Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of nervous system physiology (HP:0012638)help
Parent Node:
expand
Abnormality of central motor function (HP:0011442)help
..Starting node
..expand
Rigidity (HP:0002063)help
Term ID: 2063
Name: Rigidity
Synonym: Muscle rigidity; Rigidity
Definition: Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Comments:
Reference: HP:0002063
Genes and Diseases:
 
       Child Nodes:
........expandCogwheel rigidity (HP:0002396) help
........expandExtrapyramidal muscular rigidity (HP:0007076) help
................... HP:0007158 Progressive extrapyramidal muscular rigidity
........expandDecorticate rigidity (HP:0011444) help
........expandDecerebrate rigidity (HP:0025013) help

 Sister Nodes: 
..expandAbnormality of central motor conduction (HP:0012079) help
..expandAbnormality of coordination (HP:0011443) help
..expandAbnormality of extrapyramidal motor function (HP:0002071) help
..expandApraxia (HP:0002186) help
..expandCentral hypotonia (HP:0011398) help
..expandCerebral palsy (HP:0100021) help
..expandParalysis (HP:0003470) help
..expandTorticollis (HP:0000473) help
..expandUpper motor neuron dysfunction (HP:0002493) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002063HP:0002063Rigidity0ABCA12 CL E G H26154242500Autosomal recessive congenital ichthyosis 4B242500C0239849OMIM113629414637607800
HP:0002063HP:0002063Rigidity0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1229316225146920
HP:0002063HP:0002063Rigidity0ARX CL E G H1703023175ORPHA19846618060300382
HP:0002063HP:0002063Rigidity0ATAD1 CL E G H848963197Lateral body wall defectORPHA132625903614452
HP:0002063HP:0002063Rigidity0ATP13A2 CL E G H23400306674ORPHA14436530213610513
HP:0002063HP:0002063Rigidity0ATP13A2 CL E G H23400314632ORPHA14436530213610513
HP:0002063HP:0002063Rigidity0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM14436530213610513
HP:0002063HP:0002063Rigidity0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0002063HP:0002063Rigidity0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM13347106607047
HP:0002063HP:0002063Rigidity0ATXN8 CL E G H72406698760ORPHA12232925613289
HP:0002063HP:0002063Rigidity0ATXN8OS CL E G H631598760ORPHA156910561603680
HP:0002063HP:0002063Rigidity0BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM11848221701614506
HP:0002063HP:0002063Rigidity0C19orf12 CL E G H83636289560ORPHA13820625443614297
HP:0002063HP:0002063Rigidity0C9orf72 CL E G H203228401901ORPHA12415828337614260
HP:0002063HP:0002063Rigidity0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM1229624537609512
HP:0002063HP:0002063Rigidity0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM137629932609855
HP:0002063HP:0002063Rigidity0COQ2 CL E G H2723598933ORPHA13310225223609825
HP:0002063HP:0002063Rigidity0CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM1301342389123590
HP:0002063HP:0002063Rigidity0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM11002582433164770
HP:0002063HP:0002063Rigidity0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1193322529116840
HP:0002063HP:0002063Rigidity0DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM1574212711601143
HP:0002063HP:0002063Rigidity0DDHD1 CL E G H80821101008ORPHA11312819714614603
HP:0002063HP:0002063Rigidity0DHCR24 CL E G H171835107ORPHA1101372859606418
HP:0002063HP:0002063Rigidity0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM1812220603608172
HP:0002063HP:0002063Rigidity0DNAJC6 CL E G H9829391411ORPHA1148315469608375
HP:0002063HP:0002063Rigidity0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM1148315469608375
HP:0002063HP:0002063Rigidity0FBXO7 CL E G H25793171695ORPHA11710913586605648
HP:0002063HP:0002063Rigidity0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM11710913586605648
HP:0002063HP:0002063Rigidity0FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0002063HP:0002063Rigidity0FMR1 CL E G H233293256ORPHA1812813775309550
HP:0002063HP:0002063Rigidity0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM1818326927613622
HP:0002063HP:0002063Rigidity0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM161641362604574
HP:0002063HP:0002063Rigidity0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM164913999134790
HP:0002063HP:0002063Rigidity0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0002063HP:0002063Rigidity0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM12443374189608801
HP:0002063HP:0002063Rigidity0GCH1 CL E G H264398808ORPHA12522084193600225
HP:0002063HP:0002063Rigidity0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522084193600225
HP:0002063HP:0002063Rigidity0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15713317494608803
HP:0002063HP:0002063Rigidity0GLRA1 CL E G H27413197Lateral body wall defectORPHA1721994326138491
HP:0002063HP:0002063Rigidity0GLRB CL E G H27433197Lateral body wall defectORPHA1191254329138492
HP:0002063HP:0002063Rigidity0GPHN CL E G H102433197Lateral body wall defectORPHA12015515465603930
HP:0002063HP:0002063Rigidity0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM1541329476602194
HP:0002063HP:0002063Rigidity0HTT CL E G H3064248111ORPHA181274851613004
HP:0002063HP:0002063Rigidity0INPP5K CL E G H51763559ORPHA11013633882607875
HP:0002063HP:0002063Rigidity0ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM16616174603904
HP:0002063HP:0002063Rigidity0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM1212014203605268
HP:0002063HP:0002063Rigidity0KRAS CL E G H38452396ORPHA1452746407190070
HP:0002063HP:0002063Rigidity0LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM1101106535150000
HP:0002063HP:0002063Rigidity0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM123321610610236
HP:0002063HP:0002063Rigidity0MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM11203796893157140
HP:0002063HP:0002063Rigidity0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM11203796893157140
HP:0002063HP:0002063Rigidity0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0002063HP:0002063Rigidity0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM1105014426990300005
HP:0002063HP:0002063Rigidity0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM11011328625612392
HP:0002063HP:0002063Rigidity0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM123797981601828
HP:0002063HP:0002063Rigidity0PANK2 CL E G H80025216873ORPHA118219215894606157
HP:0002063HP:0002063Rigidity0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM118219215894606157
HP:0002063HP:0002063Rigidity0PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM1369116369602533
HP:0002063HP:0002063Rigidity0PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA1111348794603390
HP:0002063HP:0002063Rigidity0PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM1111348794603390
HP:0002063HP:0002063Rigidity0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM123448800190040
HP:0002063HP:0002063Rigidity0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1241508804173410
HP:0002063HP:0002063Rigidity0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM113817214581608309
HP:0002063HP:0002063Rigidity0PLA2G6 CL E G H8398199351ORPHA11792899039603604
HP:0002063HP:0002063Rigidity0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM11792899039603604
HP:0002063HP:0002063Rigidity0PLAA CL E G H9373521426ORPHA13849043603873
HP:0002063HP:0002063Rigidity0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0002063HP:0002063Rigidity0PODXL CL E G H5420391411ORPHA112599171602632
HP:0002063HP:0002063Rigidity0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130011969179174763
HP:0002063HP:0002063Rigidity0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM130011969179174763
HP:0002063HP:0002063Rigidity0PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM14414688607602544
HP:0002063HP:0002063Rigidity0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11091269449176640
HP:0002063HP:0002063Rigidity0PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11091269449176640
HP:0002063HP:0002063Rigidity0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM1112989689612719
HP:0002063HP:0002063Rigidity0RANBP2 CL E G H590388619ORPHA184459848601181
HP:0002063HP:0002063Rigidity0REEP2 CL E G H51308401849ORPHA153517975609347
HP:0002063HP:0002063Rigidity0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0002063HP:0002063Rigidity0RYR1 CL E G H6261145600Malignant hyperthermia, susceptibility to, 1145600CN031421OMIM1688309410483180901
HP:0002063HP:0002063Rigidity0SIL1 CL E G H64374559ORPHA14916724624608005
HP:0002063HP:0002063Rigidity0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM13831816266606152
HP:0002063HP:0002063Rigidity0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM18918210947158378
HP:0002063HP:0002063Rigidity0SLC30A10 CL E G H55532309854ORPHA1229225355611146
HP:0002063HP:0002063Rigidity0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM1229225355611146
HP:0002063HP:0002063Rigidity0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM14625911049126455
HP:0002063HP:0002063Rigidity0SLC6A5 CL E G H91523197Lateral body wall defectORPHA13314311051604159
HP:0002063HP:0002063Rigidity0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125439711120607608
HP:0002063HP:0002063Rigidity0SNCA CL E G H6622171695ORPHA13713011138163890
HP:0002063HP:0002063Rigidity0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM13713011138163890
HP:0002063HP:0002063Rigidity0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM1611511139603779
HP:0002063HP:0002063Rigidity0SPR CL E G H669770594ORPHA12510011257182125
HP:0002063HP:0002063Rigidity0SYNJ1 CL E G H8867391411ORPHA12745211503604297
HP:0002063HP:0002063Rigidity0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM12745211503604297
HP:0002063HP:0002063Rigidity0TBP CL E G H690898759ORPHA1189111588600075
HP:0002063HP:0002063Rigidity0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM1189111588600075
HP:0002063HP:0002063Rigidity0TH CL E G H7054101150ORPHA17734511782191290
HP:0002063HP:0002063Rigidity0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM17734511782191290
HP:0002063HP:0002063Rigidity0TMEM240 CL E G H33945398773ORPHA1616325186616101
HP:0002063HP:0002063Rigidity0TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM1815611948191041
HP:0002063HP:0002063Rigidity0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14213920774602662
HP:0002063HP:0002063Rigidity0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM132312511600673
HP:0002063HP:0002063Rigidity0WDR45 CL E G H11152329284ORPHA17834928912300526
HP:0002063HP:0002063Rigidity0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17834928912300526
HP:0002063HP:0002063Rigidity0WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM15059612799605131
HP:0002063HP:0002063Rigidity1ABCA12 CL E G H26154242500Autosomal recessive congenital ichthyosis 4B242500C0239849OMIM113629414637607800
HP:0002063HP:0002063Rigidity1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1229316225146920
HP:0002063HP:0002063Rigidity1ARX CL E G H1703023175ORPHA19846618060300382
HP:0002063HP:0002063Rigidity1ATAD1 CL E G H848963197Lateral body wall defectORPHA132625903614452
HP:0002063HP:0002063Rigidity1ATP13A2 CL E G H23400314632ORPHA14436530213610513
HP:0002063HP:0002063Rigidity1ATP13A2 CL E G H23400306674ORPHA14436530213610513
HP:0002063HP:0002063Rigidity1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM14436530213610513
HP:0002063HP:0002063Rigidity1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0002063HP:0002063Rigidity1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM13347106607047
HP:0002063HP:0002063Rigidity1ATXN8 CL E G H72406698760ORPHA12232925613289
HP:0002063HP:0002063Rigidity1ATXN8OS CL E G H631598760ORPHA156910561603680
HP:0002063HP:0002063Rigidity1BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM11848221701614506
HP:0002063HP:0002063Rigidity1C19orf12 CL E G H83636289560ORPHA13820625443614297
HP:0002063HP:0002063Rigidity1C9orf72 CL E G H203228401901ORPHA12415828337614260
HP:0002063HP:0002063Rigidity1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM1229624537609512
HP:0002063HP:0002063Rigidity1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM137629932609855
HP:0002063HP:0002063Rigidity1COQ2 CL E G H2723598933ORPHA13310225223609825
HP:0002063HP:0002063Rigidity1CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM1301342389123590
HP:0002063HP:0002063Rigidity1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM11002582433164770
HP:0002063HP:0002063Rigidity1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1193322529116840
HP:0002063HP:0002063Rigidity1DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM1574212711601143
HP:0002063HP:0002063Rigidity1DDHD1 CL E G H80821101008ORPHA11312819714614603
HP:0002063HP:0002063Rigidity1DHCR24 CL E G H171835107ORPHA1101372859606418
HP:0002063HP:0002063Rigidity1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM1812220603608172
HP:0002063HP:0002063Rigidity1DNAJC6 CL E G H9829391411ORPHA1148315469608375
HP:0002063HP:0002063Rigidity1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM1148315469608375
HP:0002063HP:0002063Rigidity1FBXO7 CL E G H25793171695ORPHA11710913586605648
HP:0002063HP:0002063Rigidity1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM11710913586605648
HP:0002063HP:0002063Rigidity1FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0002063HP:0002063Rigidity1FMR1 CL E G H233293256ORPHA1812813775309550
HP:0002063HP:0002063Rigidity1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM1818326927613622
HP:0002063HP:0002063Rigidity1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM161641362604574
HP:0002063HP:0002063Rigidity1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM164913999134790
HP:0002063HP:0002063Rigidity1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0002063HP:0002063Rigidity1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM12443374189608801
HP:0002063HP:0002063Rigidity1GCH1 CL E G H264398808ORPHA12522084193600225
HP:0002063HP:0002063Rigidity1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522084193600225
HP:0002063HP:0002063Rigidity1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15713317494608803
HP:0002063HP:0002063Rigidity1GLRA1 CL E G H27413197Lateral body wall defectORPHA1721994326138491
HP:0002063HP:0002063Rigidity1GLRB CL E G H27433197Lateral body wall defectORPHA1191254329138492
HP:0002063HP:0002063Rigidity1GPHN CL E G H102433197Lateral body wall defectORPHA12015515465603930
HP:0002063HP:0002063Rigidity1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM1541329476602194
HP:0002063HP:0002063Rigidity1HTT CL E G H3064248111ORPHA181274851613004
HP:0002063HP:0002063Rigidity1INPP5K CL E G H51763559ORPHA11013633882607875
HP:0002063HP:0002063Rigidity1ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM16616174603904
HP:0002063HP:0002063Rigidity1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM1212014203605268
HP:0002063HP:0002063Rigidity1KRAS CL E G H38452396ORPHA1452746407190070
HP:0002063HP:0002063Rigidity1LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM1101106535150000
HP:0002063HP:0002063Rigidity1LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM123321610610236
HP:0002063HP:0002063Rigidity1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM11203796893157140
HP:0002063HP:0002063Rigidity1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM11203796893157140
HP:0002063HP:0002063Rigidity1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0002063HP:0002063Rigidity1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM1105014426990300005
HP:0002063HP:0002063Rigidity1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM11011328625612392
HP:0002063HP:0002063Rigidity1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM123797981601828
HP:0002063HP:0002063Rigidity1PANK2 CL E G H80025216873ORPHA118219215894606157
HP:0002063HP:0002063Rigidity1PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM118219215894606157
HP:0002063HP:0002063Rigidity1PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM1369116369602533
HP:0002063HP:0002063Rigidity1PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA1111348794603390
HP:0002063HP:0002063Rigidity1PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM1111348794603390
HP:0002063HP:0002063Rigidity1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM123448800190040
HP:0002063HP:0002063Rigidity1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1241508804173410
HP:0002063HP:0002063Rigidity1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM113817214581608309
HP:0002063HP:0002063Rigidity1PLA2G6 CL E G H8398199351ORPHA11792899039603604
HP:0002063HP:0002063Rigidity1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM11792899039603604
HP:0002063HP:0002063Rigidity1PLAA CL E G H9373521426ORPHA13849043603873
HP:0002063HP:0002063Rigidity1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0002063HP:0002063Rigidity1PODXL CL E G H5420391411ORPHA112599171602632
HP:0002063HP:0002063Rigidity1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130011969179174763
HP:0002063HP:0002063Rigidity1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM130011969179174763
HP:0002063HP:0002063Rigidity1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM14414688607602544
HP:0002063HP:0002063Rigidity1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11091269449176640
HP:0002063HP:0002063Rigidity1PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11091269449176640
HP:0002063HP:0002063Rigidity1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM1112989689612719
HP:0002063HP:0002063Rigidity1RANBP2 CL E G H590388619ORPHA184459848601181
HP:0002063HP:0002063Rigidity1REEP2 CL E G H51308401849ORPHA153517975609347
HP:0002063HP:0002063Rigidity1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0002063HP:0002063Rigidity1RYR1 CL E G H6261145600Malignant hyperthermia, susceptibility to, 1145600CN031421OMIM1688309410483180901
HP:0002063HP:0002063Rigidity1SIL1 CL E G H64374559ORPHA14916724624608005
HP:0002063HP:0002063Rigidity1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM13831816266606152
HP:0002063HP:0002063Rigidity1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM18918210947158378
HP:0002063HP:0002063Rigidity1SLC30A10 CL E G H55532309854ORPHA1229225355611146
HP:0002063HP:0002063Rigidity1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM1229225355611146
HP:0002063HP:0002063Rigidity1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM14625911049126455
HP:0002063HP:0002063Rigidity1SLC6A5 CL E G H91523197Lateral body wall defectORPHA13314311051604159
HP:0002063HP:0002063Rigidity1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125439711120607608
HP:0002063HP:0002063Rigidity1SNCA CL E G H6622171695ORPHA13713011138163890
HP:0002063HP:0002063Rigidity1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM13713011138163890
HP:0002063HP:0002063Rigidity1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM1611511139603779
HP:0002063HP:0002063Rigidity1SPR CL E G H669770594ORPHA12510011257182125
HP:0002063HP:0002063Rigidity1SYNJ1 CL E G H8867391411ORPHA12745211503604297
HP:0002063HP:0002063Rigidity1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM12745211503604297
HP:0002063HP:0002063Rigidity1TBP CL E G H690898759ORPHA1189111588600075
HP:0002063HP:0002063Rigidity1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM1189111588600075
HP:0002063HP:0002063Rigidity1TH CL E G H7054101150ORPHA17734511782191290
HP:0002063HP:0002063Rigidity1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM17734511782191290
HP:0002063HP:0002063Rigidity1TMEM240 CL E G H33945398773ORPHA1616325186616101
HP:0002063HP:0002063Rigidity1TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM1815611948191041
HP:0002063HP:0002063Rigidity1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14213920774602662
HP:0002063HP:0002063Rigidity1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM132312511600673
HP:0002063HP:0002063Rigidity1WDR45 CL E G H11152329284ORPHA17834928912300526
HP:0002063HP:0002063Rigidity1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17834928912300526
HP:0002063HP:0002063Rigidity1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM15059612799605131
HP:0002063HP:0002063Rigidity2ABCA12 CL E G H26154242500Autosomal recessive congenital ichthyosis 4B242500C0239849OMIM113629414637607800
HP:0002063HP:0002063Rigidity2ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1229316225146920
HP:0002063HP:0002063Rigidity2ARX CL E G H1703023175ORPHA19846618060300382
HP:0002063HP:0002063Rigidity2ATAD1 CL E G H848963197Lateral body wall defectORPHA132625903614452
HP:0002063HP:0002063Rigidity2ATP13A2 CL E G H23400314632ORPHA14436530213610513
HP:0002063HP:0002063Rigidity2ATP13A2 CL E G H23400306674ORPHA14436530213610513
HP:0002063HP:0002063Rigidity2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM14436530213610513
HP:0002063HP:0002063Rigidity2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0002063HP:0002063Rigidity2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM13347106607047
HP:0002063HP:0002063Rigidity2ATXN8 CL E G H72406698760ORPHA12232925613289
HP:0002063HP:0002063Rigidity2ATXN8OS CL E G H631598760ORPHA156910561603680
HP:0002063HP:0002063Rigidity2BRAT1 CL E G H221927614498Rigidity and multifocal seizure syndrome, lethal neonatal614498C3281029OMIM11848221701614506
HP:0002063HP:0002063Rigidity2C19orf12 CL E G H83636289560ORPHA13820625443614297
HP:0002063HP:0002063Rigidity2C9orf72 CL E G H203228401901ORPHA12415828337614260
HP:0002063HP:0002063Rigidity2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM1229624537609512
HP:0002063HP:0002063Rigidity2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM137629932609855
HP:0002063HP:0002063Rigidity2COQ2 CL E G H2723598933ORPHA13310225223609825
HP:0002063HP:0002063Rigidity2CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM1301342389123590
HP:0002063HP:0002063Rigidity2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM11002582433164770
HP:0002063HP:0002063Rigidity2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1193322529116840
HP:0002063HP:0002063Rigidity2DCTN1 CL E G H1639168605Perry syndrome168605C1868594OMIM1574212711601143
HP:0002063HP:0002063Rigidity2DDHD1 CL E G H80821101008ORPHA11312819714614603
HP:0002063HP:0002063Rigidity2DHCR24 CL E G H171835107ORPHA1101372859606418
HP:0002063HP:0002063Rigidity2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM1812220603608172
HP:0002063HP:0002063Rigidity2DNAJC6 CL E G H9829391411ORPHA1148315469608375
HP:0002063HP:0002063Rigidity2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM1148315469608375
HP:0002063HP:0002063Rigidity2FBXO7 CL E G H25793171695ORPHA11710913586605648
HP:0002063HP:0002063Rigidity2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM11710913586605648
HP:0002063HP:0002063Rigidity2FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0002063HP:0002063Rigidity2FMR1 CL E G H233293256ORPHA1812813775309550
HP:0002063HP:0002063Rigidity2FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM1818326927613622
HP:0002063HP:0002063Rigidity2FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM161641362604574
HP:0002063HP:0002063Rigidity2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM164913999134790
HP:0002063HP:0002063Rigidity2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0002063HP:0002063Rigidity2GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM12443374189608801
HP:0002063HP:0002063Rigidity2GCH1 CL E G H264398808ORPHA12522084193600225
HP:0002063HP:0002063Rigidity2GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522084193600225
HP:0002063HP:0002063Rigidity2GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15713317494608803
HP:0002063HP:0002063Rigidity2GLRA1 CL E G H27413197Lateral body wall defectORPHA1721994326138491
HP:0002063HP:0002063Rigidity2GLRB CL E G H27433197Lateral body wall defectORPHA1191254329138492
HP:0002063HP:0002063Rigidity2GPHN CL E G H102433197Lateral body wall defectORPHA12015515465603930
HP:0002063HP:0002063Rigidity2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM1541329476602194
HP:0002063HP:0002063Rigidity2HTT CL E G H3064248111ORPHA181274851613004
HP:0002063HP:0002063Rigidity2INPP5K CL E G H51763559ORPHA11013633882607875
HP:0002063HP:0002063Rigidity2ITM2B CL E G H9445176500Dementia familial British176500C1867773OMIM16616174603904
HP:0002063HP:0002063Rigidity2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM1212014203605268
HP:0002063HP:0002063Rigidity2KRAS CL E G H38452396ORPHA1452746407190070
HP:0002063HP:0002063Rigidity2LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM1101106535150000
HP:0002063HP:0002063Rigidity2LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM123321610610236
HP:0002063HP:0002063Rigidity2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM11203796893157140
HP:0002063HP:0002063Rigidity2MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM11203796893157140
HP:0002063HP:0002063Rigidity2MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0002063HP:0002063Rigidity2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM1105014426990300005
HP:0002063HP:0002063Rigidity2NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM11011328625612392
HP:0002063HP:0002063Rigidity2NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM123797981601828
HP:0002063HP:0002063Rigidity2PANK2 CL E G H80025216873ORPHA118219215894606157
HP:0002063HP:0002063Rigidity2PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM118219215894606157
HP:0002063HP:0002063Rigidity2PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM1369116369602533
HP:0002063HP:0002063Rigidity2PDE8B CL E G H8622228169Autosomal dominant striatal neurodegenerationC1836694ORPHA1111348794603390
HP:0002063HP:0002063Rigidity2PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM1111348794603390
HP:0002063HP:0002063Rigidity2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM123448800190040
HP:0002063HP:0002063Rigidity2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1241508804173410
HP:0002063HP:0002063Rigidity2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM113817214581608309
HP:0002063HP:0002063Rigidity2PLA2G6 CL E G H8398199351ORPHA11792899039603604
HP:0002063HP:0002063Rigidity2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM11792899039603604
HP:0002063HP:0002063Rigidity2PLAA CL E G H9373521426ORPHA13849043603873
HP:0002063HP:0002063Rigidity2PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0002063HP:0002063Rigidity2PODXL CL E G H5420391411ORPHA112599171602632
HP:0002063HP:0002063Rigidity2POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130011969179174763
HP:0002063HP:0002063Rigidity2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM130011969179174763
HP:0002063HP:0002063Rigidity2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM14414688607602544
HP:0002063HP:0002063Rigidity2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11091269449176640
HP:0002063HP:0002063Rigidity2PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11091269449176640
HP:0002063HP:0002063Rigidity2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM1112989689612719
HP:0002063HP:0002063Rigidity2RANBP2 CL E G H590388619ORPHA184459848601181
HP:0002063HP:0002063Rigidity2REEP2 CL E G H51308401849ORPHA153517975609347
HP:0002063HP:0002063Rigidity2RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0002063HP:0002063Rigidity2RYR1 CL E G H6261145600Malignant hyperthermia, susceptibility to, 1145600CN031421OMIM1688309410483180901
HP:0002063HP:0002063Rigidity2SIL1 CL E G H64374559ORPHA14916724624608005
HP:0002063HP:0002063Rigidity2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM13831816266606152
HP:0002063HP:0002063Rigidity2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM18918210947158378
HP:0002063HP:0002063Rigidity2SLC30A10 CL E G H55532309854ORPHA1229225355611146
HP:0002063HP:0002063Rigidity2SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM1229225355611146
HP:0002063HP:0002063Rigidity2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM14625911049126455
HP:0002063HP:0002063Rigidity2SLC6A5 CL E G H91523197Lateral body wall defectORPHA13314311051604159
HP:0002063HP:0002063Rigidity2SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125439711120607608
HP:0002063HP:0002063Rigidity2SNCA CL E G H6622171695ORPHA13713011138163890
HP:0002063HP:0002063Rigidity2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM13713011138163890
HP:0002063HP:0002063Rigidity2SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM1611511139603779
HP:0002063HP:0002063Rigidity2SPR CL E G H669770594ORPHA12510011257182125
HP:0002063HP:0002063Rigidity2SYNJ1 CL E G H8867391411ORPHA12745211503604297
HP:0002063HP:0002063Rigidity2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM12745211503604297
HP:0002063HP:0002063Rigidity2TBP CL E G H690898759ORPHA1189111588600075
HP:0002063HP:0002063Rigidity2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM1189111588600075
HP:0002063HP:0002063Rigidity2TH CL E G H7054101150ORPHA17734511782191290
HP:0002063HP:0002063Rigidity2TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM17734511782191290
HP:0002063HP:0002063Rigidity2TMEM240 CL E G H33945398773ORPHA1616325186616101
HP:0002063HP:0002063Rigidity2TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM1815611948191041
HP:0002063HP:0002063Rigidity2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14213920774602662
HP:0002063HP:0002063Rigidity2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM132312511600673
HP:0002063HP:0002063Rigidity2WDR45 CL E G H11152329284ORPHA17834928912300526
HP:0002063HP:0002063Rigidity2WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM17834928912300526
HP:0002063HP:0002063Rigidity2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM15059612799605131
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002063HP:0002063Rigidity0AARS CL E G H16442835ORPHA02120601065
HP:0002063HP:0002063Rigidity0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0217272129102610
HP:0002063HP:0002063Rigidity0AFG3L2 CL E G H10939101109ORPHA040266315604581
HP:0002063HP:0002063Rigidity0AP3B2 CL E G H8120442835ORPHA01290567602166
HP:0002063HP:0002063Rigidity0ARV1 CL E G H64801442835ORPHA035429561611647
HP:0002063HP:0002063Rigidity0ATL1 CL E G H51062100984ORPHA08522011231606439
HP:0002063HP:0002063Rigidity0ATP6V1A CL E G H523442835ORPHA0947851607027
HP:0002063HP:0002063Rigidity0CACNA1A CL E G H773442835ORPHA025113931388601011
HP:0002063HP:0002063Rigidity0CASK CL E G H8573163937ORPHA01194461497300172
HP:0002063HP:0002063Rigidity0CLTC CL E G H1213442835ORPHA014622092118955
HP:0002063HP:0002063Rigidity0CNKSR2 CL E G H22866442835ORPHA0621419701300724
HP:0002063HP:0002063Rigidity0COQ2 CL E G H27235227510ORPHA03310225223609825
HP:0002063HP:0002063Rigidity0CYFIP2 CL E G H26999442835ORPHA034213760606323
HP:0002063HP:0002063Rigidity0DHDDS CL E G H79947442835ORPHA0812220603608172
HP:0002063HP:0002063Rigidity0DNAJC13 CL E G H23317411602ORPHA0165130343614334
HP:0002063HP:0002063Rigidity0DNM1 CL E G H1759442835ORPHA0313242972602377
HP:0002063HP:0002063Rigidity0EEF1A2 CL E G H1917442835ORPHA0122603192602959
HP:0002063HP:0002063Rigidity0EIF4G1 CL E G H1981411602ORPHA020523296600495
HP:0002063HP:0002063Rigidity0FGF12 CL E G H2257442835ORPHA010743668601513
HP:0002063HP:0002063Rigidity0GABRB2 CL E G H2561442835ORPHA0162124082600232
HP:0002063HP:0002063Rigidity0GBA CL E G H2629411602ORPHA04942064177606463
HP:0002063HP:0002063Rigidity0GIGYF2 CL E G H26058411602ORPHA03612611960612003
HP:0002063HP:0002063Rigidity0GRIN2D CL E G H2906442835ORPHA02774588602717
HP:0002063HP:0002063Rigidity0HCN1 CL E G H348980442835ORPHA0402854845602780
HP:0002063HP:0002063Rigidity0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM081274851613004
HP:0002063HP:0002063Rigidity0KCNA2 CL E G H3737442835ORPHA0211296220176262
HP:0002063HP:0002063Rigidity0KCNB1 CL E G H3745442835ORPHA0302786231600397
HP:0002063HP:0002063Rigidity0KIF11 CL E G H38322526ORPHA0701726388148760
HP:0002063HP:0002063Rigidity0LRRK2 CL E G H120892411602ORPHA013838818618609007
HP:0002063HP:0002063Rigidity0LYST CL E G H1130167ORPHA01028071968606897
HP:0002063HP:0002063Rigidity0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM028917154120520
HP:0002063HP:0002063Rigidity0MYO5A CL E G H464433445ORPHA0121167602160777
HP:0002063HP:0002063Rigidity0NECAP1 CL E G H25977442835ORPHA018224539611623
HP:0002063HP:0002063Rigidity0NTRK2 CL E G H4915442835ORPHA013708032600456
HP:0002063HP:0002063Rigidity0NUS1 CL E G H116150442835ORPHA0225721042610463
HP:0002063HP:0002063Rigidity0PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA052339153609023
HP:0002063HP:0002063Rigidity0PPP3CA CL E G H5530442835ORPHA011399314114105
HP:0002063HP:0002063Rigidity0PRKCG CL E G H558298763ORPHA0521859402176980
HP:0002063HP:0002063Rigidity0PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA010550130500614386
HP:0002063HP:0002063Rigidity0PTS CL E G H580513Brain malformationC0266449ORPHA0112989689612719
HP:0002063HP:0002063Rigidity0SCN3A CL E G H6328442835ORPHA01942210590182391
HP:0002063HP:0002063Rigidity0SCN8A CL E G H6334442835ORPHA010375010596600702
HP:0002063HP:0002063Rigidity0SLC13A5 CL E G H284111442835ORPHA02131223089608305
HP:0002063HP:0002063Rigidity0SLC1A2 CL E G H6506442835ORPHA084910940600300
HP:0002063HP:0002063Rigidity0SNCA CL E G H6622411602ORPHA03713011138163890
HP:0002063HP:0002063Rigidity0STUB1 CL E G H10273412057ORPHA03110511427607207
HP:0002063HP:0002063Rigidity0STXBP1 CL E G H6812442835ORPHA019553811444602926
HP:0002063HP:0002063Rigidity0SYNGAP1 CL E G H8831442835ORPHA08651711497603384
HP:0002063HP:0002063Rigidity0SYNJ1 CL E G H8867442835ORPHA02745211503604297
HP:0002063HP:0002063Rigidity0SZT2 CL E G H23334442835ORPHA02595929040615463
HP:0002063HP:0002063Rigidity0TRAK1 CL E G H22906442835ORPHA062529947608112
HP:0002063HP:0002063Rigidity0UBA5 CL E G H79876442835ORPHA0184823230610552
HP:0002063HP:0002063Rigidity0VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM01112623594608879
HP:0002063HP:0002063Rigidity0VPS35 CL E G H55737411602ORPHA02311713487601501
HP:0002063HP:0002063Rigidity0WWOX CL E G H51741442835ORPHA05059612799605131
HP:0002063HP:0002063Rigidity0YWHAG CL E G H7532442835ORPHA055112852605356
HP:0002063HP:0002063Rigidity1AARS CL E G H16442835ORPHA02120601065
HP:0002063HP:0002063Rigidity1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0217272129102610
HP:0002063HP:0002063Rigidity1AFG3L2 CL E G H10939101109ORPHA040266315604581
HP:0002063HP:0002063Rigidity1AP3B2 CL E G H8120442835ORPHA01290567602166
HP:0002063HP:0002063Rigidity1ARV1 CL E G H64801442835ORPHA035429561611647
HP:0002063HP:0002063Rigidity1ATL1 CL E G H51062100984ORPHA08522011231606439
HP:0002063HP:0002063Rigidity1ATP6V1A CL E G H523442835ORPHA0947851607027
HP:0002063HP:0002063Rigidity1CACNA1A CL E G H773442835ORPHA025113931388601011
HP:0002063HP:0002063Rigidity1CASK CL E G H8573163937ORPHA01194461497300172
HP:0002063HP:0002063Rigidity1CLTC CL E G H1213442835ORPHA014622092118955
HP:0002063HP:0002063Rigidity1CNKSR2 CL E G H22866442835ORPHA0621419701300724
HP:0002063HP:0002063Rigidity1COQ2 CL E G H27235227510ORPHA03310225223609825
HP:0002063HP:0002063Rigidity1CYFIP2 CL E G H26999442835ORPHA034213760606323
HP:0002063HP:0002063Rigidity1DHDDS CL E G H79947442835ORPHA0812220603608172
HP:0002063HP:0002063Rigidity1DNAJC13 CL E G H23317411602ORPHA0165130343614334
HP:0002063HP:0002063Rigidity1DNM1 CL E G H1759442835ORPHA0313242972602377
HP:0002063HP:0002063Rigidity1EEF1A2 CL E G H1917442835ORPHA0122603192602959
HP:0002063HP:0002063Rigidity1EIF4G1 CL E G H1981411602ORPHA020523296600495
HP:0002063HP:0002063Rigidity1FGF12 CL E G H2257442835ORPHA010743668601513
HP:0002063HP:0002063Rigidity1GABRB2 CL E G H2561442835ORPHA0162124082600232
HP:0002063HP:0002063Rigidity1GBA CL E G H2629411602ORPHA04942064177606463
HP:0002063HP:0002063Rigidity1GIGYF2 CL E G H26058411602ORPHA03612611960612003
HP:0002063HP:0002063Rigidity1GRIN2D CL E G H2906442835ORPHA02774588602717
HP:0002063HP:0002063Rigidity1HCN1 CL E G H348980442835ORPHA0402854845602780
HP:0002063HP:0002063Rigidity1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM081274851613004
HP:0002063HP:0002063Rigidity1KCNA2 CL E G H3737442835ORPHA0211296220176262
HP:0002063HP:0002063Rigidity1KCNB1 CL E G H3745442835ORPHA0302786231600397
HP:0002063HP:0002063Rigidity1KIF11 CL E G H38322526ORPHA0701726388148760
HP:0002063HP:0002063Rigidity1LRRK2 CL E G H120892411602ORPHA013838818618609007
HP:0002063HP:0002063Rigidity1LYST CL E G H1130167ORPHA01028071968606897
HP:0002063HP:0002063Rigidity1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM028917154120520
HP:0002063HP:0002063Rigidity1MYO5A CL E G H464433445ORPHA0121167602160777
HP:0002063HP:0002063Rigidity1NECAP1 CL E G H25977442835ORPHA018224539611623
HP:0002063HP:0002063Rigidity1NTRK2 CL E G H4915442835ORPHA013708032600456
HP:0002063HP:0002063Rigidity1NUS1 CL E G H116150442835ORPHA0225721042610463
HP:0002063HP:0002063Rigidity1PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA052339153609023
HP:0002063HP:0002063Rigidity1PPP3CA CL E G H5530442835ORPHA011399314114105
HP:0002063HP:0002063Rigidity1PRKCG CL E G H558298763ORPHA0521859402176980
HP:0002063HP:0002063Rigidity1PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA010550130500614386
HP:0002063HP:0002063Rigidity1PTS CL E G H580513Brain malformationC0266449ORPHA0112989689612719
HP:0002063HP:0002063Rigidity1SCN3A CL E G H6328442835ORPHA01942210590182391
HP:0002063HP:0002063Rigidity1SCN8A CL E G H6334442835ORPHA010375010596600702
HP:0002063HP:0002063Rigidity1SLC13A5 CL E G H284111442835ORPHA02131223089608305
HP:0002063HP:0002063Rigidity1SLC1A2 CL E G H6506442835ORPHA084910940600300
HP:0002063HP:0002063Rigidity1SNCA CL E G H6622411602ORPHA03713011138163890
HP:0002063HP:0002063Rigidity1STUB1 CL E G H10273412057ORPHA03110511427607207
HP:0002063HP:0002063Rigidity1STXBP1 CL E G H6812442835ORPHA019553811444602926
HP:0002063HP:0002063Rigidity1SYNGAP1 CL E G H8831442835ORPHA08651711497603384
HP:0002063HP:0002063Rigidity1SYNJ1 CL E G H8867442835ORPHA02745211503604297
HP:0002063HP:0002063Rigidity1SZT2 CL E G H23334442835ORPHA02595929040615463
HP:0002063HP:0002063Rigidity1TRAK1 CL E G H22906442835ORPHA062529947608112
HP:0002063HP:0002063Rigidity1UBA5 CL E G H79876442835ORPHA0184823230610552
HP:0002063HP:0002063Rigidity1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM01112623594608879
HP:0002063HP:0002063Rigidity1VPS35 CL E G H55737411602ORPHA02311713487601501
HP:0002063HP:0002063Rigidity1WWOX CL E G H51741442835ORPHA05059612799605131
HP:0002063HP:0002063Rigidity1YWHAG CL E G H7532442835ORPHA055112852605356
HP:0002063HP:0002063Rigidity2AARS CL E G H16442835ORPHA02120601065
HP:0002063HP:0002063Rigidity2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0217272129102610
HP:0002063HP:0002063Rigidity2AFG3L2 CL E G H10939101109ORPHA040266315604581
HP:0002063HP:0002063Rigidity2AP3B2 CL E G H8120442835ORPHA01290567602166
HP:0002063HP:0002063Rigidity2ARV1 CL E G H64801442835ORPHA035429561611647
HP:0002063HP:0002063Rigidity2ATL1 CL E G H51062100984ORPHA08522011231606439
HP:0002063HP:0002063Rigidity2ATP6V1A CL E G H523442835ORPHA0947851607027
HP:0002063HP:0002063Rigidity2CACNA1A CL E G H773442835ORPHA025113931388601011
HP:0002063HP:0002063Rigidity2CASK CL E G H8573163937ORPHA01194461497300172
HP:0002063HP:0002063Rigidity2CLTC CL E G H1213442835ORPHA014622092118955
HP:0002063HP:0002063Rigidity2CNKSR2 CL E G H22866442835ORPHA0621419701300724
HP:0002063HP:0002063Rigidity2COQ2 CL E G H27235227510ORPHA03310225223609825
HP:0002063HP:0002063Rigidity2CYFIP2 CL E G H26999442835ORPHA034213760606323
HP:0002063HP:0002063Rigidity2DHDDS CL E G H79947442835ORPHA0812220603608172
HP:0002063HP:0002063Rigidity2DNAJC13 CL E G H23317411602ORPHA0165130343614334
HP:0002063HP:0002063Rigidity2DNM1 CL E G H1759442835ORPHA0313242972602377
HP:0002063HP:0002063Rigidity2EEF1A2 CL E G H1917442835ORPHA0122603192602959
HP:0002063HP:0002063Rigidity2EIF4G1 CL E G H1981411602ORPHA020523296600495
HP:0002063HP:0002063Rigidity2FGF12 CL E G H2257442835ORPHA010743668601513
HP:0002063HP:0002063Rigidity2GABRB2 CL E G H2561442835ORPHA0162124082600232
HP:0002063HP:0002063Rigidity2GBA CL E G H2629411602ORPHA04942064177606463
HP:0002063HP:0002063Rigidity2GIGYF2 CL E G H26058411602ORPHA03612611960612003
HP:0002063HP:0002063Rigidity2GRIN2D CL E G H2906442835ORPHA02774588602717
HP:0002063HP:0002063Rigidity2HCN1 CL E G H348980442835ORPHA0402854845602780
HP:0002063HP:0002063Rigidity2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM081274851613004
HP:0002063HP:0002063Rigidity2KCNA2 CL E G H3737442835ORPHA0211296220176262
HP:0002063HP:0002063Rigidity2KCNB1 CL E G H3745442835ORPHA0302786231600397
HP:0002063HP:0002063Rigidity2KIF11 CL E G H38322526ORPHA0701726388148760
HP:0002063HP:0002063Rigidity2LRRK2 CL E G H120892411602ORPHA013838818618609007
HP:0002063HP:0002063Rigidity2LYST CL E G H1130167ORPHA01028071968606897
HP:0002063HP:0002063Rigidity2MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM028917154120520
HP:0002063HP:0002063Rigidity2MYO5A CL E G H464433445ORPHA0121167602160777
HP:0002063HP:0002063Rigidity2NECAP1 CL E G H25977442835ORPHA018224539611623
HP:0002063HP:0002063Rigidity2NTRK2 CL E G H4915442835ORPHA013708032600456
HP:0002063HP:0002063Rigidity2NUS1 CL E G H116150442835ORPHA0225721042610463
HP:0002063HP:0002063Rigidity2PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA052339153609023
HP:0002063HP:0002063Rigidity2PPP3CA CL E G H5530442835ORPHA011399314114105
HP:0002063HP:0002063Rigidity2PRKCG CL E G H558298763ORPHA0521859402176980
HP:0002063HP:0002063Rigidity2PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA010550130500614386
HP:0002063HP:0002063Rigidity2PTS CL E G H580513Brain malformationC0266449ORPHA0112989689612719
HP:0002063HP:0002063Rigidity2SCN3A CL E G H6328442835ORPHA01942210590182391
HP:0002063HP:0002063Rigidity2SCN8A CL E G H6334442835ORPHA010375010596600702
HP:0002063HP:0002063Rigidity2SLC13A5 CL E G H284111442835ORPHA02131223089608305
HP:0002063HP:0002063Rigidity2SLC1A2 CL E G H6506442835ORPHA084910940600300
HP:0002063HP:0002063Rigidity2SNCA CL E G H6622411602ORPHA03713011138163890
HP:0002063HP:0002063Rigidity2STUB1 CL E G H10273412057ORPHA03110511427607207
HP:0002063HP:0002063Rigidity2STXBP1 CL E G H6812442835ORPHA019553811444602926
HP:0002063HP:0002063Rigidity2SYNGAP1 CL E G H8831442835ORPHA08651711497603384
HP:0002063HP:0002063Rigidity2SYNJ1 CL E G H8867442835ORPHA02745211503604297
HP:0002063HP:0002063Rigidity2SZT2 CL E G H23334442835ORPHA02595929040615463
HP:0002063HP:0002063Rigidity2TRAK1 CL E G H22906442835ORPHA062529947608112
HP:0002063HP:0002063Rigidity2UBA5 CL E G H79876442835ORPHA0184823230610552
HP:0002063HP:0002063Rigidity2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM01112623594608879
HP:0002063HP:0002063Rigidity2VPS35 CL E G H55737411602ORPHA02311713487601501
HP:0002063HP:0002063Rigidity2WWOX CL E G H51741442835ORPHA05059612799605131
HP:0002063HP:0002063Rigidity2YWHAG CL E G H7532442835ORPHA055112852605356


Genes (158) :AARS ABCA12 ACTA1 ADAR AFG3L2 AP3B2 ARSA ARV1 ARX ATAD1 ATL1 ATP13A2 ATP6 ATP6AP2 ATP6V1A ATXN2 ATXN3 ATXN8 ATXN8OS BRAT1 C19ORF12 C19orf12 C9ORF72 C9orf72 CACNA1A CASK CHMP2B CLTC CNKSR2 COASY COQ2 CRYAB CSF1R CTSD CYFIP2 DAB1 DCTN1 DDHD1 DHCR24 DHDDS DNAJC13 DNAJC6 DNM1 EEF1A2 EIF4G1 FBXO7 FGF12 FGFR1 FMR1 FOXRED1 FRRS1L FTL GABRB2 GALC GBA GCDH GCH1 GIGYF2 GJC2 GLRA1 GLRB GPHN GRIN2D HCN1 HTRA1 HTT IFIH1 INPP5K ITM2B JPH3 KCNA2 KCNA4 KCNB1 KCND3 KIF11 KRAS LDHA LNPK LRRK2 LYST MAPT MECP2 MICU1 MME MYO5A NDUFAF6 NECAP1 NR4A2 NTRK2 NUP62 NUS1 OPA3 PANK2 PARK7 PDE8B PDGFB PDGFRB PINK1 PLA2G6 PLAA PNKD PODXL POLG POLG2 PPP3CA PRKCG PRKN PRNP PRRT2 PSAP PTS RAB39B RANBP2 REEP2 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RRM2B RYR1 SAMHD1 SCN3A SCN8A SIL1 SLC13A5 SLC19A3 SLC1A2 SLC20A2 SLC25A4 SLC30A10 SLC6A3 SLC6A5 SMPD1 SNCA SNCAIP SPR STUB1 STXBP1 SYNGAP1 SYNJ1 SZT2 TAF1 TBP TH TK2 TMEM240 TNNT1 TRAK1 TREX1 TUBB4A TWNK UBA5 UBTF VPS13C VPS35 WDR45 WWOX YWHAG

Diseases (130) :442835 242500 161800 615010 101109 3175 3197 100984 306674 314632 606693 183090 109150 98760 614498 289560 401901 163937 600795 615643 98933 227510 613869 221820 610127 168605 101008 35107 617836 411602 391411 615528 171695 260300 2396 93256 618241 616981 606159 230900 231670 98808 233910 608804 600142 248111 143100 559 176500 606438 2526 612933 618090 167 260540 601104 300260 300673 617018 33445 618239 168600 216873 234200 606324 228169 609161 213600 605909 199351 612953 521426 617527 98810 157640 258450 98763 600116 137440 603218 261640 13 88619 401849 2636 145600 607483 309854 613280 613135 257200 168601 70594 412057 615530 98759 607136 101150 605407 98773 605355 612438 617672 616840 329284 300894 616211 225154 51 309256 309263 309271 363654 300911 363710 245200 618284 98772 607346 497764 67036 254886 254892 123400 2379 311510 607454 401768 282166 53351
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.