Human Phenotype Ontology 
Grandparent Node:
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Abnormal axial skeleton morphology (HP:0009121)help
Parent Node:
expand
Abnormality of the vertebral column (HP:0000925)help
..Starting node
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Spinal rigidity (HP:0003306)help
Term ID: 3306
Name: Spinal rigidity
Synonym: Reduced spine movement; Rigid spine
Definition: Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
Comments:
Reference: HP:0003306
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal coccyx morphology (HP:0008519) help
..expandAbnormal lumbar spine morphology (HP:0100712) help
..expandAbnormal sacrum morphology (HP:0005107) help
..expandAbnormal thoracic spine morphology (HP:0100711) help
..expandAbnormal vertebral morphology (HP:0003468) help
..expandAbnormality of the cervical spine (HP:0003319) help
..expandAbnormality of the curvature of the vertebral column (HP:0010674) help
..expandAbnormality of the intervertebral disk (HP:0005108) help
..expandAbnormality of the odontoid process (HP:0003310) help
..expandAplasia/Hypoplasia involving the vertebral column (HP:0008518) help
..expandAtlantoaxial abnormality (HP:0003413) help
..expandBack pain (HP:0003418) help
..expandReversed usual vertebral column curves (HP:0008433) help
..expandSpinal canal stenosis (HP:0003416) help
..expandSpinal deformities (HP:0008443) help
..expandSpinal dysplasia (HP:0008423) help
..expandSpinal instability (HP:0005881) help
..expandSpondylolisthesis (HP:0003302) help
..expandSpondylolysis (HP:0003304) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H5897244ORPHA1362129102610
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H58171439ORPHA1362129102610
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H5897244ORPHA1325129102610
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H58171439ORPHA1325129102610
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0003306HP:0003306Spinal rigidity0ACVR1 CL E G H90337ORPHA1141171102576
HP:0003306HP:0003306Spinal rigidity0ACVR1 CL E G H90337ORPHA1122171102576
HP:0003306HP:0003306Spinal rigidity0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003306HP:0003306Spinal rigidity0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003306HP:0003306Spinal rigidity0CAPN3 CL E G H825267ORPHA110471480114240
HP:0003306HP:0003306Spinal rigidity0CAPN3 CL E G H825267ORPHA111421480114240
HP:0003306HP:0003306Spinal rigidity0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003306HP:0003306Spinal rigidity0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003306HP:0003306Spinal rigidity0COL12A1 CL E G H130375840ORPHA116782188120320
HP:0003306HP:0003306Spinal rigidity0COL12A1 CL E G H130375840ORPHA113672188120320
HP:0003306HP:0003306Spinal rigidity0COL6A1 CL E G H129175840ORPHA113422211120220
HP:0003306HP:0003306Spinal rigidity0COL6A1 CL E G H129175840ORPHA112192211120220
HP:0003306HP:0003306Spinal rigidity0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0003306HP:0003306Spinal rigidity0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0003306HP:0003306Spinal rigidity0COL6A2 CL E G H129275840ORPHA115122212120240
HP:0003306HP:0003306Spinal rigidity0COL6A2 CL E G H129275840ORPHA113702212120240
HP:0003306HP:0003306Spinal rigidity0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM115122212120240
HP:0003306HP:0003306Spinal rigidity0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM113702212120240
HP:0003306HP:0003306Spinal rigidity0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0003306HP:0003306Spinal rigidity0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0003306HP:0003306Spinal rigidity0COL6A3 CL E G H129375840ORPHA122332213120250
HP:0003306HP:0003306Spinal rigidity0COL6A3 CL E G H129375840ORPHA119712213120250
HP:0003306HP:0003306Spinal rigidity0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0003306HP:0003306Spinal rigidity0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0003306HP:0003306Spinal rigidity0EMD CL E G H201098863ORPHA15793331300384
HP:0003306HP:0003306Spinal rigidity0EMD CL E G H201098863ORPHA15303331300384
HP:0003306HP:0003306Spinal rigidity0FHL1 CL E G H227398863ORPHA14863702300163
HP:0003306HP:0003306Spinal rigidity0FHL1 CL E G H227398863ORPHA14373702300163
HP:0003306HP:0003306Spinal rigidity0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003306HP:0003306Spinal rigidity0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003306HP:0003306Spinal rigidity0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0003306HP:0003306Spinal rigidity0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0003306HP:0003306Spinal rigidity0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM16793622607440
HP:0003306HP:0003306Spinal rigidity0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM15993622607440
HP:0003306HP:0003306Spinal rigidity0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003306HP:0003306Spinal rigidity0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003306HP:0003306Spinal rigidity0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115333882607875
HP:0003306HP:0003306Spinal rigidity0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM114533882607875
HP:0003306HP:0003306Spinal rigidity0KBTBD13 CL E G H390594171439ORPHA138837227613727
HP:0003306HP:0003306Spinal rigidity0KBTBD13 CL E G H390594171439ORPHA131637227613727
HP:0003306HP:0003306Spinal rigidity0KLHL41 CL E G H10324171439ORPHA119916905607701
HP:0003306HP:0003306Spinal rigidity0KLHL41 CL E G H10324171439ORPHA115716905607701
HP:0003306HP:0003306Spinal rigidity0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17926576605739
HP:0003306HP:0003306Spinal rigidity0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17826576605739
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H400098853ORPHA114866636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H400098855ORPHA114866636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H400098853ORPHA113476636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H400098855ORPHA113476636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H4000157973ORPHA114866636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H4000157973ORPHA113476636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM113476636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM114866636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM113476636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM114866636150330
HP:0003306HP:0003306Spinal rigidity0MGME1 CL E G H92667352447ORPHA17516205615076
HP:0003306HP:0003306Spinal rigidity0MGME1 CL E G H92667352447ORPHA16916205615076
HP:0003306HP:0003306Spinal rigidity0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM16916205615076
HP:0003306HP:0003306Spinal rigidity0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17516205615076
HP:0003306HP:0003306Spinal rigidity0MYH7 CL E G H4625324604ORPHA132927577160760
HP:0003306HP:0003306Spinal rigidity0MYH7 CL E G H4625324604ORPHA129607577160760
HP:0003306HP:0003306Spinal rigidity0MYPN CL E G H84665171439ORPHA1103323246608517
HP:0003306HP:0003306Spinal rigidity0MYPN CL E G H84665171439ORPHA188723246608517
HP:0003306HP:0003306Spinal rigidity0NEB CL E G H4703171439ORPHA153137720161650
HP:0003306HP:0003306Spinal rigidity0NEB CL E G H4703171439ORPHA146747720161650
HP:0003306HP:0003306Spinal rigidity0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0003306HP:0003306Spinal rigidity0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0003306HP:0003306Spinal rigidity0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0003306HP:0003306Spinal rigidity0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0003306HP:0003306Spinal rigidity0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16869202607423
HP:0003306HP:0003306Spinal rigidity0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16099202607423
HP:0003306HP:0003306Spinal rigidity0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM169119743607439
HP:0003306HP:0003306Spinal rigidity0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM160419743607439
HP:0003306HP:0003306Spinal rigidity0SELENON CL E G H57190324604ORPHA150515999606210
HP:0003306HP:0003306Spinal rigidity0SELENON CL E G H57190324604ORPHA145415999606210
HP:0003306HP:0003306Spinal rigidity0SELENON CL E G H5719097244ORPHA150515999606210
HP:0003306HP:0003306Spinal rigidity0SELENON CL E G H5719097244ORPHA145415999606210
HP:0003306HP:0003306Spinal rigidity0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM150515999606210
HP:0003306HP:0003306Spinal rigidity0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM145415999606210
HP:0003306HP:0003306Spinal rigidity0SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0003306HP:0003306Spinal rigidity0SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0003306HP:0003306Spinal rigidity0SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0003306HP:0003306Spinal rigidity0SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0003306HP:0003306Spinal rigidity0TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0003306HP:0003306Spinal rigidity0TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0003306HP:0003306Spinal rigidity0TOR1AIP1 CL E G H26092617072Muscular dystrophy, limb-girdle, type 2y617072C4310731OMIM125929456614512
HP:0003306HP:0003306Spinal rigidity0TOR1AIP1 CL E G H26092617072Muscular dystrophy, limb-girdle, type 2y617072C4310731OMIM131029456614512
HP:0003306HP:0003306Spinal rigidity0TPM2 CL E G H7169171439ORPHA124212011190990
HP:0003306HP:0003306Spinal rigidity0TPM2 CL E G H7169171439ORPHA123412011190990
HP:0003306HP:0003306Spinal rigidity0TPM3 CL E G H7170171439ORPHA128312012191030
HP:0003306HP:0003306Spinal rigidity0TPM3 CL E G H7170171439ORPHA126112012191030
HP:0003306HP:0003306Spinal rigidity0TRIP4 CL E G H9325486815ORPHA113112310604501
HP:0003306HP:0003306Spinal rigidity0TRIP4 CL E G H9325486815ORPHA112112310604501
HP:0003306HP:0003306Spinal rigidity0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM113112310604501
HP:0003306HP:0003306Spinal rigidity0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM112112310604501
HP:0003306HP:0003306Spinal rigidity0TTN CL E G H7273324604ORPHA11902812403188840
HP:0003306HP:0003306Spinal rigidity0TTN CL E G H7273324604ORPHA11798412403188840
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H58171436ORPHA0362129102610
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H58171436ORPHA0325129102610
HP:0003306HP:0003306Spinal rigidity0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0203325603100
HP:0003306HP:0003306Spinal rigidity0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0205325603100
HP:0003306HP:0003306Spinal rigidity0AGRN CL E G H37579098914ORPHA01579329103320
HP:0003306HP:0003306Spinal rigidity0AGRN CL E G H37579098914ORPHA01309329103320
HP:0003306HP:0003306Spinal rigidity0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA037315832606158
HP:0003306HP:0003306Spinal rigidity0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA033015832606158
HP:0003306HP:0003306Spinal rigidity0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0811527601047
HP:0003306HP:0003306Spinal rigidity0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0851527601047
HP:0003306HP:0003306Spinal rigidity0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01109688603198
HP:0003306HP:0003306Spinal rigidity0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01099688603198
HP:0003306HP:0003306Spinal rigidity0CFL2 CL E G H1073171436ORPHA01391875601443
HP:0003306HP:0003306Spinal rigidity0CFL2 CL E G H1073171436ORPHA01281875601443
HP:0003306HP:0003306Spinal rigidity0CHAT CL E G H110398914ORPHA06521912118490
HP:0003306HP:0003306Spinal rigidity0CHAT CL E G H110398914ORPHA05111912118490
HP:0003306HP:0003306Spinal rigidity0COL13A1 CL E G H130598914ORPHA02942190120350
HP:0003306HP:0003306Spinal rigidity0COL13A1 CL E G H130598914ORPHA01792190120350
HP:0003306HP:0003306Spinal rigidity0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM01792190120350
HP:0003306HP:0003306Spinal rigidity0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM02942190120350
HP:0003306HP:0003306Spinal rigidity0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0003306HP:0003306Spinal rigidity0KLHL41 CL E G H10324171436ORPHA019916905607701
HP:0003306HP:0003306Spinal rigidity0KLHL41 CL E G H10324171436ORPHA015716905607701
HP:0003306HP:0003306Spinal rigidity0LMOD3 CL E G H56203171436ORPHA03086649616112
HP:0003306HP:0003306Spinal rigidity0LMOD3 CL E G H56203171436ORPHA02406649616112
HP:0003306HP:0003306Spinal rigidity0MYO9A CL E G H464998914ORPHA01687608604875
HP:0003306HP:0003306Spinal rigidity0MYO9A CL E G H464998914ORPHA01647608604875
HP:0003306HP:0003306Spinal rigidity0NEB CL E G H4703171436ORPHA053137720161650
HP:0003306HP:0003306Spinal rigidity0NEB CL E G H4703171436ORPHA046747720161650
HP:0003306HP:0003306Spinal rigidity0POMT1 CL E G H1058586812ORPHA06869202607423
HP:0003306HP:0003306Spinal rigidity0POMT1 CL E G H1058586812ORPHA06099202607423
HP:0003306HP:0003306Spinal rigidity0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01249236601487
HP:0003306HP:0003306Spinal rigidity0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01089236601487
HP:0003306HP:0003306Spinal rigidity0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM022926162617220
HP:0003306HP:0003306Spinal rigidity0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM031826162617220
HP:0003306HP:0003306Spinal rigidity0SLC18A3 CL E G H657298914ORPHA016510936600336
HP:0003306HP:0003306Spinal rigidity0SLC18A3 CL E G H657298914ORPHA010210936600336
HP:0003306HP:0003306Spinal rigidity0SLC25A1 CL E G H657698914ORPHA049810979190315
HP:0003306HP:0003306Spinal rigidity0SLC25A1 CL E G H657698914ORPHA047010979190315
HP:0003306HP:0003306Spinal rigidity0SLC5A7 CL E G H6048298914ORPHA031514025608761
HP:0003306HP:0003306Spinal rigidity0SLC5A7 CL E G H6048298914ORPHA025914025608761
HP:0003306HP:0003306Spinal rigidity0SNAP25 CL E G H661698914ORPHA014811132600322
HP:0003306HP:0003306Spinal rigidity0SNAP25 CL E G H661698914ORPHA012711132600322
HP:0003306HP:0003306Spinal rigidity0SYT2 CL E G H12783398914ORPHA012311510600104
HP:0003306HP:0003306Spinal rigidity0SYT2 CL E G H12783398914ORPHA07911510600104
HP:0003306HP:0003306Spinal rigidity0TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM032317103610032
HP:0003306HP:0003306Spinal rigidity0TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM037217103610032
HP:0003306HP:0003306Spinal rigidity0TPM2 CL E G H7169171436ORPHA024212011190990
HP:0003306HP:0003306Spinal rigidity0TPM2 CL E G H7169171436ORPHA023412011190990
HP:0003306HP:0003306Spinal rigidity0VAMP1 CL E G H684398914ORPHA09912642185880
HP:0003306HP:0003306Spinal rigidity0VAMP1 CL E G H684398914ORPHA08312642185880


Genes (53) :ACTA1 ACVR1 AGPAT2 AGRN BAG3 BSCL2 CAPN3 CAV1 CAVIN1 CFL2 CHAT COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 EMD FHL1 FKTN FOS HSPG2 INPP5K KBTBD13 KLHL41 KY LMNA LMOD3 MGME1 MYH7 MYO9A MYPN NEB ORAI1 POMT1 POMT2 PPARG PYROXD1 SELENON SLC18A3 SLC25A1 SLC5A7 SNAP25 SYNE1 SYNE2 SYT2 TMEM43 TNPO3 TOR1AIP1 TPM2 TPM3 TRIP4 TTN VAMP1

Diseases (40) :171439 171436 97244 161800 337 528 98914 612954 267 613327 75840 616720 254090 255600 98863 300696 300718 253800 800 617404 617114 98855 157973 98853 181350 613205 352447 615084 324604 256030 615883 86812 609308 613150 617258 602771 608423 617072 486815 617066
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.