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:0002179 | HP:0002179 | Opisthotonus | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | . | | | 41 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | ASPA CL E G H | 443 | 756 | OMIM:271900 | Canavan disease | | | | 48 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | . | | | 35 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040282 - Frequent | | | 38 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | CYB5R3 CL E G H | 1727 | 2873 | OMIM:250800 | Methemoglobinemia due to deficiency of methemoglobin reductase | . | | | 24 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040284 - Very rare | | | 3 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | . | | | 115 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | . | | | 6 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 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:0002179 | HP:0002179 | Opisthotonus | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:619814 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101 | | | | 108 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | . | | | 76 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | . | | | 81 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040282 - Frequent | | | 96 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:616896 | MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14 | | | | 214 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040283 - Occasional | | | 231 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216866 | Classic pantothenate kinase-associated neurodegeneration | HP:0040283 - Occasional | | | 55 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040282 - Frequent | | | 19 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 287 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 54 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | . | | | 84 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | . | | | 102 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | TUFM CL E G H | 7284 | 12420 | OMIM:610678 | Combined oxidative phosphorylation deficiency 4 | | | | 55 | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0002179 | HP:0002179 | Opisthotonus | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |