LOOM |