loading...| Preferred Name |
Congenital Hyperinsulinism |
| Synonyms |
Hyperinsulinisms, Familial |
| Definitions |
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). |
| ID |
http://purl.bioontology.org/ontology/MESH/D044903 |
| altLabel |
Hyperinsulinisms, Familial PHHI Hypoglycemia Persistent Hyperinsulinemic Hypoglycemias Congenital Hyperinsulinisms Hyperinsulinism, Congenital Infancy Hyperinsulinemia Hypoglycemia Persistent Hyperinsulinemic Hypoglycemia Hypoglycemia, Persistent Hyperinsulinemic Familial Hyperinsulinemic Hypoglycemia 1 Persistent Hyperinsulinemia Hypoglycemia of Infancy Hyperinsulinisms, Congenital Hypoglycemia, PHHI Hypoglycemia, Hyperinsulinemic, of Infancy Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia Familial Hyperinsulinism Neonatal Hyperinsulinism Hyperinsulinism, Neonatal PHHI Hypoglycemias Hyperinsulinemic Hypoglycemia, Persistent Hypoglycemias, Persistent Hyperinsulinemic Familial Hyperinsulinisms Hyperinsulinemia Hypoglycemia of Infancy Hyperinsulinisms, Neonatal Infancy Hyperinsulinemia Hypoglycemias Neonatal Hyperinsulinisms Hyperinsulinism, Familial Hypoglycemias, PHHI Hyperinsulinemic Hypoglycemia, Familial, 1 Hyperinsulinemic Hypoglycemia, Familial, 2 Hyperinsulinemic Hypoglycemias, Persistent |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C2931832 C3888018 C2931833 |
| DC |
1 |
| 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). |
| DX |
20040101 |
| FX |
D024661 D018528 |
| HN |
2014(2004) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
2014; see PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY 2004-2013 |
| MDA |
20030709 |
| MMR |
20130708 |
| MN |
C18.452.394.968.250 C18.452.394.984.200 C16.614.200 C06.689.150 |
| notation |
D044903 |
| prefLabel |
Congenital Hyperinsulinism |
| TERMUI |
T841397 T534660 T534618 T841395 T540441 T834018 T834021 T817726 T834020 T534661 T812533 T834017 T841396 T834019 T841398 T817729 T834022 |
| TH |
NLM (2013) NLM (2004) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D007003 http://purl.bioontology.org/ontology/MESH/D010182 |