Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Reduced consciousness/confusion (HP:0004372)help
..Starting node
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001259HP:0001259Coma0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0001259HP:0001259Coma0ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1245
HP:0001259HP:0001259Coma0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0001259HP:0001259Coma0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0001259HP:0001259Coma0ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of.197
HP:0001259HP:0001259Coma0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional197
HP:0001259HP:0001259Coma0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040282 - Frequent91
HP:0001259HP:0001259Coma0AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophy12
HP:0001259HP:0001259Coma0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0001259HP:0001259Coma0ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040284 - Very rare73
HP:0001259HP:0001259Coma0APP CL E G H351620ORPHA:324713ABeta amyloidosis, Italian typeHP:0040282 - Frequent74
HP:0001259HP:0001259Coma0APP CL E G H351620ORPHA:324703ABetaL34V amyloidosisHP:0040281 - Very frequent74
HP:0001259HP:0001259Coma0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0001259HP:0001259Coma0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0001259HP:0001259Coma0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0001259HP:0001259Coma0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2.239
HP:0001259HP:0001259Coma0ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0001259HP:0001259Coma0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040283 - Occasional49
HP:0001259HP:0001259Coma0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0001259HP:0001259Coma0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0001259HP:0001259Coma0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040284 - Very rare276
HP:0001259HP:0001259Coma0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0001259HP:0001259Coma0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1.449
HP:0001259HP:0001259Coma0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0001259HP:0001259Coma0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0001259HP:0001259Coma0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0001259HP:0001259Coma0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0001259HP:0001259Coma0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0001259HP:0001259Coma0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0001259HP:0001259Coma0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0001259HP:0001259Coma0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to.124
HP:0001259HP:0001259Coma0CPT1A CL E G H13742328ORPHA:156Carnitine palmitoyl transferase 1A deficiencyHP:0040282 - Frequent99
HP:0001259HP:0001259Coma0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0001259HP:0001259Coma0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040283 - Occasional101
HP:0001259HP:0001259Coma0CPT2 CL E G H13762330OMIM:614212Encephalopathy, acute, infection-induced, susceptibility to, 4.101
HP:0001259HP:0001259Coma0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040284 - Very rare88
HP:0001259HP:0001259Coma0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0001259HP:0001259Coma0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0001259HP:0001259Coma0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency37
HP:0001259HP:0001259Coma0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency27
HP:0001259HP:0001259Coma0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency77
HP:0001259HP:0001259Coma0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
HP:0001259HP:0001259Coma0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040283 - Occasional64
HP:0001259HP:0001259Coma0GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3237
HP:0001259HP:0001259Coma0GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiencyHP:0040283 - Occasional237
HP:0001259HP:0001259Coma0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional237
HP:0001259HP:0001259Coma0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0001259HP:0001259Coma0GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 656
HP:0001259HP:0001259Coma0HADH CL E G H30334799OMIM:609975Hyperinsulinemic hypoglycemia, familial, 441
HP:0001259HP:0001259Coma0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0001259HP:0001259Coma0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0001259HP:0001259Coma0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040283 - Occasional148
HP:0001259HP:0001259Coma0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0001259HP:0001259Coma0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040284 - Very rare81
HP:0001259HP:0001259Coma0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0001259HP:0001259Coma0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0001259HP:0001259Coma0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiency161
HP:0001259HP:0001259Coma0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0001259HP:0001259Coma0IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0001259HP:0001259Coma0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional62
HP:0001259HP:0001259Coma0INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5229
HP:0001259HP:0001259Coma0INSR CL E G H36436091ORPHA:263458Hyperinsulinism due to INSR deficiencyHP:0040283 - Occasional229
HP:0001259HP:0001259Coma0IVD CL E G H37126186OMIM:243500Isovaleric acidemia.105
HP:0001259HP:0001259Coma0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0001259HP:0001259Coma0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional127
HP:0001259HP:0001259Coma0KYNU CL E G H89426469ORPHA:79155HydroxykynureninuriaHP:0040283 - Occasional5
HP:0001259HP:0001259Coma0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0001259HP:0001259Coma0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiency94
HP:0001259HP:0001259Coma0MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 1.94
HP:0001259HP:0001259Coma0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0001259HP:0001259Coma0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001259HP:0001259Coma0MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040283 - Occasional462
HP:0001259HP:0001259Coma0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0001259HP:0001259Coma0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0001259HP:0001259Coma0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0001259HP:0001259Coma0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0001259HP:0001259Coma0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040281 - Very frequent
HP:0001259HP:0001259Coma0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040281 - Very frequent
HP:0001259HP:0001259Coma0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiency26
HP:0001259HP:0001259Coma0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040283 - Occasional36
HP:0001259HP:0001259Coma0NAGS CL E G H16241717996OMIM:237310N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY.36
HP:0001259HP:0001259Coma0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1.9
HP:0001259HP:0001259Coma0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0001259HP:0001259Coma0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0001259HP:0001259Coma0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiency13
HP:0001259HP:0001259Coma0NNT CL E G H235307863OMIM:614736Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency13
HP:0001259HP:0001259Coma0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to.369
HP:0001259HP:0001259Coma0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0001259HP:0001259Coma0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0001259HP:0001259Coma0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional30
HP:0001259HP:0001259Coma0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0001259HP:0001259Coma0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001259HP:0001259Coma0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040284 - Very rare41
HP:0001259HP:0001259Coma0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional58
HP:0001259HP:0001259Coma0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 2.58
HP:0001259HP:0001259Coma0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0001259HP:0001259Coma0RANBP2 CL E G H59039848OMIM:608033Encephalopathy, acute, infection-induced, susceptibility to, 3.57
HP:0001259HP:0001259Coma0RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathyHP:0040281 - Very frequent57
HP:0001259HP:0001259Coma0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0001259HP:0001259Coma0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0001259HP:0001259Coma0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0001259HP:0001259Coma0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040283 - Occasional82
HP:0001259HP:0001259Coma0SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset.82
HP:0001259HP:0001259Coma0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0001259HP:0001259Coma0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040283 - Occasional88
HP:0001259HP:0001259Coma0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040283 - Occasional40
HP:0001259HP:0001259Coma0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0001259HP:0001259Coma0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040283 - Occasional104
HP:0001259HP:0001259Coma0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0001259HP:0001259Coma0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0001259HP:0001259Coma0SQOR CL E G H5847220390OMIM:619221SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0001259HP:0001259Coma0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiency45
HP:0001259HP:0001259Coma0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional110
HP:0001259HP:0001259Coma0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional85
HP:0001259HP:0001259Coma0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional70
HP:0001259HP:0001259Coma0TBK1 CL E G H2911011584ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional20
HP:0001259HP:0001259Coma0TICAM1 CL E G H14802218348ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional6
HP:0001259HP:0001259Coma0TLR3 CL E G H709811849ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional3
HP:0001259HP:0001259Coma0TRAF3 CL E G H718712033ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional2
HP:0001259HP:0001259Coma0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiency85
HP:0001259HP:0001259Coma0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0001259HP:0001259Coma0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional116
HP:0001259HP:0001259Coma0UNC93B1 CL E G H8162213481ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional5
HP:0001259HP:0001259Coma0YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040283 - Occasional7
HP:0001259HP:0001325Hypoglycemic coma1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040283 - Occasional245
HP:0001259HP:0001325Hypoglycemic coma1ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1.245
HP:0001259HP:0001325Hypoglycemic coma1AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophyHP:0040281 - Very frequent12
HP:0001259HP:0001325Hypoglycemic coma1ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0001259HP:0001325Hypoglycemic coma1ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0001259HP:0001325Hypoglycemic coma1ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0001259HP:0001325Hypoglycemic coma1GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3.237
HP:0001259HP:0001325Hypoglycemic coma1GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 6.56
HP:0001259HP:0001325Hypoglycemic coma1HADH CL E G H30334799OMIM:609975Hyperinsulinemic hypoglycemia, familial, 4.41
HP:0001259HP:0001325Hypoglycemic coma1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040284 - Very rare35
HP:0001259HP:0001325Hypoglycemic coma1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040283 - Occasional161
HP:0001259HP:0001325Hypoglycemic coma1INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5.229
HP:0001259HP:0001325Hypoglycemic coma1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040283 - Occasional127
HP:0001259HP:0001325Hypoglycemic coma1MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare94
HP:0001259HP:0001325Hypoglycemic coma1MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare26
HP:0001259HP:0001325Hypoglycemic coma1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040281 - Very frequent11
HP:0001259HP:0001325Hypoglycemic coma1NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare13
HP:0001259HP:0001325Hypoglycemic coma1NNT CL E G H235307863OMIM:614736Glucocorticoid deficiency 4 with or without mineralocorticoid deficiencyHP:0040283 - Occasional13
HP:0001259HP:0001325Hypoglycemic coma1STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare45
HP:0001259HP:0001325Hypoglycemic coma1TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040284 - Very rare85
HP:0001259HP:0001325Hypoglycemic coma1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040283 - Occasional15


Genes (95) :ABCC8 ACADM ACAT1 AKT2 ALDOB APP ASL ASS1 ATP1A2 ATP7B AUH BCKDHA BCKDHB BRAF CACNA1A CDKN1A CDKN1B CDKN2B CDKN2C CFH CFHR1 CFHR3 CPS1 CPT1A CPT2 CTNNB1 CYC1 DBT ETFA ETFB ETFDH FBP1 GCK GK GLUD1 HADH HADHA HADHB HLCS HMBS HMGCL HNF1A HNF4A IL18BP INS INSR IVD KCNJ11 KYNU LYRM7 MC2R MCCC1 MCCC2 MEN1 MMAA MMAB MMUT MRAP NAGS NAXE NDUFS4 NFKB2 NNT OTC PCCA PCCB PDX1 POLG POLR3K PPOX PRF1 PRRT2 RANBP2 SCN1A SLC19A3 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC7A7 SOX10 SQOR STAR STAT3 STX11 STXBP2 TBK1 TICAM1 TLR3 TRAF3 TXNRD2 UCP2 UNC13D UNC93B1 YY1

Diseases (91) :ORPHA:276575 OMIM:256450 OMIM:240800 ORPHA:99885 OMIM:201450 ORPHA:42 ORPHA:134 ORPHA:293964 OMIM:229600 ORPHA:469 ORPHA:324713 ORPHA:324703 OMIM:207900 OMIM:215700 ORPHA:569 OMIM:602481 OMIM:277900 ORPHA:67046 OMIM:248600 ORPHA:54595 OMIM:141500 ORPHA:652 OMIM:235400 OMIM:237300 ORPHA:156 OMIM:255120 ORPHA:228308 OMIM:614212 OMIM:615453 OMIM:231680 OMIM:229700 ORPHA:348 OMIM:602485 ORPHA:79299 OMIM:307030 OMIM:606762 OMIM:609975 ORPHA:746 ORPHA:79242 OMIM:253270 ORPHA:79276 ORPHA:20 OMIM:246450 ORPHA:324575 ORPHA:263455 OMIM:618549 OMIM:609968 ORPHA:263458 OMIM:243500 ORPHA:276580 ORPHA:79155 OMIM:615838 ORPHA:361 OMIM:202200 OMIM:210200 OMIM:210210 ORPHA:97279 OMIM:251100 OMIM:251110 OMIM:251000 ORPHA:79312 ORPHA:289916 ORPHA:927 OMIM:237310 OMIM:617186 OMIM:252010 ORPHA:293978 OMIM:614736 OMIM:311250 OMIM:606054 ORPHA:726 OMIM:619310 ORPHA:79473 ORPHA:540 OMIM:603553 OMIM:608033 ORPHA:88619 OMIM:607483 OMIM:212140 ORPHA:247585 OMIM:603471 OMIM:238970 ORPHA:415 ORPHA:159 OMIM:212138 ORPHA:470 OMIM:222700 OMIM:609136 OMIM:619221 ORPHA:1930 ORPHA:276556
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.