Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040282 - Frequent | | | 415 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 208 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ADAMTS19 CL E G H | 171019 | 17111 | OMIM:620067 | | | | | 1 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | AGXT CL E G H | 189 | 341 | OMIM:259900 | Hyperoxaluria, primary, type I | | | | 260 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 1 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 74 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 53 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 88 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 139 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 5 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CYB5A CL E G H | 1528 | 2570 | OMIM:250790 | Methemoglobinemia and ambiguous genitalia | . | | | 2 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040281 - Very frequent | | | 24 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CYB5R3 CL E G H | 1727 | 2873 | OMIM:250800 | Methemoglobinemia due to deficiency of methemoglobin reductase | . | | | 24 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 91 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040282 - Frequent | | | 40 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | | | | 133 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040282 - Frequent | | | 151 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | | | | 42 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | | | | 42 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | | | | 43 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040283 - Occasional | | | 3 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 87 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 37 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:600309 | Atrioventricular septal defect 3 | . | | | 68 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:617973 | METHEMOGLOBINEMIA, ALPHA TYPE | | | | 200 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | HBB CL E G H | 3043 | 4827 | OMIM:617971 | Methemoglobinemia, Beta type | . | HP:0003593 - Infantile onset | | 580 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | HBG2 CL E G H | 3048 | 4832 | OMIM:613977 | Cyanosis, transient neonatal | . | | | 50 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | HP:0040282 - Frequent | | | 2 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040283 - Occasional | | | 528 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | | | | 528 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040283 - Occasional | | | 302 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | | | | 302 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:619793 | RESTRICTIVE DERMOPATHY 2; RSDM2 | | | | 645 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 124 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | MMP21 CL E G H | 118856 | 14357 | OMIM:616749 | Heterotaxy, visceral, 7, autosomal | . | | | 3 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 72 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | | | | 150 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 452 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 90 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | HP:0040281 - Very frequent | | | 3 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | | | | 59 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | | | | 225 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | . | | | 53 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | HP:0040281 - Very frequent | | | | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:261740 | Glycogen storage disease of heart, lethal congenital | . | | | 235 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040283 - Occasional | | | 94 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:610992 | Phosphoserine aminotransferase deficiency | | | | 27 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 73 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | | | | 1053 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | | | | 126 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040283 - Occasional | | | 427 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | | | | 427 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SCN2A CL E G H | 6326 | 10588 | OMIM:607745 | Seizures, benign familial infantile, 3 | . | | | 427 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 263 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040283 - Occasional | | | 357 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | | | | 318 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SEPTIN9 CL E G H | 10801 | 7323 | ORPHA:2901 | Neuralgic amyotrophy | | | | | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SFTPB CL E G H | 6439 | 10801 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SFTPB CL E G H | 6439 | 10801 | OMIM:265120 | Surfactant metabolism dysfunction, pulmonary, 1 | . | | | 51 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040283 - Occasional | | | 40 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SLC25A3 CL E G H | 5250 | 10989 | ORPHA:91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SLC25A3 CL E G H | 5250 | 10989 | OMIM:610773 | MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY | | | | 35 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | HP:0040282 - Frequent | | | 255 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040283 - Occasional | | | 7 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | TBX20 CL E G H | 57057 | 11598 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 20 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 6 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | . | | | 39 | | |
HP:0000961 | HP:0000961 | Cyanosis | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000961 | HP:0034034 | Differential cyanosis | 1 | CL E G H | | | | | | | | | | |
HP:0000961 | HP:0034032 | Central cyanosis | 1 | ADAMTS19 CL E G H | 171019 | 17111 | OMIM:620067 | | | | | 1 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | AGXT CL E G H | 189 | 341 | OMIM:259900 | Hyperoxaluria, primary, type I | | | | 260 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | | | | 133 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | | | | 133 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | | | | 42 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | | | | 42 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | | | | 43 | | |
HP:0000961 | HP:0200048 | Cyanotic episode | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0000961 | HP:0200048 | Cyanotic episode | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 139 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | | | | 528 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | | | | 302 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | | | | 150 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | | | | 59 | | |
HP:0000961 | HP:0200048 | Cyanotic episode | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 225 | | |
HP:0000961 | HP:0200048 | Cyanotic episode | 1 | PSAT1 CL E G H | 29968 | 19129 | OMIM:610992 | Phosphoserine aminotransferase deficiency | | | | 27 | | |
HP:0000961 | HP:0200048 | Cyanotic episode | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0000961 | HP:0200048 | Cyanotic episode | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 1053 | | |
HP:0000961 | HP:0200048 | Cyanotic episode | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 126 | | |
HP:0000961 | HP:0200048 | Cyanotic episode | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 427 | | |
HP:0000961 | HP:0200048 | Cyanotic episode | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 318 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | SEPTIN9 CL E G H | 10801 | 7323 | ORPHA:2901 | Neuralgic amyotrophy | | | | | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0000961 | HP:0034033 | Peripheral cyanosis | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | AGXT CL E G H | 189 | 341 | OMIM:259900 | Hyperoxaluria, primary, type I | . | | | 260 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040283 - Occasional | | | 133 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | . | | | 42 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | HP:0040282 - Frequent | | | 42 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | HP:0040283 - Occasional | | | 43 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000961 | HP:0034031 | Facial cyanosis | 2 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | | | | 528 | | |
HP:0000961 | HP:0034031 | Facial cyanosis | 2 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | | | | 302 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040283 - Occasional | | | 150 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | HP:0040283 - Occasional | | | 59 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | SEPTIN9 CL E G H | 10801 | 7323 | ORPHA:2901 | Neuralgic amyotrophy | HP:0040283 - Occasional | | | | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040282 - Frequent | | | 241 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0000961 | HP:0001063 | Acrocyanosis | 2 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0000961 | HP:0034030 | Lip cyanosis | 3 | CL E G H | | | | | | | | | | |
HP:0000961 | HP:0032556 | Circumoral cyanosis | 3 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040282 - Frequent | | | 528 | | |
HP:0000961 | HP:0032556 | Circumoral cyanosis | 3 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040282 - Frequent | | | 302 | | |