Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 148 | 37 | 605414 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 834 | 25070 | 609377 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 179 | 23056 | 608750 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARHGEF9 CL E G H | 23229 | 300607 | Early infantile epileptic encephalopathy 8 | 300607 | C1845102 | OMIM | 1 | | 439 | 14561 | 300429 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 71 | 29561 | 611647 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 116 | 25903 | 614452 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 495 | 986 | 608348 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 547 | 987 | 248611 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 262 | 18620 | 606976 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 183 | 25302 | 612837 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 655 | 2295 | 117700 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 151 | 2873 | 613213 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 582 | 2698 | 248610 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 477 | 2890 | 300126 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DNAJC12 CL E G H | 56521 | 617384 | Hyperphenylalaninemia, mild, non-bh4-deficient | 617384 | C4479270 | OMIM | 1 | | 93 | 28908 | 606060 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DPAGT1 CL E G H | 1798 | 608093 | Congenital disorder of glycosylation type 1J | 608093 | C2931004 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 379 | 3012 | 612779 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 291 | 3133 | 300205 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 613 | 11529 | 185535 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 113 | 3433 | 126380 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1170 | 3438 | 609413 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EYA1 CL E G H | 2138 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 434 | 3519 | 601653 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 360 | 29170 | 613534 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 199 | 24678 | 610966 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 487 | 4136 | 601240 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA CL E G H | 2629 | 2072 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GBA CL E G H | 2629 | 85212 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 381 | 4326 | 138491 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 287 | 4329 | 138492 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 166 | 4367 | 613109 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GMPPB CL E G H | 29925 | 615351 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 615351 | C3809221 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 519 | 4588 | 602717 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 770 | 4878 | 606869 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HIST1H1E CL E G H | 3008 | 617537 | RAHMAN SYNDROME | 617537 | C4479637 | OMIM | 1 | | | 4718 | 142220 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HLCS CL E G H | 3141 | 253270 | Holocarboxylase synthetase deficiency | 253270 | C0268581 | OMIM | 1 | | 722 | 4976 | 609018 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 162 | 14348 | 606441 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | KCNQ2 CL E G H | 3785 | 1949 | Benign familial neonatal seizures | | CN200689 | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | KCNQ3 CL E G H | 3786 | 1949 | Benign familial neonatal seizures | | CN200689 | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 62 | 6469 | 605197 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | KYNU CL E G H | 8942 | 236800 | Hydroxykynureninuria | 236800 | C0268474 | OMIM | 1 | | 62 | 6469 | 605197 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 71 | 15505 | 606048 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 185 | 7104 | 602241 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 4826 | 7127 | 120436 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 1824 | 7128 | 604395 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6374 | 7325 | 609309 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 7706 | 7329 | 600678 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 1 | | 249 | 7602 | 160777 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | NAA10 CL E G H | 8260 | 300855 | N-terminal acetyltransferase deficiency | 300855 | C3275447 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | NECAP1 CL E G H | 25977 | 615833 | Early infantile epileptic encephalopathy 21 | 615833 | C4014430 | OMIM | 1 | | 167 | 24539 | 611623 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1201 | 28862 | 608667 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 105 | 8124 | 613022 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 1 | | 1316 | 8582 | 612349 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 1 | | 443 | 8609 | 604212 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PAX1 CL E G H | 5075 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 208 | 8615 | 167411 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PCBD1 CL E G H | 5092 | 264070 | Hyperphenylalaninemia, BH4-deficient, D | 264070 | C1849700 | OMIM | 1 | | 67 | 8646 | 126090 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 975 | 8975 | 171834 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PITX3 CL E G H | 5309 | 610623 | Cataract 11 | 610623 | C1864567 | OMIM | 1 | | 39 | 9006 | 602669 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PLK4 CL E G H | 10733 | 2518 | | | | ORPHA | 1 | | 407 | 11397 | 605031 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 90 | 9457 | 604436 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 96 | 9121 | 600258 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4346 | 9122 | 600259 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 281 | 30260 | 603287 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 281 | 30260 | 603287 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PRF1 CL E G H | 5551 | 603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 | C1863727 | OMIM | 1 | | 404 | 9360 | 170280 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PSAP CL E G H | 5660 | 611722 | Krabbe disease atypical due to Saposin A deficiency | 611722 | C2673266 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PSAT1 CL E G H | 29968 | 610992 | Phosphoserine aminotransferase deficiency | 610992 | C1970253 | OMIM | 1 | | 443 | 19129 | 610936 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 452 | 9508 | 104311 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 237 | 9509 | 600759 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PSPH CL E G H | 5723 | 614023 | Deficiency of phosphoserine phosphatase | 614023 | C1291463 | OMIM | 1 | | 160 | 9577 | 172480 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 259 | 9752 | 612676 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 293 | 9811 | 606462 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 1 | | 2005 | 15888 | 608833 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 617 | 25566 | 615743 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SLC6A19 CL E G H | 340024 | 234500 | Neutral 1 amino acid transport defect | 234500 | C0018609 | OMIM | 1 | | 371 | 27960 | 608893 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SLC6A5 CL E G H | 9152 | 614618 | Hyperekplexia 3 | 614618 | C3553288 | OMIM | 1 | | 532 | 11051 | 604159 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SLC6A8 CL E G H | 6535 | 52503 | | | | ORPHA | 1 | | 903 | 11055 | 300036 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 168 | 11056 | 601019 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 358 | 2468 | 606062 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 320 | 11185 | 602005 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SOX10 CL E G H | 6663 | 611584 | Waardenburg syndrome type 2E | 611584 | C2700405 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | SUOX CL E G H | 6821 | 272300 | Sulfite oxidase deficiency | 272300 | C0268624 | OMIM | 1 | | 275 | 11460 | 606887 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 1 | | 2449 | 11730 | 187270 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 1 | | 330 | 11824 | 604319 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 87 | 22407 | 613413 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 14 | 18001 | 608061 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TOR1A CL E G H | 1861 | 128100 | Dystonia 1 | 128100 | C1851945 | OMIM | 1 | | 172 | 3098 | 605204 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TOR1A CL E G H | 1861 | 256 | Schrander-Stumpel Theunissen Hulsmans syndrome | | | ORPHA | 1 | | 172 | 3098 | 605204 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TRAF7 CL E G H | 84231 | 618164 | CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY | 618164 | | OMIM | 1 | | 101 | 20456 | 606692 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 110 | 17761 | 605086 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TUBGCP4 CL E G H | 27229 | 2518 | | | | ORPHA | 1 | | 354 | 16691 | 609610 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | TUBGCP6 CL E G H | 85378 | 2518 | | | | ORPHA | 1 | | 1541 | 18127 | 610053 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | VAC14 CL E G H | 55697 | 617054 | Striatonigral degeneration, childhood-onset | 617054 | C4310743 | OMIM | 1 | | 220 | 25507 | 604632 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | VPS37A CL E G H | 137492 | 614898 | Spastic paraplegia 53, autosomal recessive | 614898 | C3539494 | OMIM | 1 | | 198 | 24928 | 609927 |
HP:0001276 | HP:0001276 | Hypertonia | 0 | ZSWIM6 CL E G H | 57688 | 617865 | NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES | 617865 | CN800196 | OMIM | 1 | | 466 | 29316 | 615951 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 148 | 37 | 605414 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 148 | 37 | 605414 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 148 | 37 | 605414 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 148 | 37 | 605414 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 834 | 25070 | 609377 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 834 | 25070 | 609377 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 834 | 25070 | 609377 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 834 | 25070 | 609377 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 517 | 119 | 609751 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0001276 | HP:0002063 | Rigidity | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0001276 | HP:0001257 | Spasticity | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 385 | 315 | 604581 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 179 | 23056 | 608750 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 179 | 23056 | 608750 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 179 | 23056 | 608750 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 179 | 23056 | 608750 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0001276 | HP:0002063 | Rigidity | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0001276 | HP:0001257 | Spasticity | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 404 | 620 | 104760 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ARHGEF9 CL E G H | 23229 | 300607 | Early infantile epileptic encephalopathy 8 | 300607 | C1845102 | OMIM | 1 | | 439 | 14561 | 300429 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ARHGEF9 CL E G H | 23229 | 300607 | Early infantile epileptic encephalopathy 8 | 300607 | C1845102 | OMIM | 1 | | 439 | 14561 | 300429 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ARHGEF9 CL E G H | 23229 | 300607 | Early infantile epileptic encephalopathy 8 | 300607 | C1845102 | OMIM | 1 | | 439 | 14561 | 300429 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ARHGEF9 CL E G H | 23229 | 300607 | Early infantile epileptic encephalopathy 8 | 300607 | C1845102 | OMIM | 1 | | 439 | 14561 | 300429 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 71 | 29561 | 611647 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 71 | 29561 | 611647 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 71 | 29561 | 611647 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 71 | 29561 | 611647 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 116 | 25903 | 614452 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 116 | 25903 | 614452 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 116 | 25903 | 614452 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 116 | 25903 | 614452 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001276 | HP:0002063 | Rigidity | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001276 | HP:0001257 | Spasticity | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 495 | 986 | 608348 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 495 | 986 | 608348 |
HP:0001276 | HP:0002063 | Rigidity | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 495 | 986 | 608348 |
HP:0001276 | HP:0001257 | Spasticity | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 495 | 986 | 608348 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 547 | 987 | 248611 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 547 | 987 | 248611 |
HP:0001276 | HP:0002063 | Rigidity | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 547 | 987 | 248611 |
HP:0001276 | HP:0001257 | Spasticity | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 547 | 987 | 248611 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0001276 | HP:0002063 | Rigidity | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0001276 | HP:0001257 | Spasticity | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0001276 | HP:0002063 | Rigidity | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0001276 | HP:0001257 | Spasticity | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0001276 | HP:0002063 | Rigidity | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0001276 | HP:0001257 | Spasticity | 1 | BRAT1 CL E G H | 221927 | 614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 | C3281029 | OMIM | 1 | | 960 | 21701 | 614506 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0001276 | HP:0002063 | Rigidity | 1 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0001276 | HP:0001257 | Spasticity | 1 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0001276 | HP:0002063 | Rigidity | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0001276 | HP:0001257 | Spasticity | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 262 | 18620 | 606976 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 262 | 18620 | 606976 |
HP:0001276 | HP:0002063 | Rigidity | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 262 | 18620 | 606976 |
HP:0001276 | HP:0001257 | Spasticity | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 262 | 18620 | 606976 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 183 | 25302 | 612837 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 183 | 25302 | 612837 |
HP:0001276 | HP:0002063 | Rigidity | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 183 | 25302 | 612837 |
HP:0001276 | HP:0001257 | Spasticity | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 183 | 25302 | 612837 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 655 | 2295 | 117700 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 655 | 2295 | 117700 |
HP:0001276 | HP:0002063 | Rigidity | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 655 | 2295 | 117700 |
HP:0001276 | HP:0001257 | Spasticity | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 655 | 2295 | 117700 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0001276 | HP:0002063 | Rigidity | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0001276 | HP:0001257 | Spasticity | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 151 | 2873 | 613213 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 151 | 2873 | 613213 |
HP:0001276 | HP:0002063 | Rigidity | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 151 | 2873 | 613213 |
HP:0001276 | HP:0001257 | Spasticity | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 151 | 2873 | 613213 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 582 | 2698 | 248610 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 582 | 2698 | 248610 |
HP:0001276 | HP:0002063 | Rigidity | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 582 | 2698 | 248610 |
HP:0001276 | HP:0001257 | Spasticity | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 582 | 2698 | 248610 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0001276 | HP:0002063 | Rigidity | 1 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0001276 | HP:0001257 | Spasticity | 1 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0001276 | HP:0002063 | Rigidity | 1 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0001276 | HP:0001257 | Spasticity | 1 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 477 | 2890 | 300126 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 477 | 2890 | 300126 |
HP:0001276 | HP:0002063 | Rigidity | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 477 | 2890 | 300126 |
HP:0001276 | HP:0001257 | Spasticity | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 477 | 2890 | 300126 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0001276 | HP:0002063 | Rigidity | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0001276 | HP:0001257 | Spasticity | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | DNAJC12 CL E G H | 56521 | 617384 | Hyperphenylalaninemia, mild, non-bh4-deficient | 617384 | C4479270 | OMIM | 1 | | 93 | 28908 | 606060 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | DNAJC12 CL E G H | 56521 | 617384 | Hyperphenylalaninemia, mild, non-bh4-deficient | 617384 | C4479270 | OMIM | 1 | | 93 | 28908 | 606060 |
HP:0001276 | HP:0002063 | Rigidity | 1 | DNAJC12 CL E G H | 56521 | 617384 | Hyperphenylalaninemia, mild, non-bh4-deficient | 617384 | C4479270 | OMIM | 1 | | 93 | 28908 | 606060 |
HP:0001276 | HP:0001257 | Spasticity | 1 | DNAJC12 CL E G H | 56521 | 617384 | Hyperphenylalaninemia, mild, non-bh4-deficient | 617384 | C4479270 | OMIM | 1 | | 93 | 28908 | 606060 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | DPAGT1 CL E G H | 1798 | 608093 | Congenital disorder of glycosylation type 1J | 608093 | C2931004 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | DPAGT1 CL E G H | 1798 | 608093 | Congenital disorder of glycosylation type 1J | 608093 | C2931004 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0001276 | HP:0002063 | Rigidity | 1 | DPAGT1 CL E G H | 1798 | 608093 | Congenital disorder of glycosylation type 1J | 608093 | C2931004 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0001276 | HP:0001257 | Spasticity | 1 | DPAGT1 CL E G H | 1798 | 608093 | Congenital disorder of glycosylation type 1J | 608093 | C2931004 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 379 | 3012 | 612779 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 379 | 3012 | 612779 |
HP:0001276 | HP:0002063 | Rigidity | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 379 | 3012 | 612779 |
HP:0001276 | HP:0001257 | Spasticity | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 379 | 3012 | 612779 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 291 | 3133 | 300205 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 291 | 3133 | 300205 |
HP:0001276 | HP:0002063 | Rigidity | 1 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 291 | 3133 | 300205 |
HP:0001276 | HP:0001257 | Spasticity | 1 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 291 | 3133 | 300205 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0001276 | HP:0002063 | Rigidity | 1 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0001276 | HP:0001257 | Spasticity | 1 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0001276 | HP:0002063 | Rigidity | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0001276 | HP:0001257 | Spasticity | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 613 | 11529 | 185535 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 613 | 11529 | 185535 |
HP:0001276 | HP:0002063 | Rigidity | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 613 | 11529 | 185535 |
HP:0001276 | HP:0001257 | Spasticity | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 613 | 11529 | 185535 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 113 | 3433 | 126380 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 113 | 3433 | 126380 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 113 | 3433 | 126380 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 113 | 3433 | 126380 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1170 | 3438 | 609413 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1170 | 3438 | 609413 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1170 | 3438 | 609413 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1170 | 3438 | 609413 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | EYA1 CL E G H | 2138 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 434 | 3519 | 601653 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | EYA1 CL E G H | 2138 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 434 | 3519 | 601653 |
HP:0001276 | HP:0002063 | Rigidity | 1 | EYA1 CL E G H | 2138 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 434 | 3519 | 601653 |
HP:0001276 | HP:0001257 | Spasticity | 1 | EYA1 CL E G H | 2138 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 434 | 3519 | 601653 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0001276 | HP:0002063 | Rigidity | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0001276 | HP:0001257 | Spasticity | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 360 | 29170 | 613534 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 360 | 29170 | 613534 |
HP:0001276 | HP:0002063 | Rigidity | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 360 | 29170 | 613534 |
HP:0001276 | HP:0001257 | Spasticity | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 360 | 29170 | 613534 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001276 | HP:0002063 | Rigidity | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001276 | HP:0001257 | Spasticity | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001276 | HP:0002063 | Rigidity | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001276 | HP:0001257 | Spasticity | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 199 | 24678 | 610966 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 199 | 24678 | 610966 |
HP:0001276 | HP:0002063 | Rigidity | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 199 | 24678 | 610966 |
HP:0001276 | HP:0001257 | Spasticity | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 199 | 24678 | 610966 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 487 | 4136 | 601240 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 487 | 4136 | 601240 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 487 | 4136 | 601240 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 487 | 4136 | 601240 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GBA CL E G H | 2629 | 2072 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GBA CL E G H | 2629 | 2072 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GBA CL E G H | 2629 | 2072 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GBA CL E G H | 2629 | 2072 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GBA CL E G H | 2629 | 85212 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GBA CL E G H | 2629 | 85212 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GBA CL E G H | 2629 | 85212 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GBA CL E G H | 2629 | 85212 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 381 | 4326 | 138491 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 381 | 4326 | 138491 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 381 | 4326 | 138491 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 381 | 4326 | 138491 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 287 | 4329 | 138492 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 287 | 4329 | 138492 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 287 | 4329 | 138492 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 287 | 4329 | 138492 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 166 | 4367 | 613109 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 166 | 4367 | 613109 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 166 | 4367 | 613109 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 166 | 4367 | 613109 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GMPPB CL E G H | 29925 | 615351 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 615351 | C3809221 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GMPPB CL E G H | 29925 | 615351 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 615351 | C3809221 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GMPPB CL E G H | 29925 | 615351 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 615351 | C3809221 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GMPPB CL E G H | 29925 | 615351 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 615351 | C3809221 | OMIM | 1 | | 273 | 22932 | 615320 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 982 | 15465 | 603930 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 519 | 4588 | 602717 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 519 | 4588 | 602717 |
HP:0001276 | HP:0002063 | Rigidity | 1 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 519 | 4588 | 602717 |
HP:0001276 | HP:0001257 | Spasticity | 1 | GRIN2D CL E G H | 2906 | 617162 | Epileptic encephalopathy, early infantile, 46 | 617162 | C4310687 | OMIM | 1 | | 519 | 4588 | 602717 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0001276 | HP:0002063 | Rigidity | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0001276 | HP:0001257 | Spasticity | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 770 | 4878 | 606869 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 770 | 4878 | 606869 |
HP:0001276 | HP:0002063 | Rigidity | 1 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 770 | 4878 | 606869 |
HP:0001276 | HP:0001257 | Spasticity | 1 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 770 | 4878 | 606869 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | HIST1H1E CL E G H | 3008 | 617537 | RAHMAN SYNDROME | 617537 | C4479637 | OMIM | 1 | | | 4718 | 142220 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | HIST1H1E CL E G H | 3008 | 617537 | RAHMAN SYNDROME | 617537 | C4479637 | OMIM | 1 | | | 4718 | 142220 |
HP:0001276 | HP:0002063 | Rigidity | 1 | HIST1H1E CL E G H | 3008 | 617537 | RAHMAN SYNDROME | 617537 | C4479637 | OMIM | 1 | | | 4718 | 142220 |
HP:0001276 | HP:0001257 | Spasticity | 1 | HIST1H1E CL E G H | 3008 | 617537 | RAHMAN SYNDROME | 617537 | C4479637 | OMIM | 1 | | | 4718 | 142220 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | HLCS CL E G H | 3141 | 253270 | Holocarboxylase synthetase deficiency | 253270 | C0268581 | OMIM | 1 | | 722 | 4976 | 609018 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | HLCS CL E G H | 3141 | 253270 | Holocarboxylase synthetase deficiency | 253270 | C0268581 | OMIM | 1 | | 722 | 4976 | 609018 |
HP:0001276 | HP:0002063 | Rigidity | 1 | HLCS CL E G H | 3141 | 253270 | Holocarboxylase synthetase deficiency | 253270 | C0268581 | OMIM | 1 | | 722 | 4976 | 609018 |
HP:0001276 | HP:0001257 | Spasticity | 1 | HLCS CL E G H | 3141 | 253270 | Holocarboxylase synthetase deficiency | 253270 | C0268581 | OMIM | 1 | | 722 | 4976 | 609018 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0001276 | HP:0002063 | Rigidity | 1 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0001276 | HP:0001257 | Spasticity | 1 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0001276 | HP:0002063 | Rigidity | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0001276 | HP:0001257 | Spasticity | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 162 | 14348 | 606441 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 162 | 14348 | 606441 |
HP:0001276 | HP:0002063 | Rigidity | 1 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 162 | 14348 | 606441 |
HP:0001276 | HP:0001257 | Spasticity | 1 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 162 | 14348 | 606441 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0001276 | HP:0002063 | Rigidity | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0001276 | HP:0001257 | Spasticity | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 114 | 6174 | 603904 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001276 | HP:0002063 | Rigidity | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001276 | HP:0001257 | Spasticity | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | KCNQ2 CL E G H | 3785 | 1949 | Benign familial neonatal seizures | | CN200689 | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | KCNQ2 CL E G H | 3785 | 1949 | Benign familial neonatal seizures | | CN200689 | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001276 | HP:0002063 | Rigidity | 1 | KCNQ2 CL E G H | 3785 | 1949 | Benign familial neonatal seizures | | CN200689 | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001276 | HP:0001257 | Spasticity | 1 | KCNQ2 CL E G H | 3785 | 1949 | Benign familial neonatal seizures | | CN200689 | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001276 | HP:0002063 | Rigidity | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001276 | HP:0001257 | Spasticity | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | KCNQ3 CL E G H | 3786 | 1949 | Benign familial neonatal seizures | | CN200689 | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | KCNQ3 CL E G H | 3786 | 1949 | Benign familial neonatal seizures | | CN200689 | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001276 | HP:0002063 | Rigidity | 1 | KCNQ3 CL E G H | 3786 | 1949 | Benign familial neonatal seizures | | CN200689 | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001276 | HP:0001257 | Spasticity | 1 | KCNQ3 CL E G H | 3786 | 1949 | Benign familial neonatal seizures | | CN200689 | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0001276 | HP:0002063 | Rigidity | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0001276 | HP:0001257 | Spasticity | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001276 | HP:0002063 | Rigidity | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001276 | HP:0001257 | Spasticity | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 62 | 6469 | 605197 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 62 | 6469 | 605197 |
HP:0001276 | HP:0002063 | Rigidity | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 62 | 6469 | 605197 |
HP:0001276 | HP:0001257 | Spasticity | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 62 | 6469 | 605197 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | KYNU CL E G H | 8942 | 236800 | Hydroxykynureninuria | 236800 | C0268474 | OMIM | 1 | | 62 | 6469 | 605197 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | KYNU CL E G H | 8942 | 236800 | Hydroxykynureninuria | 236800 | C0268474 | OMIM | 1 | | 62 | 6469 | 605197 |
HP:0001276 | HP:0002063 | Rigidity | 1 | KYNU CL E G H | 8942 | 236800 | Hydroxykynureninuria | 236800 | C0268474 | OMIM | 1 | | 62 | 6469 | 605197 |
HP:0001276 | HP:0001257 | Spasticity | 1 | KYNU CL E G H | 8942 | 236800 | Hydroxykynureninuria | 236800 | C0268474 | OMIM | 1 | | 62 | 6469 | 605197 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001276 | HP:0002063 | Rigidity | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001276 | HP:0001257 | Spasticity | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 71 | 15505 | 606048 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 71 | 15505 | 606048 |
HP:0001276 | HP:0002063 | Rigidity | 1 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 71 | 15505 | 606048 |
HP:0001276 | HP:0001257 | Spasticity | 1 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 71 | 15505 | 606048 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001276 | HP:0002063 | Rigidity | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001276 | HP:0001257 | Spasticity | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0001276 | HP:0002063 | Rigidity | 1 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0001276 | HP:0001257 | Spasticity | 1 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 185 | 7104 | 602241 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 185 | 7104 | 602241 |
HP:0001276 | HP:0002063 | Rigidity | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 185 | 7104 | 602241 |
HP:0001276 | HP:0001257 | Spasticity | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 185 | 7104 | 602241 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 4826 | 7127 | 120436 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 4826 | 7127 | 120436 |
HP:0001276 | HP:0002063 | Rigidity | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 4826 | 7127 | 120436 |
HP:0001276 | HP:0001257 | Spasticity | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 4826 | 7127 | 120436 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 1824 | 7128 | 604395 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 1824 | 7128 | 604395 |
HP:0001276 | HP:0002063 | Rigidity | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 1824 | 7128 | 604395 |
HP:0001276 | HP:0001257 | Spasticity | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 1824 | 7128 | 604395 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6374 | 7325 | 609309 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6374 | 7325 | 609309 |
HP:0001276 | HP:0002063 | Rigidity | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6374 | 7325 | 609309 |
HP:0001276 | HP:0001257 | Spasticity | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6374 | 7325 | 609309 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 7706 | 7329 | 600678 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 7706 | 7329 | 600678 |
HP:0001276 | HP:0002063 | Rigidity | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 7706 | 7329 | 600678 |
HP:0001276 | HP:0001257 | Spasticity | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 7706 | 7329 | 600678 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 1 | | 249 | 7602 | 160777 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 1 | | 249 | 7602 | 160777 |
HP:0001276 | HP:0002063 | Rigidity | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 1 | | 249 | 7602 | 160777 |
HP:0001276 | HP:0001257 | Spasticity | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 1 | | 249 | 7602 | 160777 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | NAA10 CL E G H | 8260 | 300855 | N-terminal acetyltransferase deficiency | 300855 | C3275447 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | NAA10 CL E G H | 8260 | 300855 | N-terminal acetyltransferase deficiency | 300855 | C3275447 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0001276 | HP:0002063 | Rigidity | 1 | NAA10 CL E G H | 8260 | 300855 | N-terminal acetyltransferase deficiency | 300855 | C3275447 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0001276 | HP:0001257 | Spasticity | 1 | NAA10 CL E G H | 8260 | 300855 | N-terminal acetyltransferase deficiency | 300855 | C3275447 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | NECAP1 CL E G H | 25977 | 615833 | Early infantile epileptic encephalopathy 21 | 615833 | C4014430 | OMIM | 1 | | 167 | 24539 | 611623 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | NECAP1 CL E G H | 25977 | 615833 | Early infantile epileptic encephalopathy 21 | 615833 | C4014430 | OMIM | 1 | | 167 | 24539 | 611623 |
HP:0001276 | HP:0002063 | Rigidity | 1 | NECAP1 CL E G H | 25977 | 615833 | Early infantile epileptic encephalopathy 21 | 615833 | C4014430 | OMIM | 1 | | 167 | 24539 | 611623 |
HP:0001276 | HP:0001257 | Spasticity | 1 | NECAP1 CL E G H | 25977 | 615833 | Early infantile epileptic encephalopathy 21 | 615833 | C4014430 | OMIM | 1 | | 167 | 24539 | 611623 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1201 | 28862 | 608667 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1201 | 28862 | 608667 |
HP:0001276 | HP:0002063 | Rigidity | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1201 | 28862 | 608667 |
HP:0001276 | HP:0001257 | Spasticity | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1201 | 28862 | 608667 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001276 | HP:0002063 | Rigidity | 1 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001276 | HP:0001257 | Spasticity | 1 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1201 | 28862 | 608667 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 105 | 8124 | 613022 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 105 | 8124 | 613022 |
HP:0001276 | HP:0002063 | Rigidity | 1 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 105 | 8124 | 613022 |
HP:0001276 | HP:0001257 | Spasticity | 1 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 105 | 8124 | 613022 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 1 | | 1316 | 8582 | 612349 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 1 | | 1316 | 8582 | 612349 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 1 | | 1316 | 8582 | 612349 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 1 | | 1316 | 8582 | 612349 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 1 | | 443 | 8609 | 604212 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 1 | | 443 | 8609 | 604212 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 1 | | 443 | 8609 | 604212 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 1 | | 443 | 8609 | 604212 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PAX1 CL E G H | 5075 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 208 | 8615 | 167411 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PAX1 CL E G H | 5075 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 208 | 8615 | 167411 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PAX1 CL E G H | 5075 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 208 | 8615 | 167411 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PAX1 CL E G H | 5075 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 208 | 8615 | 167411 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PCBD1 CL E G H | 5092 | 264070 | Hyperphenylalaninemia, BH4-deficient, D | 264070 | C1849700 | OMIM | 1 | | 67 | 8646 | 126090 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PCBD1 CL E G H | 5092 | 264070 | Hyperphenylalaninemia, BH4-deficient, D | 264070 | C1849700 | OMIM | 1 | | 67 | 8646 | 126090 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PCBD1 CL E G H | 5092 | 264070 | Hyperphenylalaninemia, BH4-deficient, D | 264070 | C1849700 | OMIM | 1 | | 67 | 8646 | 126090 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PCBD1 CL E G H | 5092 | 264070 | Hyperphenylalaninemia, BH4-deficient, D | 264070 | C1849700 | OMIM | 1 | | 67 | 8646 | 126090 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 975 | 8975 | 171834 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 975 | 8975 | 171834 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 975 | 8975 | 171834 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 975 | 8975 | 171834 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PITX3 CL E G H | 5309 | 610623 | Cataract 11 | 610623 | C1864567 | OMIM | 1 | | 39 | 9006 | 602669 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PITX3 CL E G H | 5309 | 610623 | Cataract 11 | 610623 | C1864567 | OMIM | 1 | | 39 | 9006 | 602669 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PITX3 CL E G H | 5309 | 610623 | Cataract 11 | 610623 | C1864567 | OMIM | 1 | | 39 | 9006 | 602669 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PITX3 CL E G H | 5309 | 610623 | Cataract 11 | 610623 | C1864567 | OMIM | 1 | | 39 | 9006 | 602669 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PLAA CL E G H | 9373 | 617527 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES | 617527 | C4479631 | OMIM | 1 | | 338 | 9043 | 603873 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PLK4 CL E G H | 10733 | 2518 | | | | ORPHA | 1 | | 407 | 11397 | 605031 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PLK4 CL E G H | 10733 | 2518 | | | | ORPHA | 1 | | 407 | 11397 | 605031 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PLK4 CL E G H | 10733 | 2518 | | | | ORPHA | 1 | | 407 | 11397 | 605031 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PLK4 CL E G H | 10733 | 2518 | | | | ORPHA | 1 | | 407 | 11397 | 605031 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 90 | 9457 | 604436 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 90 | 9457 | 604436 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 90 | 9457 | 604436 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 90 | 9457 | 604436 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 96 | 9121 | 600258 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 96 | 9121 | 600258 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 96 | 9121 | 600258 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 96 | 9121 | 600258 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4346 | 9122 | 600259 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4346 | 9122 | 600259 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4346 | 9122 | 600259 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4346 | 9122 | 600259 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 281 | 30260 | 603287 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 281 | 30260 | 603287 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 281 | 30260 | 603287 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 281 | 30260 | 603287 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 281 | 30260 | 603287 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 281 | 30260 | 603287 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 281 | 30260 | 603287 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 281 | 30260 | 603287 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001276 | HP:0002063 | Rigidity | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001276 | HP:0001257 | Spasticity | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001276 | HP:0002063 | Rigidity | 1 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001276 | HP:0001257 | Spasticity | 1 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001276 | HP:0002063 | Rigidity | 1 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001276 | HP:0001257 | Spasticity | 1 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001276 | HP:0002063 | Rigidity | 1 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001276 | HP:0001257 | Spasticity | 1 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PRF1 CL E G H | 5551 | 603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 | C1863727 | OMIM | 1 | | 404 | 9360 | 170280 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PRF1 CL E G H | 5551 | 603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 | C1863727 | OMIM | 1 | | 404 | 9360 | 170280 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PRF1 CL E G H | 5551 | 603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 | C1863727 | OMIM | 1 | | 404 | 9360 | 170280 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PRF1 CL E G H | 5551 | 603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 | C1863727 | OMIM | 1 | | 404 | 9360 | 170280 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PSAP CL E G H | 5660 | 611722 | Krabbe disease atypical due to Saposin A deficiency | 611722 | C2673266 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PSAP CL E G H | 5660 | 611722 | Krabbe disease atypical due to Saposin A deficiency | 611722 | C2673266 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PSAP CL E G H | 5660 | 611722 | Krabbe disease atypical due to Saposin A deficiency | 611722 | C2673266 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PSAP CL E G H | 5660 | 611722 | Krabbe disease atypical due to Saposin A deficiency | 611722 | C2673266 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PSAT1 CL E G H | 29968 | 610992 | Phosphoserine aminotransferase deficiency | 610992 | C1970253 | OMIM | 1 | | 443 | 19129 | 610936 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PSAT1 CL E G H | 29968 | 610992 | Phosphoserine aminotransferase deficiency | 610992 | C1970253 | OMIM | 1 | | 443 | 19129 | 610936 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PSAT1 CL E G H | 29968 | 610992 | Phosphoserine aminotransferase deficiency | 610992 | C1970253 | OMIM | 1 | | 443 | 19129 | 610936 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PSAT1 CL E G H | 29968 | 610992 | Phosphoserine aminotransferase deficiency | 610992 | C1970253 | OMIM | 1 | | 443 | 19129 | 610936 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 452 | 9508 | 104311 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 452 | 9508 | 104311 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 452 | 9508 | 104311 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 452 | 9508 | 104311 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 237 | 9509 | 600759 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 237 | 9509 | 600759 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 237 | 9509 | 600759 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 237 | 9509 | 600759 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PSPH CL E G H | 5723 | 614023 | Deficiency of phosphoserine phosphatase | 614023 | C1291463 | OMIM | 1 | | 160 | 9577 | 172480 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PSPH CL E G H | 5723 | 614023 | Deficiency of phosphoserine phosphatase | 614023 | C1291463 | OMIM | 1 | | 160 | 9577 | 172480 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PSPH CL E G H | 5723 | 614023 | Deficiency of phosphoserine phosphatase | 614023 | C1291463 | OMIM | 1 | | 160 | 9577 | 172480 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PSPH CL E G H | 5723 | 614023 | Deficiency of phosphoserine phosphatase | 614023 | C1291463 | OMIM | 1 | | 160 | 9577 | 172480 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0001276 | HP:0002063 | Rigidity | 1 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0001276 | HP:0001257 | Spasticity | 1 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 214 | 9689 | 612719 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 259 | 9752 | 612676 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 259 | 9752 | 612676 |
HP:0001276 | HP:0002063 | Rigidity | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 259 | 9752 | 612676 |
HP:0001276 | HP:0001257 | Spasticity | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 259 | 9752 | 612676 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 293 | 9811 | 606462 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 293 | 9811 | 606462 |
HP:0001276 | HP:0002063 | Rigidity | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 293 | 9811 | 606462 |
HP:0001276 | HP:0001257 | Spasticity | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 293 | 9811 | 606462 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 1 | | 2005 | 15888 | 608833 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 1 | | 2005 | 15888 | 608833 |
HP:0001276 | HP:0002063 | Rigidity | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 1 | | 2005 | 15888 | 608833 |
HP:0001276 | HP:0001257 | Spasticity | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 1 | | 2005 | 15888 | 608833 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SCN4A CL E G H | 6329 | 99735 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SCN4A CL E G H | 6329 | 99736 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 617 | 25566 | 615743 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 617 | 25566 | 615743 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 617 | 25566 | 615743 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 617 | 25566 | 615743 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 482 | 16266 | 606152 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SLC6A19 CL E G H | 340024 | 234500 | Neutral 1 amino acid transport defect | 234500 | C0018609 | OMIM | 1 | | 371 | 27960 | 608893 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SLC6A19 CL E G H | 340024 | 234500 | Neutral 1 amino acid transport defect | 234500 | C0018609 | OMIM | 1 | | 371 | 27960 | 608893 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SLC6A19 CL E G H | 340024 | 234500 | Neutral 1 amino acid transport defect | 234500 | C0018609 | OMIM | 1 | | 371 | 27960 | 608893 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SLC6A19 CL E G H | 340024 | 234500 | Neutral 1 amino acid transport defect | 234500 | C0018609 | OMIM | 1 | | 371 | 27960 | 608893 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SLC6A3 CL E G H | 6531 | 613135 | Infantile Parkinsonism-dystonia | 613135 | C2751067 | OMIM | 1 | | 479 | 11049 | 126455 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SLC6A5 CL E G H | 9152 | 614618 | Hyperekplexia 3 | 614618 | C3553288 | OMIM | 1 | | 532 | 11051 | 604159 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SLC6A5 CL E G H | 9152 | 614618 | Hyperekplexia 3 | 614618 | C3553288 | OMIM | 1 | | 532 | 11051 | 604159 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SLC6A5 CL E G H | 9152 | 614618 | Hyperekplexia 3 | 614618 | C3553288 | OMIM | 1 | | 532 | 11051 | 604159 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SLC6A5 CL E G H | 9152 | 614618 | Hyperekplexia 3 | 614618 | C3553288 | OMIM | 1 | | 532 | 11051 | 604159 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SLC6A8 CL E G H | 6535 | 52503 | | | | ORPHA | 1 | | 903 | 11055 | 300036 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SLC6A8 CL E G H | 6535 | 52503 | | | | ORPHA | 1 | | 903 | 11055 | 300036 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SLC6A8 CL E G H | 6535 | 52503 | | | | ORPHA | 1 | | 903 | 11055 | 300036 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SLC6A8 CL E G H | 6535 | 52503 | | | | ORPHA | 1 | | 903 | 11055 | 300036 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 168 | 11056 | 601019 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 168 | 11056 | 601019 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 168 | 11056 | 601019 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 168 | 11056 | 601019 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 358 | 2468 | 606062 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 358 | 2468 | 606062 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 358 | 2468 | 606062 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 358 | 2468 | 606062 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 320 | 11185 | 602005 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 320 | 11185 | 602005 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 320 | 11185 | 602005 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 320 | 11185 | 602005 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SOX10 CL E G H | 6663 | 611584 | Waardenburg syndrome type 2E | 611584 | C2700405 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SOX10 CL E G H | 6663 | 611584 | Waardenburg syndrome type 2E | 611584 | C2700405 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SOX10 CL E G H | 6663 | 611584 | Waardenburg syndrome type 2E | 611584 | C2700405 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SOX10 CL E G H | 6663 | 611584 | Waardenburg syndrome type 2E | 611584 | C2700405 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | SUOX CL E G H | 6821 | 272300 | Sulfite oxidase deficiency | 272300 | C0268624 | OMIM | 1 | | 275 | 11460 | 606887 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | SUOX CL E G H | 6821 | 272300 | Sulfite oxidase deficiency | 272300 | C0268624 | OMIM | 1 | | 275 | 11460 | 606887 |
HP:0001276 | HP:0002063 | Rigidity | 1 | SUOX CL E G H | 6821 | 272300 | Sulfite oxidase deficiency | 272300 | C0268624 | OMIM | 1 | | 275 | 11460 | 606887 |
HP:0001276 | HP:0001257 | Spasticity | 1 | SUOX CL E G H | 6821 | 272300 | Sulfite oxidase deficiency | 272300 | C0268624 | OMIM | 1 | | 275 | 11460 | 606887 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 1 | | 2449 | 11730 | 187270 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 1 | | 2449 | 11730 | 187270 |
HP:0001276 | HP:0002063 | Rigidity | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 1 | | 2449 | 11730 | 187270 |
HP:0001276 | HP:0001257 | Spasticity | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 1 | | 2449 | 11730 | 187270 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0001276 | HP:0002063 | Rigidity | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0001276 | HP:0001257 | Spasticity | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 1 | | 330 | 11824 | 604319 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 1 | | 330 | 11824 | 604319 |
HP:0001276 | HP:0002063 | Rigidity | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 1 | | 330 | 11824 | 604319 |
HP:0001276 | HP:0001257 | Spasticity | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 1 | | 330 | 11824 | 604319 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0001276 | HP:0002063 | Rigidity | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0001276 | HP:0001257 | Spasticity | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 87 | 22407 | 613413 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 87 | 22407 | 613413 |
HP:0001276 | HP:0002063 | Rigidity | 1 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 87 | 22407 | 613413 |
HP:0001276 | HP:0001257 | Spasticity | 1 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 87 | 22407 | 613413 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 14 | 18001 | 608061 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 14 | 18001 | 608061 |
HP:0001276 | HP:0002063 | Rigidity | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 14 | 18001 | 608061 |
HP:0001276 | HP:0001257 | Spasticity | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 14 | 18001 | 608061 |
HP:0001276 | HP:0002509 | Limb hypertonia | 1 | TOR1A CL E G H | 1861 | 128100 | Dystonia 1 | 128100 | C1851945 | OMIM | 1 | | 172 | 3098 | 605204 |
HP:0001276 | HP:0031867 | Neck hypertonia | 1 | TOR1A< |