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Congenital Hyperinsulinism

http://purl.bioontology.org/ontology/MESH/D044903

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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Instance info

Synonyms

PHHI Hypoglycemia, Infancy Hyperinsulinemia Hypoglycemia, Hypoglycemias, Persistent Hyperinsulinemic, Hyperinsulinism, Neonatal, Persistent Hyperinsulinemic Hypoglycemia, Hyperinsulinisms, Neonatal, Hyperinsulinemia Hypoglycemia of Infancy, Hyperinsulinemic Hypoglycemias, Persistent, Hyperinsulinism, Congenital, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Familial Hyperinsulinemic Hypoglycemia 1, Kongenitaler Hyperinsulinismus (DE), Familial Hyperinsulinism, Hypoglycemias, PHHI, Frühkindliche persistierende Hyperinsulinämie-Hypoglykämie (DE), Persistent Hyperinsulinemic Hypoglycemias, Hypoglycemia, Persistent Hyperinsulinemic, Hyperinsulinism, Familial, Hyperinsulinemic Hypoglycemia, Persistent, Hyperinsulinisms, Congenital, Hyperinsulinemic Hypoglycemia, Familial, 1, Familial Hyperinsulinisms, Hyperinsulinisms, Familial, Hyperinsulinemic Hypoglycemia, Familial, 2, Hypoglycemia, PHHI, Congenital Hyperinsulinisms, Neonatal Hyperinsulinism, Persistierende Hyperinsulinämie-Hypoglykämie im Säuglingsalter (DE), Neonatal Hyperinsulinisms, Infancy Hyperinsulinemia Hypoglycemias, PHHI Hypoglycemias, Hypoglycemia, Hyperinsulinemic, of Infancy, Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia

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

20040101

D018528,D024661

2014(2004)

MDA

20030709

MMR

20130708

C18.452.394.968.250,C18.452.394.984.200,C16.614.200,C06.689.150

2014; see PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY 2004-2013

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/D018528,http://purl.bioontology.org/ontology/MESH/D024661

SIB

http://purl.bioontology.org/ontology/MESH/D013796,http://purl.bioontology.org/ontology/MESH/D010188,http://purl.bioontology.org/ontology/MESH/D014125,http://purl.bioontology.org/ontology/MESH/D007331,http://purl.bioontology.org/ontology/MESH/D009357,http://purl.bioontology.org/ontology/MESH/D007333,http://purl.bioontology.org/ontology/MESH/D010185,http://purl.bioontology.org/ontology/MESH/D007057,http://purl.bioontology.org/ontology/MESH/D010547,http://purl.bioontology.org/ontology/MESH/D011038,http://purl.bioontology.org/ontology/MESH/D000071074,http://purl.bioontology.org/ontology/MESH/D000652,http://purl.bioontology.org/ontology/MESH/D000751,http://purl.bioontology.org/ontology/MESH/D004899,http://purl.bioontology.org/ontology/MESH/D001720,http://purl.bioontology.org/ontology/MESH/D006958,http://purl.bioontology.org/ontology/MESH/D010190,http://purl.bioontology.org/ontology/MESH/D006554,http://purl.bioontology.org/ontology/MESH/D054098,http://purl.bioontology.org/ontology/MESH/D008471,http://purl.bioontology.org/ontology/MESH/D020936,http://purl.bioontology.org/ontology/MESH/D015223,http://purl.bioontology.org/ontology/MESH/D012593,http://purl.bioontology.org/ontology/MESH/D016511,http://purl.bioontology.org/ontology/MESH/D010195,http://purl.bioontology.org/ontology/MESH/D006871,http://purl.bioontology.org/ontology/MESH/D006475,http://purl.bioontology.org/ontology/MESH/D003085,http://purl.bioontology.org/ontology/MESH/D051556,http://purl.bioontology.org/ontology/MESH/D020331,http://purl.bioontology.org/ontology/MESH/D003550,http://purl.bioontology.org/ontology/MESH/D013590,http://purl.bioontology.org/ontology/MESH/D009878,http://purl.bioontology.org/ontology/MESH/D007235,http://purl.bioontology.org/ontology/MESH/D010181,http://purl.bioontology.org/ontology/MESH/D020417,http://purl.bioontology.org/ontology/MESH/D001238

TERMUI

T841395,T841396,T834020,T834022,T834021,T534661,T534660,T834017,T834019,T817729,T834018,T812533,T817726,T534618,T540441,T841397,T841398

GHR (2014),ORD (2010),OMIM (2013),NLM (2004),NLM (2013)

cui

C2931833,C3888018,C2931832

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Instance relations

Types

Class