Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of higher mental function (HP:0011446)help
Parent Node:
expand
Reduced consciousness/confusion (HP:0004372)help
..Starting node
..expand
Coma (HP:0001259)help
Term ID: 1259
Name: Coma
Synonym: Coma
Definition: Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Comments:
Reference: HP:0001259
Genes and Diseases:
 
       Child Nodes:
........expandHypoglycemic coma (HP:0001325) help

 Sister Nodes: 
..expandConfusion (HP:0001289) help
..expandDrowsiness (HP:0002329) help
..expandEpisodic hypersomnia (HP:0007200) help
..expandExcessive daytime somnolence (HP:0001262) help
..expandFluctuations in consciousness (HP:0007159) help
..expandLethargy (HP:0001254) help
..expandLoss of consciousness (HP:0007185) help
..expandobsolete Excessive daytime sleepiness (HP:0002189) help
..expandVegetative state (HP:0031358) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001259HP:0001259Coma0ABCC8 CL E G H6833276575ORPHA1125359600509
HP:0001259HP:0001259Coma0ABCC8 CL E G H6833276575ORPHA1112559600509
HP:0001259HP:0001259Coma0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1125359600509
HP:0001259HP:0001259Coma0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1112559600509
HP:0001259HP:0001259Coma0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0001259HP:0001259Coma0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0001259HP:0001259Coma0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1330417612724
HP:0001259HP:0001259Coma0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1316417612724
HP:0001259HP:0001259Coma0APP CL E G H351324703ORPHA1364620104760
HP:0001259HP:0001259Coma0APP CL E G H351324713ORPHA1364620104760
HP:0001259HP:0001259Coma0APP CL E G H351324703ORPHA1320620104760
HP:0001259HP:0001259Coma0APP CL E G H351324713ORPHA1320620104760
HP:0001259HP:0001259Coma0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1469746608310
HP:0001259HP:0001259Coma0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1423746608310
HP:0001259HP:0001259Coma0ASPA CL E G H443314911ORPHA1281756608034
HP:0001259HP:0001259Coma0ASPA CL E G H443314911ORPHA1245756608034
HP:0001259HP:0001259Coma0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1517758603470
HP:0001259HP:0001259Coma0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1481758603470
HP:0001259HP:0001259Coma0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1801800182340
HP:0001259HP:0001259Coma0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1726800182340
HP:0001259HP:0001259Coma0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11579870606882
HP:0001259HP:0001259Coma0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11389870606882
HP:0001259HP:0001259Coma0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1413986608348
HP:0001259HP:0001259Coma0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1384986608348
HP:0001259HP:0001259Coma0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1478987248611
HP:0001259HP:0001259Coma0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1448987248611
HP:0001259HP:0001259Coma0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM123261388601011
HP:0001259HP:0001259Coma0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM120471388601011
HP:0001259HP:0001259Coma0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM19102323608307
HP:0001259HP:0001259Coma0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM18142323608307
HP:0001259HP:0001259Coma0CPT1A CL E G H1374156ORPHA15032328600528
HP:0001259HP:0001259Coma0CPT1A CL E G H1374156ORPHA14522328600528
HP:0001259HP:0001259Coma0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0001259HP:0001259Coma0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0001259HP:0001259Coma0CPT2 CL E G H1376228308ORPHA16182330600650
HP:0001259HP:0001259Coma0CPT2 CL E G H1376228308ORPHA15052330600650
HP:0001259HP:0001259Coma0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15112698248610
HP:0001259HP:0001259Coma0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM14672698248610
HP:0001259HP:0001259Coma0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11793606611570
HP:0001259HP:0001259Coma0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11703606611570
HP:0001259HP:0001259Coma0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0001259HP:0001259Coma0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0001259HP:0001259Coma0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM16234976609018
HP:0001259HP:0001259Coma0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM15814976609018
HP:0001259HP:0001259Coma0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM12815005613898
HP:0001259HP:0001259Coma0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM12445005613898
HP:0001259HP:0001259Coma0HNF1A CL E G H6927324575ORPHA152911621142410
HP:0001259HP:0001259Coma0HNF1A CL E G H6927324575ORPHA145211621142410
HP:0001259HP:0001259Coma0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA14035024600281
HP:0001259HP:0001259Coma0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA13635024600281
HP:0001259HP:0001259Coma0IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM14156186607036
HP:0001259HP:0001259Coma0IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM13806186607036
HP:0001259HP:0001259Coma0KCNJ11 CL E G H3767276580ORPHA13226257600937
HP:0001259HP:0001259Coma0KCNJ11 CL E G H3767276580ORPHA13016257600937
HP:0001259HP:0001259Coma0KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1546469605197
HP:0001259HP:0001259Coma0KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1496469605197
HP:0001259HP:0001259Coma0MC2R CL E G H4158202200ACTH resistance202200C4049650OMIM12346930607397
HP:0001259HP:0001259Coma0MC2R CL E G H4158202200ACTH resistance202200C4049650OMIM12326930607397
HP:0001259HP:0001259Coma0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM15226936609010
HP:0001259HP:0001259Coma0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM14356936609010
HP:0001259HP:0001259Coma0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM14796937609014
HP:0001259HP:0001259Coma0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM14106937609014
HP:0001259HP:0001259Coma0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM135918871607481
HP:0001259HP:0001259Coma0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM133518871607481
HP:0001259HP:0001259Coma0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM137519331607568
HP:0001259HP:0001259Coma0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM135719331607568
HP:0001259HP:0001259Coma0MMUT CL E G H459479312ORPHA16847526609058
HP:0001259HP:0001259Coma0MMUT CL E G H4594289916ORPHA16847526609058
HP:0001259HP:0001259Coma0MMUT CL E G H459479312ORPHA16117526609058
HP:0001259HP:0001259Coma0MMUT CL E G H4594289916ORPHA16117526609058
HP:0001259HP:0001259Coma0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM16847526609058
HP:0001259HP:0001259Coma0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM16117526609058
HP:0001259HP:0001259Coma0NAGS CL E G H162417237310Hyperammonemia, type III237310C0268543OMIM127217996608300
HP:0001259HP:0001259Coma0NAGS CL E G H162417237310Hyperammonemia, type III237310C0268543OMIM123717996608300
HP:0001259HP:0001259Coma0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM19118453608862
HP:0001259HP:0001259Coma0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM16118453608862
HP:0001259HP:0001259Coma0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0001259HP:0001259Coma0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0001259HP:0001259Coma0NOTCH3 CL E G H4854136ORPHA19467883600276
HP:0001259HP:0001259Coma0NOTCH3 CL E G H4854136ORPHA18607883600276
HP:0001259HP:0001259Coma0OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM17768512300461
HP:0001259HP:0001259Coma0OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM17418512300461
HP:0001259HP:0001259Coma0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17498653232000
HP:0001259HP:0001259Coma0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16068653232000
HP:0001259HP:0001259Coma0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16188654232050
HP:0001259HP:0001259Coma0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM14808654232050
HP:0001259HP:0001259Coma0POLG CL E G H5428726ORPHA117129179174763
HP:0001259HP:0001259Coma0POLG CL E G H5428726ORPHA114709179174763
HP:0001259HP:0001259Coma0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM13549360170280
HP:0001259HP:0001259Coma0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM12949360170280
HP:0001259HP:0001259Coma0RANBP2 CL E G H590388619ORPHA17769848601181
HP:0001259HP:0001259Coma0RANBP2 CL E G H590388619ORPHA17039848601181
HP:0001259HP:0001259Coma0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM146116266606152
HP:0001259HP:0001259Coma0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM140016266606152
HP:0001259HP:0001259Coma0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM173310969603377
HP:0001259HP:0001259Coma0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM162610969603377
HP:0001259HP:0001259Coma0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM145110983603859
HP:0001259HP:0001259Coma0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM139310983603859
HP:0001259HP:0001259Coma0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM130410985603861
HP:0001259HP:0001259Coma0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM128210985603861
HP:0001259HP:0001259Coma0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM11341421613698
HP:0001259HP:0001259Coma0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM11181421613698
HP:0001259HP:0001259Coma0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM146611065603593
HP:0001259HP:0001259Coma0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM140611065603593
HP:0001259HP:0001259Coma0TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM174212261603283
HP:0001259HP:0001259Coma0TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM161912261603283
HP:0001259HP:0001259Coma0UCP2 CL E G H7351276556ORPHA14812518601693
HP:0001259HP:0001259Coma0UCP2 CL E G H7351276556ORPHA13912518601693
HP:0001259HP:0001325Hypoglycemic coma1ABCC8 CL E G H6833276575ORPHA1125359600509
HP:0001259HP:0001325Hypoglycemic coma1ABCC8 CL E G H6833276575ORPHA1112559600509
HP:0001259HP:0001325Hypoglycemic coma1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1125359600509
HP:0001259HP:0001325Hypoglycemic coma1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1112559600509
HP:0001259HP:0001325Hypoglycemic coma1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM155989607008
HP:0001259HP:0001325Hypoglycemic coma1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM149189607008
HP:0001259HP:0001325Hypoglycemic coma1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1330417612724
HP:0001259HP:0001325Hypoglycemic coma1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1316417612724
HP:0001259HP:0001325Hypoglycemic coma1APP CL E G H351324713ORPHA1364620104760
HP:0001259HP:0001325Hypoglycemic coma1APP CL E G H351324703ORPHA1364620104760
HP:0001259HP:0001325Hypoglycemic coma1APP CL E G H351324713ORPHA1320620104760
HP:0001259HP:0001325Hypoglycemic coma1APP CL E G H351324703ORPHA1320620104760
HP:0001259HP:0001325Hypoglycemic coma1ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1469746608310
HP:0001259HP:0001325Hypoglycemic coma1ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1423746608310
HP:0001259HP:0001325Hypoglycemic coma1ASPA CL E G H443314911ORPHA1281756608034
HP:0001259HP:0001325Hypoglycemic coma1ASPA CL E G H443314911ORPHA1245756608034
HP:0001259HP:0001325Hypoglycemic coma1ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1517758603470
HP:0001259HP:0001325Hypoglycemic coma1ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1481758603470
HP:0001259HP:0001325Hypoglycemic coma1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1801800182340
HP:0001259HP:0001325Hypoglycemic coma1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM1726800182340
HP:0001259HP:0001325Hypoglycemic coma1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11579870606882
HP:0001259HP:0001325Hypoglycemic coma1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11389870606882
HP:0001259HP:0001325Hypoglycemic coma1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1413986608348
HP:0001259HP:0001325Hypoglycemic coma1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1384986608348
HP:0001259HP:0001325Hypoglycemic coma1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1478987248611
HP:0001259HP:0001325Hypoglycemic coma1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1448987248611
HP:0001259HP:0001325Hypoglycemic coma1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM123261388601011
HP:0001259HP:0001325Hypoglycemic coma1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM120471388601011
HP:0001259HP:0001325Hypoglycemic coma1CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM19102323608307
HP:0001259HP:0001325Hypoglycemic coma1CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM18142323608307
HP:0001259HP:0001325Hypoglycemic coma1CPT1A CL E G H1374156ORPHA15032328600528
HP:0001259HP:0001325Hypoglycemic coma1CPT1A CL E G H1374156ORPHA14522328600528
HP:0001259HP:0001325Hypoglycemic coma1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0001259HP:0001325Hypoglycemic coma1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0001259HP:0001325Hypoglycemic coma1CPT2 CL E G H1376228308ORPHA16182330600650
HP:0001259HP:0001325Hypoglycemic coma1CPT2 CL E G H1376228308ORPHA15052330600650
HP:0001259HP:0001325Hypoglycemic coma1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15112698248610
HP:0001259HP:0001325Hypoglycemic coma1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM14672698248610
HP:0001259HP:0001325Hypoglycemic coma1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11793606611570
HP:0001259HP:0001325Hypoglycemic coma1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11703606611570
HP:0001259HP:0001325Hypoglycemic coma1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0001259HP:0001325Hypoglycemic coma1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0001259HP:0001325Hypoglycemic coma1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM16234976609018
HP:0001259HP:0001325Hypoglycemic coma1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM15814976609018
HP:0001259HP:0001325Hypoglycemic coma1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM12815005613898
HP:0001259HP:0001325Hypoglycemic coma1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM12445005613898
HP:0001259HP:0001325Hypoglycemic coma1HNF1A CL E G H6927324575ORPHA152911621142410
HP:0001259HP:0001325Hypoglycemic coma1HNF1A CL E G H6927324575ORPHA145211621142410
HP:0001259HP:0001325Hypoglycemic coma1HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA14035024600281
HP:0001259HP:0001325Hypoglycemic coma1HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA13635024600281
HP:0001259HP:0001325Hypoglycemic coma1IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM14156186607036
HP:0001259HP:0001325Hypoglycemic coma1IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM13806186607036
HP:0001259HP:0001325Hypoglycemic coma1KCNJ11 CL E G H3767276580ORPHA13226257600937
HP:0001259HP:0001325Hypoglycemic coma1KCNJ11 CL E G H3767276580ORPHA13016257600937
HP:0001259HP:0001325Hypoglycemic coma1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1546469605197
HP:0001259HP:0001325Hypoglycemic coma1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM1496469605197
HP:0001259HP:0001325Hypoglycemic coma1MC2R CL E G H4158202200ACTH resistance202200C4049650OMIM12346930607397
HP:0001259HP:0001325Hypoglycemic coma1MC2R CL E G H4158202200ACTH resistance202200C4049650OMIM12326930607397
HP:0001259HP:0001325Hypoglycemic coma1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM15226936609010
HP:0001259HP:0001325Hypoglycemic coma1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM14356936609010
HP:0001259HP:0001325Hypoglycemic coma1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM14796937609014
HP:0001259HP:0001325Hypoglycemic coma1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM14106937609014
HP:0001259HP:0001325Hypoglycemic coma1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM135918871607481
HP:0001259HP:0001325Hypoglycemic coma1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM133518871607481
HP:0001259HP:0001325Hypoglycemic coma1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM137519331607568
HP:0001259HP:0001325Hypoglycemic coma1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM135719331607568
HP:0001259HP:0001325Hypoglycemic coma1MMUT CL E G H459479312ORPHA16847526609058
HP:0001259HP:0001325Hypoglycemic coma1MMUT CL E G H4594289916ORPHA16847526609058
HP:0001259HP:0001325Hypoglycemic coma1MMUT CL E G H459479312ORPHA16117526609058
HP:0001259HP:0001325Hypoglycemic coma1MMUT CL E G H4594289916ORPHA16117526609058
HP:0001259HP:0001325Hypoglycemic coma1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM16847526609058
HP:0001259HP:0001325Hypoglycemic coma1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM16117526609058
HP:0001259HP:0001325Hypoglycemic coma1NAGS CL E G H162417237310Hyperammonemia, type III237310C0268543OMIM127217996608300
HP:0001259HP:0001325Hypoglycemic coma1NAGS CL E G H162417237310Hyperammonemia, type III237310C0268543OMIM123717996608300
HP:0001259HP:0001325Hypoglycemic coma1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM19118453608862
HP:0001259HP:0001325Hypoglycemic coma1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM16118453608862
HP:0001259HP:0001325Hypoglycemic coma1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0001259HP:0001325Hypoglycemic coma1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0001259HP:0001325Hypoglycemic coma1NOTCH3 CL E G H4854136ORPHA19467883600276
HP:0001259HP:0001325Hypoglycemic coma1NOTCH3 CL E G H4854136ORPHA18607883600276
HP:0001259HP:0001325Hypoglycemic coma1OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM17768512300461
HP:0001259HP:0001325Hypoglycemic coma1OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM17418512300461
HP:0001259HP:0001325Hypoglycemic coma1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17498653232000
HP:0001259HP:0001325Hypoglycemic coma1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16068653232000
HP:0001259HP:0001325Hypoglycemic coma1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16188654232050
HP:0001259HP:0001325Hypoglycemic coma1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM14808654232050
HP:0001259HP:0001325Hypoglycemic coma1POLG CL E G H5428726ORPHA117129179174763
HP:0001259HP:0001325Hypoglycemic coma1POLG CL E G H5428726ORPHA114709179174763
HP:0001259HP:0001325Hypoglycemic coma1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM13549360170280
HP:0001259HP:0001325Hypoglycemic coma1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM12949360170280
HP:0001259HP:0001325Hypoglycemic coma1RANBP2 CL E G H590388619ORPHA17769848601181
HP:0001259HP:0001325Hypoglycemic coma1RANBP2 CL E G H590388619ORPHA17039848601181
HP:0001259HP:0001325Hypoglycemic coma1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM146116266606152
HP:0001259HP:0001325Hypoglycemic coma1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM140016266606152
HP:0001259HP:0001325Hypoglycemic coma1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM173310969603377
HP:0001259HP:0001325Hypoglycemic coma1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM162610969603377
HP:0001259HP:0001325Hypoglycemic coma1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM145110983603859
HP:0001259HP:0001325Hypoglycemic coma1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM139310983603859
HP:0001259HP:0001325Hypoglycemic coma1SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM130410985603861
HP:0001259HP:0001325Hypoglycemic coma1SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM128210985603861
HP:0001259HP:0001325Hypoglycemic coma1SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM11341421613698
HP:0001259HP:0001325Hypoglycemic coma1SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM11181421613698
HP:0001259HP:0001325Hypoglycemic coma1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM146611065603593
HP:0001259HP:0001325Hypoglycemic coma1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM140611065603593
HP:0001259HP:0001325Hypoglycemic coma1TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM174212261603283
HP:0001259HP:0001325Hypoglycemic coma1TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM161912261603283
HP:0001259HP:0001325Hypoglycemic coma1UCP2 CL E G H7351276556ORPHA14812518601693
HP:0001259HP:0001325Hypoglycemic coma1UCP2 CL E G H7351276556ORPHA13912518601693
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001259HP:0001259Coma0ABCC8 CL E G H683399885ORPHA0125359600509
HP:0001259HP:0001259Coma0ABCC8 CL E G H683399886ORPHA0125359600509
HP:0001259HP:0001259Coma0ABCC8 CL E G H683399886ORPHA0112559600509
HP:0001259HP:0001259Coma0ABCC8 CL E G H683399885ORPHA0112559600509
HP:0001259HP:0001259Coma0AUH CL E G H54967046ORPHA0177890600529
HP:0001259HP:0001259Coma0AUH CL E G H54967046ORPHA0145890600529
HP:0001259HP:0001259Coma0BRAF CL E G H67354595ORPHA06801097164757
HP:0001259HP:0001259Coma0BRAF CL E G H67354595ORPHA06181097164757
HP:0001259HP:0001259Coma0BTD CL E G H68679241ORPHA04091122609019
HP:0001259HP:0001259Coma0BTD CL E G H68679241ORPHA03661122609019
HP:0001259HP:0001259Coma0CTNNB1 CL E G H149954595ORPHA03642514116806
HP:0001259HP:0001259Coma0CTNNB1 CL E G H149954595ORPHA02692514116806
HP:0001259HP:0001259Coma0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA02963255604032
HP:0001259HP:0001259Coma0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA01783255604032
HP:0001259HP:0001259Coma0GCDH CL E G H263925ORPHA05214189608801
HP:0001259HP:0001259Coma0GCDH CL E G H263925ORPHA04684189608801
HP:0001259HP:0001259Coma0GCK CL E G H264579299ORPHA06244195138079
HP:0001259HP:0001259Coma0GCK CL E G H264599885ORPHA06244195138079
HP:0001259HP:0001259Coma0GCK CL E G H264579299ORPHA05644195138079
HP:0001259HP:0001259Coma0GCK CL E G H264599885ORPHA05644195138079
HP:0001259HP:0001259Coma0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA05274801600890
HP:0001259HP:0001259Coma0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA04774801600890
HP:0001259HP:0001259Coma0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02424803143450
HP:0001259HP:0001259Coma0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02134803143450
HP:0001259HP:0001259Coma0HLCS CL E G H314179242ORPHA06234976609018
HP:0001259HP:0001259Coma0HLCS CL E G H314179242ORPHA05814976609018
HP:0001259HP:0001259Coma0HYMAI CL E G H5706199886ORPHA0165326606546
HP:0001259HP:0001259Coma0INS CL E G H363099885ORPHA01546081176730
HP:0001259HP:0001259Coma0INS CL E G H363099885ORPHA01296081176730
HP:0001259HP:0001259Coma0INSR CL E G H3643263458ORPHA05416091147670
HP:0001259HP:0001259Coma0INSR CL E G H3643263458ORPHA05086091147670
HP:0001259HP:0001259Coma0KCNJ11 CL E G H376799885ORPHA03226257600937
HP:0001259HP:0001259Coma0KCNJ11 CL E G H376799885ORPHA03016257600937
HP:0001259HP:0001259Coma0KCNJ11 CL E G H376799886ORPHA03226257600937
HP:0001259HP:0001259Coma0KCNJ11 CL E G H376799886ORPHA03016257600937
HP:0001259HP:0001259Coma0KYNU CL E G H894279155ORPHA0546469605197
HP:0001259HP:0001259Coma0KYNU CL E G H894279155ORPHA0496469605197
HP:0001259HP:0001259Coma0MEN1 CL E G H422197279ORPHA015597010613733
HP:0001259HP:0001259Coma0MEN1 CL E G H422197279ORPHA014117010613733
HP:0001259HP:0001259Coma0PDX1 CL E G H365199885ORPHA01186107600733
HP:0001259HP:0001259Coma0PDX1 CL E G H365199885ORPHA01026107600733
HP:0001259HP:0001259Coma0PLAGL1 CL E G H532599886ORPHA0309046603044
HP:0001259HP:0001259Coma0SLC25A20 CL E G H788159ORPHA01341421613698
HP:0001259HP:0001259Coma0SLC25A20 CL E G H788159ORPHA01181421613698
HP:0001259HP:0001259Coma0STAT3 CL E G H677499885ORPHA043911364102582
HP:0001259HP:0001259Coma0STAT3 CL E G H677499885ORPHA039911364102582
HP:0001259HP:0001259Coma0ZFP57 CL E G H34617199886ORPHA08518791612192
HP:0001259HP:0001259Coma0ZFP57 CL E G H34617199886ORPHA07418791612192
HP:0001259HP:0001325Hypoglycemic coma1ABCC8 CL E G H683399886ORPHA0125359600509
HP:0001259HP:0001325Hypoglycemic coma1ABCC8 CL E G H683399885ORPHA0125359600509
HP:0001259HP:0001325Hypoglycemic coma1ABCC8 CL E G H683399886ORPHA0112559600509
HP:0001259HP:0001325Hypoglycemic coma1ABCC8 CL E G H683399885ORPHA0112559600509
HP:0001259HP:0001325Hypoglycemic coma1AUH CL E G H54967046ORPHA0177890600529
HP:0001259HP:0001325Hypoglycemic coma1AUH CL E G H54967046ORPHA0145890600529
HP:0001259HP:0001325Hypoglycemic coma1BRAF CL E G H67354595ORPHA06801097164757
HP:0001259HP:0001325Hypoglycemic coma1BRAF CL E G H67354595ORPHA06181097164757
HP:0001259HP:0001325Hypoglycemic coma1BTD CL E G H68679241ORPHA04091122609019
HP:0001259HP:0001325Hypoglycemic coma1BTD CL E G H68679241ORPHA03661122609019
HP:0001259HP:0001325Hypoglycemic coma1CTNNB1 CL E G H149954595ORPHA03642514116806
HP:0001259HP:0001325Hypoglycemic coma1CTNNB1 CL E G H149954595ORPHA02692514116806
HP:0001259HP:0001325Hypoglycemic coma1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA02963255604032
HP:0001259HP:0001325Hypoglycemic coma1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA01783255604032
HP:0001259HP:0001325Hypoglycemic coma1GCDH CL E G H263925ORPHA05214189608801
HP:0001259HP:0001325Hypoglycemic coma1GCDH CL E G H263925ORPHA04684189608801
HP:0001259HP:0001325Hypoglycemic coma1GCK CL E G H264579299ORPHA06244195138079
HP:0001259HP:0001325Hypoglycemic coma1GCK CL E G H264599885ORPHA06244195138079
HP:0001259HP:0001325Hypoglycemic coma1GCK CL E G H264599885ORPHA05644195138079
HP:0001259HP:0001325Hypoglycemic coma1GCK CL E G H264579299ORPHA05644195138079
HP:0001259HP:0001325Hypoglycemic coma1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA05274801600890
HP:0001259HP:0001325Hypoglycemic coma1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA04774801600890
HP:0001259HP:0001325Hypoglycemic coma1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02424803143450
HP:0001259HP:0001325Hypoglycemic coma1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA02134803143450
HP:0001259HP:0001325Hypoglycemic coma1HLCS CL E G H314179242ORPHA06234976609018
HP:0001259HP:0001325Hypoglycemic coma1HLCS CL E G H314179242ORPHA05814976609018
HP:0001259HP:0001325Hypoglycemic coma1HYMAI CL E G H5706199886ORPHA0165326606546
HP:0001259HP:0001325Hypoglycemic coma1INS CL E G H363099885ORPHA01546081176730
HP:0001259HP:0001325Hypoglycemic coma1INS CL E G H363099885ORPHA01296081176730
HP:0001259HP:0001325Hypoglycemic coma1INSR CL E G H3643263458ORPHA05416091147670
HP:0001259HP:0001325Hypoglycemic coma1INSR CL E G H3643263458ORPHA05086091147670
HP:0001259HP:0001325Hypoglycemic coma1KCNJ11 CL E G H376799886ORPHA03226257600937
HP:0001259HP:0001325Hypoglycemic coma1KCNJ11 CL E G H376799886ORPHA03016257600937
HP:0001259HP:0001325Hypoglycemic coma1KCNJ11 CL E G H376799885ORPHA03226257600937
HP:0001259HP:0001325Hypoglycemic coma1KCNJ11 CL E G H376799885ORPHA03016257600937
HP:0001259HP:0001325Hypoglycemic coma1KYNU CL E G H894279155ORPHA0546469605197
HP:0001259HP:0001325Hypoglycemic coma1KYNU CL E G H894279155ORPHA0496469605197
HP:0001259HP:0001325Hypoglycemic coma1MEN1 CL E G H422197279ORPHA015597010613733
HP:0001259HP:0001325Hypoglycemic coma1MEN1 CL E G H422197279ORPHA014117010613733
HP:0001259HP:0001325Hypoglycemic coma1PDX1 CL E G H365199885ORPHA01186107600733
HP:0001259HP:0001325Hypoglycemic coma1PDX1 CL E G H365199885ORPHA01026107600733
HP:0001259HP:0001325Hypoglycemic coma1PLAGL1 CL E G H532599886ORPHA0309046603044
HP:0001259HP:0001325Hypoglycemic coma1SLC25A20 CL E G H788159ORPHA01341421613698
HP:0001259HP:0001325Hypoglycemic coma1SLC25A20 CL E G H788159ORPHA01181421613698
HP:0001259HP:0001325Hypoglycemic coma1STAT3 CL E G H677499885ORPHA043911364102582
HP:0001259HP:0001325Hypoglycemic coma1STAT3 CL E G H677499885ORPHA039911364102582
HP:0001259HP:0001325Hypoglycemic coma1ZFP57 CL E G H34617199886ORPHA08518791612192
HP:0001259HP:0001325Hypoglycemic coma1ZFP57 CL E G H34617199886ORPHA07418791612192


Genes (75) :ABCC8 ACADM AKT2 ALDOB APP ASL ASPA ASS1 ATP1A2 ATP7B AUH BCKDHA BCKDHB BRAF BTD CACNA1A CPS1 CPT1A CPT2 CTNNB1 DBT EIF2AK3 ETFA ETFB ETFDH FBP1 GCDH GCK GK GLUD1 HADH HADHA HADHB HLCS HMGCL HNF1A HNF4A HYMAI INS INSR IVD KCNJ11 KYNU MC2R MCCC1 MCCC2 MEN1 MMAA MMAB MMUT NAGS NAXE NDUFS4 NFKB2 NNT NOTCH3 OTC PCCA PCCB PDX1 PLAGL1 POLG PRF1 RANBP2 SLC16A1 SLC19A3 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC7A7 STAT3 TRDN UCP2 ZFP57

Diseases (75) :99886 99885 276575 240800 201450 229600 324713 324703 207900 314911 215700 602481 277900 67046 248600 54595 79241 141500 237300 156 255120 228308 1667 229700 25 79299 307030 746 79242 253270 246450 324575 263455 263458 243500 276580 79155 236800 202200 210200 210210 97279 251100 251110 289916 79312 251000 237310 617186 252010 136 311250 606054 726 603553 88619 607483 212140 603471 238970 159 212138 222700 615441 276556 256450 293964 231680 602485 606762 609975 609968 293978 614736 610021
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.