loading...| Preferred Name | Congenital Hyperinsulinism [Disease/Finding] | |
| Synonyms |
Neonatal Hyperinsulinism PHHI Hypoglycemia Familial Hyperinsulinism Hyperinsulinism, Neonatal Hypoglycemia, Hyperinsulinemic, of Infancy Hyperinsulinism, Congenital Persistent Hyperinsulinemia Hypoglycemia of Infancy Hyperinsulinism, Familial Infancy Hyperinsulinemia Hypoglycemia Persistent Hyperinsulinemic Hypoglycemia Congenital Hyperinsulinism Hyperinsulinemia Hypoglycemia of Infancy Hyperinsulinemic Hypoglycemia, Persistent |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000011154 |
|
| altLabel |
Neonatal Hyperinsulinism PHHI Hypoglycemia Familial Hyperinsulinism Hyperinsulinism, Neonatal Hypoglycemia, Hyperinsulinemic, of Infancy Hyperinsulinism, Congenital Persistent Hyperinsulinemia Hypoglycemia of Infancy Hyperinsulinism, Familial Infancy Hyperinsulinemia Hypoglycemia Persistent Hyperinsulinemic Hypoglycemia Congenital Hyperinsulinism Hyperinsulinemia Hypoglycemia of Infancy Hyperinsulinemic Hypoglycemia, Persistent |
|
| cui |
C3888018 |
|
| MESH DEFINITION |
A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8). |
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| MESH DUI |
D044903 |
|
| MeSH name |
Congenital Hyperinsulinism |
|
| MESH UI |
M0446507 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000011154 |
|
| NUI |
N0000011154 |
|
| prefLabel |
Congenital Hyperinsulinism [Disease/Finding] |
|
| tui |
T047 |
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| subClassOf |