Human Phenotype Ontology 
Grandparent Node:
expand
Generalized abnormality of skin (HP:0011354)help
Parent Node:
expand
Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
expand
Dermatological manifestations of systemic disorders (HP:0001005)help
..Starting node
..expand
Cyanosis (HP:0000961)help
Term ID: 961
Name: Cyanosis
Synonym: Blue discoloration of the skin
Definition: Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Comments:
Reference: HP:0000961
Genes and Diseases:
 
       Child Nodes:
........expandAcrocyanosis (HP:0001063) help
........expandCyanotic episode (HP:0200048) help

 Sister Nodes: 
..expandJaundice (HP:0000952) help
..expandPlethora (HP:0001050) help
..expandWarfarin-induced skin necrosis (HP:0001038) 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:0000961HP:0000961Cyanosis0ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent147
HP:0000961HP:0000961Cyanosis0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0000961HP:0000961Cyanosis0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040282 - Frequent415
HP:0000961HP:0000961Cyanosis0ACTC1 CL E G H70143ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare208
HP:0000961HP:0000961Cyanosis0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0000961HP:0000961Cyanosis0ADAMTS19 CL E G H17101917111OMIM:6200671
HP:0000961HP:0000961Cyanosis0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0000961HP:0000961Cyanosis0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0000961HP:0000961Cyanosis0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0000961HP:0000961Cyanosis0AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I260
HP:0000961HP:0000961Cyanosis0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional1
HP:0000961HP:0000961Cyanosis0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0000961HP:0000961Cyanosis0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional74
HP:0000961HP:0000961Cyanosis0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional53
HP:0000961HP:0000961Cyanosis0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional88
HP:0000961HP:0000961Cyanosis0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional139
HP:0000961HP:0000961Cyanosis0CITED2 CL E G H103701987ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare5
HP:0000961HP:0000961Cyanosis0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0000961HP:0000961Cyanosis0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0000961HP:0000961Cyanosis0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0000961HP:0000961Cyanosis0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0000961HP:0000961Cyanosis0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0000961HP:0000961Cyanosis0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040281 - Very frequent2
HP:0000961HP:0000961Cyanosis0CYB5A CL E G H15282570OMIM:250790Methemoglobinemia and ambiguous genitalia.2
HP:0000961HP:0000961Cyanosis0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040281 - Very frequent24
HP:0000961HP:0000961Cyanosis0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0000961HP:0000961Cyanosis0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0000961HP:0000961Cyanosis0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional91
HP:0000961HP:0000961Cyanosis0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosisHP:0040282 - Frequent40
HP:0000961HP:0000961Cyanosis0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0000961HP:0000961Cyanosis0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0000961HP:0000961Cyanosis0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0000961HP:0000961Cyanosis0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040282 - Frequent151
HP:0000961HP:0000961Cyanosis0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic42
HP:0000961HP:0000961Cyanosis0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathy42
HP:0000961HP:0000961Cyanosis0FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0000961HP:0000961Cyanosis0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0000961HP:0000961Cyanosis0GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0000961HP:0000961Cyanosis0GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0000961HP:0000961Cyanosis0GATA4 CL E G H26264173ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare87
HP:0000961HP:0000961Cyanosis0GATA6 CL E G H26274174ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare37
HP:0000961HP:0000961Cyanosis0GJA1 CL E G H26974274OMIM:600309Atrioventricular septal defect 3.68
HP:0000961HP:0000961Cyanosis0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000961HP:0000961Cyanosis0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0000961HP:0000961Cyanosis0HBA1 CL E G H30394823OMIM:617973METHEMOGLOBINEMIA, ALPHA TYPE200
HP:0000961HP:0000961Cyanosis0HBB CL E G H30434827OMIM:617971Methemoglobinemia, Beta type.HP:0003593 - Infantile onset580
HP:0000961HP:0000961Cyanosis0HBG2 CL E G H30484832OMIM:613977Cyanosis, transient neonatal.50
HP:0000961HP:0000961Cyanosis0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosisHP:0040282 - Frequent2
HP:0000961HP:0000961Cyanosis0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0000961HP:0000961Cyanosis0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0000961HP:0000961Cyanosis0KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional528
HP:0000961HP:0000961Cyanosis0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsy528
HP:0000961HP:0000961Cyanosis0KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional302
HP:0000961HP:0000961Cyanosis0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsy302
HP:0000961HP:0000961Cyanosis0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0000961HP:0000961Cyanosis0LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0000961HP:0000961Cyanosis0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional124
HP:0000961HP:0000961Cyanosis0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0000961HP:0000961Cyanosis0MMP21 CL E G H11885614357OMIM:616749Heterotaxy, visceral, 7, autosomal.3
HP:0000961HP:0000961Cyanosis0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional72
HP:0000961HP:0000961Cyanosis0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic fever150
HP:0000961HP:0000961Cyanosis0MYH6 CL E G H46247576ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare452
HP:0000961HP:0000961Cyanosis0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0000961HP:0000961Cyanosis0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0000961HP:0000961Cyanosis0NKX2-5 CL E G H14822488ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare90
HP:0000961HP:0000961Cyanosis0NKX2-6 CL E G H13781432940ORPHA:3384Truncus arteriosusHP:0040281 - Very frequent3
HP:0000961HP:0000961Cyanosis0PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 359
HP:0000961HP:0000961Cyanosis0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndrome225
HP:0000961HP:0000961Cyanosis0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0000961HP:0000961Cyanosis0PLD1 CL E G H53379067OMIM:212093Cardiac valvular defect, developmental4
HP:0000961HP:0000961Cyanosis0PLXND1 CL E G H231299107ORPHA:3384Truncus arteriosusHP:0040281 - Very frequent
HP:0000961HP:0000961Cyanosis0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital.235
HP:0000961HP:0000961Cyanosis0PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional94
HP:0000961HP:0000961Cyanosis0PSAT1 CL E G H2996819129OMIM:610992Phosphoserine aminotransferase deficiency27
HP:0000961HP:0000961Cyanosis0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0000961HP:0000961Cyanosis0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0000961HP:0000961Cyanosis0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional73
HP:0000961HP:0000961Cyanosis0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040282 - Frequent16
HP:0000961HP:0000961Cyanosis0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0000961HP:0000961Cyanosis0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0000961HP:0000961Cyanosis0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0000961HP:0000961Cyanosis0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0000961HP:0000961Cyanosis0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome65
HP:0000961HP:0000961Cyanosis0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0000961HP:0000961Cyanosis0SCN1A CL E G H632310585ORPHA:33069Dravet syndrome1053
HP:0000961HP:0000961Cyanosis0SCN1B CL E G H632410586ORPHA:33069Dravet syndrome126
HP:0000961HP:0000961Cyanosis0SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional427
HP:0000961HP:0000961Cyanosis0SCN2A CL E G H632610588ORPHA:33069Dravet syndrome427
HP:0000961HP:0000961Cyanosis0SCN2A CL E G H632610588OMIM:607745Seizures, benign familial infantile, 3.427
HP:0000961HP:0000961Cyanosis0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional263
HP:0000961HP:0000961Cyanosis0SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional357
HP:0000961HP:0000961Cyanosis0SCN9A CL E G H633510597ORPHA:33069Dravet syndrome318
HP:0000961HP:0000961Cyanosis0SEPTIN9 CL E G H108017323ORPHA:2901Neuralgic amyotrophy
HP:0000961HP:0000961Cyanosis0SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent51
HP:0000961HP:0000961Cyanosis0SFTPB CL E G H643910801OMIM:265120Surfactant metabolism dysfunction, pulmonary, 1.51
HP:0000961HP:0000961Cyanosis0SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent33
HP:0000961HP:0000961Cyanosis0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0000961HP:0000961Cyanosis0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0000961HP:0000961Cyanosis0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0000961HP:0000961Cyanosis0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040283 - Occasional40
HP:0000961HP:0000961Cyanosis0SLC25A3 CL E G H525010989ORPHA:91130Cardiomyopathy-hypotonia-lactic acidosis syndromeHP:0040282 - Frequent35
HP:0000961HP:0000961Cyanosis0SLC25A3 CL E G H525010989OMIM:610773MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY35
HP:0000961HP:0000961Cyanosis0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0000961HP:0000961Cyanosis0SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040283 - Occasional7
HP:0000961HP:0000961Cyanosis0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0000961HP:0000961Cyanosis0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0000961HP:0000961Cyanosis0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0000961HP:0000961Cyanosis0TBX20 CL E G H5705711598ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare20
HP:0000961HP:0000961Cyanosis0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0000961HP:0000961Cyanosis0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040283 - Occasional6
HP:0000961HP:0000961Cyanosis0TLL1 CL E G H709211843ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare6
HP:0000961HP:0000961Cyanosis0TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0000961HP:0000961Cyanosis0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0000961HP:0000961Cyanosis0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0000961HP:0000961Cyanosis0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0000961HP:0000961Cyanosis0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0000961HP:0000961Cyanosis0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked.39
HP:0000961HP:0000961Cyanosis0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0000961HP:0034034Differential cyanosis1 CL E G H
HP:0000961HP:0034032Central cyanosis1ADAMTS19 CL E G H17101917111OMIM:6200671
HP:0000961HP:0034033Peripheral cyanosis1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0000961HP:0034033Peripheral cyanosis1AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I260
HP:0000961HP:0034033Peripheral cyanosis1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0000961HP:0034033Peripheral cyanosis1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0000961HP:0034033Peripheral cyanosis1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0000961HP:0034033Peripheral cyanosis1ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0000961HP:0034033Peripheral cyanosis1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0000961HP:0034033Peripheral cyanosis1ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic42
HP:0000961HP:0034033Peripheral cyanosis1ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathy42
HP:0000961HP:0034033Peripheral cyanosis1FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0000961HP:0200048Cyanotic episode1GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0000961HP:0200048Cyanotic episode1GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0000961HP:0034033Peripheral cyanosis1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0000961HP:0034033Peripheral cyanosis1KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsy528
HP:0000961HP:0034033Peripheral cyanosis1KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsy302
HP:0000961HP:0034033Peripheral cyanosis1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0000961HP:0034033Peripheral cyanosis1MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic fever150
HP:0000961HP:0034033Peripheral cyanosis1PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 359
HP:0000961HP:0200048Cyanotic episode1PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0000961HP:0200048Cyanotic episode1PSAT1 CL E G H2996819129OMIM:610992Phosphoserine aminotransferase deficiency27
HP:0000961HP:0200048Cyanotic episode1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0000961HP:0034033Peripheral cyanosis1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0000961HP:0034033Peripheral cyanosis1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0000961HP:0034033Peripheral cyanosis1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0000961HP:0034033Peripheral cyanosis1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0000961HP:0034033Peripheral cyanosis1RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome65
HP:0000961HP:0034033Peripheral cyanosis1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0000961HP:0200048Cyanotic episode1SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0000961HP:0200048Cyanotic episode1SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0000961HP:0200048Cyanotic episode1SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0000961HP:0200048Cyanotic episode1SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0000961HP:0034033Peripheral cyanosis1SEPTIN9 CL E G H108017323ORPHA:2901Neuralgic amyotrophy
HP:0000961HP:0034033Peripheral cyanosis1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0000961HP:0034033Peripheral cyanosis1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0000961HP:0034033Peripheral cyanosis1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0000961HP:0001063Acrocyanosis2ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0000961HP:0001063Acrocyanosis2AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I.260
HP:0000961HP:0001063Acrocyanosis2COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0000961HP:0001063Acrocyanosis2COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0000961HP:0001063Acrocyanosis2COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0000961HP:0001063Acrocyanosis2ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040283 - Occasional133
HP:0000961HP:0001063Acrocyanosis2ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0000961HP:0001063Acrocyanosis2ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0000961HP:0001063Acrocyanosis2ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0000961HP:0001063Acrocyanosis2FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040283 - Occasional43
HP:0000961HP:0001063Acrocyanosis2IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0000961HP:0034031Facial cyanosis2KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsy528
HP:0000961HP:0034031Facial cyanosis2KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsy302
HP:0000961HP:0001063Acrocyanosis2LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000961HP:0001063Acrocyanosis2MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040283 - Occasional150
HP:0000961HP:0001063Acrocyanosis2PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 3HP:0040283 - Occasional59
HP:0000961HP:0001063Acrocyanosis2RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0000961HP:0001063Acrocyanosis2RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0000961HP:0001063Acrocyanosis2RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0000961HP:0001063Acrocyanosis2RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000961HP:0001063Acrocyanosis2RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000961HP:0001063Acrocyanosis2SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0000961HP:0001063Acrocyanosis2SEPTIN9 CL E G H108017323ORPHA:2901Neuralgic amyotrophyHP:0040283 - Occasional
HP:0000961HP:0001063Acrocyanosis2TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040282 - Frequent241
HP:0000961HP:0001063Acrocyanosis2TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0000961HP:0001063Acrocyanosis2TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0000961HP:0034030Lip cyanosis3 CL E G H
HP:0000961HP:0032556Circumoral cyanosis3KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent528
HP:0000961HP:0032556Circumoral cyanosis3KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent302


Genes (100) :ABCA3 ABCC6 ACTC1 ACVRL1 ADAMTS19 ADAR AGRN AGXT AK9 CHAT CHRNA1 CHRNB1 CHRND CHRNE CITED2 COL13A1 COL1A1 COL5A1 COL5A2 CYB5A CYB5R3 CYTB DOK7 EIF2AK4 ELP1 ENG ENPP1 ETHE1 FUCA1 FUZ GABRA1 GABRG2 GATA4 GATA6 GJA1 GRIK2 GTPBP3 HBA1 HBB HBG2 HLA-DRB1 HSD17B10 IFIH1 KCNQ2 KCNQ3 LMNA LRP4 LSM11 MMP21 MUSK MVK MYH6 MYO9A NDUFS4 NKX2-5 NKX2-6 PAX3 PCDH19 PCK1 PLD1 PLXND1 PRKAG2 PRRT2 PSAT1 PUS3 RAPSN RBM10 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPS6KA3 SAMHD1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A SEPTIN9 SFTPB SFTPC SLC18A3 SLC25A1 SLC25A20 SLC25A3 SLC2A1 SLC34A2 SLC5A7 SNAP25 SYT2 TBX20 TCF4 TLL1 TMEM260 TREX1 TXNDC15 VAMP1 ZIC3 ZMPSTE24

Diseases (64) :ORPHA:70587 OMIM:610921 ORPHA:51608 ORPHA:99103 OMIM:600376 OMIM:620067 ORPHA:51 ORPHA:98913 ORPHA:98914 OMIM:259900 ORPHA:287 ORPHA:621 OMIM:250790 OMIM:250800 ORPHA:137675 ORPHA:199241 ORPHA:1764 OMIM:223900 OMIM:187300 OMIM:602473 ORPHA:51188 ORPHA:349 ORPHA:1136 ORPHA:33069 OMIM:600309 OMIM:619580 ORPHA:444013 OMIM:617973 OMIM:617971 OMIM:613977 ORPHA:747 ORPHA:391428 ORPHA:306 ORPHA:1949 ORPHA:740 OMIM:619793 OMIM:616749 ORPHA:343 OMIM:252010 ORPHA:3384 ORPHA:896 OMIM:261680 OMIM:212093 OMIM:261740 OMIM:610992 ORPHA:284417 ORPHA:488627 ORPHA:2886 OMIM:303600 OMIM:607745 ORPHA:2901 OMIM:265120 OMIM:610913 ORPHA:159 ORPHA:91130 OMIM:610773 ORPHA:71277 ORPHA:60025 ORPHA:2896 ORPHA:99106 OMIM:617478 OMIM:225750 OMIM:619879 OMIM:306955
 

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