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:0003201 | HP:0003201 | Rhabdomyolysis | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | | | | 50 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | AMPD1 CL E G H | 270 | 468 | OMIM:615511 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | | | | 62 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | HP:0040284 - Very rare | | | 304 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | . | | | | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040282 - Frequent | | | 247 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:188580 | Thyrotoxic periodic paralysis, susceptibility to, 1 | . | | | 247 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040283 - Occasional | | | 101 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040283 - Occasional | | | 101 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:255110 | Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | . | | | 101 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | | | | 17 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | | | | 57 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | HP:0040284 - Very rare | | | | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040282 - Frequent | | | | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040281 - Very frequent | | | 99 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 99 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 60 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040281 - Very frequent | | | 60 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | HP:0040283 - Occasional | | | 19 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040282 - Frequent | | | 10 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | | | | 35 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | . | | | 35 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | . | | | 95 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | . | | | 26 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | . | | | 21 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040282 - Frequent | | | 166 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040284 - Very rare | | | 1200 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | | | | 1200 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | . | | | 40 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | SLC25A42 CL E G H | 284439 | 28380 | OMIM:618416 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | HP:0040284 - Very rare | | | 1 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040283 - Occasional | | | 60 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | | | | 12 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | . | | | | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | . | | | 43 | | |
HP:0003201 | HP:0003201 | Rhabdomyolysis | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0003201 | HP:0011440 | Alcohol-induced rhabdomyolysis | 1 | CL E G H | | | | | | | | | | |
HP:0003201 | HP:0011439 | Anesthetic-induced rhabdomylosis | 1 | CL E G H | | | | | | | | | | |
HP:0003201 | HP:0009045 | Exercise-induced rhabdomyolysis | 1 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 200 | | |
HP:0003201 | HP:0009045 | Exercise-induced rhabdomyolysis | 1 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | . | | | 200 | | |
HP:0003201 | HP:0003558 | Viral infection-induced rhabdomyolysis | 1 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0003201 | HP:0009045 | Exercise-induced rhabdomyolysis | 1 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0003201 | HP:0009045 | Exercise-induced rhabdomyolysis | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 247 | | |
HP:0003201 | HP:0008942 | Acute rhabdomyolysis | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 247 | | |
HP:0003201 | HP:0003558 | Viral infection-induced rhabdomyolysis | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003201 | HP:0003558 | Viral infection-induced rhabdomyolysis | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003201 | HP:0008942 | Acute rhabdomyolysis | 1 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0003201 | HP:0008942 | Acute rhabdomyolysis | 1 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0003201 | HP:0003558 | Viral infection-induced rhabdomyolysis | 1 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | HP:0040283 - Occasional | | | 57 | | |
HP:0003201 | HP:0009045 | Exercise-induced rhabdomyolysis | 1 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040282 - Frequent | | | 35 | | |
HP:0003201 | HP:0003558 | Viral infection-induced rhabdomyolysis | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003201 | HP:0008942 | Acute rhabdomyolysis | 1 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | . | | | 95 | | |
HP:0003201 | HP:0009045 | Exercise-induced rhabdomyolysis | 1 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0003201 | HP:0009045 | Exercise-induced rhabdomyolysis | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 1200 | | |
HP:0003201 | HP:0008942 | Acute rhabdomyolysis | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 1200 | | |
HP:0003201 | HP:0003558 | Viral infection-induced rhabdomyolysis | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 66 | | |
HP:0003201 | HP:0008942 | Acute rhabdomyolysis | 1 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0003201 | HP:0008942 | Acute rhabdomyolysis | 1 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0003201 | HP:0003558 | Viral infection-induced rhabdomyolysis | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0003201 | HP:0003558 | Viral infection-induced rhabdomyolysis | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 84 | | |
HP:0003201 | HP:0003558 | Viral infection-induced rhabdomyolysis | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 57 | | |
HP:0003201 | HP:0003558 | Viral infection-induced rhabdomyolysis | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 102 | | |