Human Phenotype Ontology 
Grandparent Node:
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Abnormal axial skeleton morphology (HP:0009121)help
Parent Node:
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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 H58171439ORPHA1392129102610
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H5897244ORPHA1392129102610
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0003306HP:0003306Spinal rigidity0ACVR1 CL E G H90337ORPHA1169171102576
HP:0003306HP:0003306Spinal rigidity0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0003306HP:0003306Spinal rigidity0CAPN3 CL E G H825267ORPHA112881480114240
HP:0003306HP:0003306Spinal rigidity0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003306HP:0003306Spinal rigidity0COL12A1 CL E G H130375840ORPHA119442188120320
HP:0003306HP:0003306Spinal rigidity0COL6A1 CL E G H129175840ORPHA114702211120220
HP:0003306HP:0003306Spinal rigidity0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0003306HP:0003306Spinal rigidity0COL6A2 CL E G H129275840ORPHA116442212120240
HP:0003306HP:0003306Spinal rigidity0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0003306HP:0003306Spinal rigidity0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0003306HP:0003306Spinal rigidity0COL6A3 CL E G H129375840ORPHA124142213120250
HP:0003306HP:0003306Spinal rigidity0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0003306HP:0003306Spinal rigidity0EMD CL E G H201098863ORPHA16183331300384
HP:0003306HP:0003306Spinal rigidity0FHL1 CL E G H227398863ORPHA15173702300163
HP:0003306HP:0003306Spinal rigidity0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15173702300163
HP:0003306HP:0003306Spinal rigidity0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0003306HP:0003306Spinal rigidity0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM17833622607440
HP:0003306HP:0003306Spinal rigidity0HSPG2 CL E G H3339800ORPHA118305273142461
HP:0003306HP:0003306Spinal rigidity0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115733882607875
HP:0003306HP:0003306Spinal rigidity0KBTBD13 CL E G H390594171439ORPHA143137227613727
HP:0003306HP:0003306Spinal rigidity0KLHL41 CL E G H10324171439ORPHA122016905607701
HP:0003306HP:0003306Spinal rigidity0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H400098853ORPHA116226636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H400098855ORPHA116226636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H4000157973ORPHA116226636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM116226636150330
HP:0003306HP:0003306Spinal rigidity0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM116226636150330
HP:0003306HP:0003306Spinal rigidity0MGME1 CL E G H92667352447ORPHA17816205615076
HP:0003306HP:0003306Spinal rigidity0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0003306HP:0003306Spinal rigidity0MYH7 CL E G H4625324604ORPHA136127577160760
HP:0003306HP:0003306Spinal rigidity0MYPN CL E G H84665171439ORPHA1126323246608517
HP:0003306HP:0003306Spinal rigidity0NEB CL E G H4703171439ORPHA164447720161650
HP:0003306HP:0003306Spinal rigidity0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0003306HP:0003306Spinal rigidity0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM125525896610277
HP:0003306HP:0003306Spinal rigidity0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM17379202607423
HP:0003306HP:0003306Spinal rigidity0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM176619743607439
HP:0003306HP:0003306Spinal rigidity0SELENON CL E G H57190324604ORPHA153715999606210
HP:0003306HP:0003306Spinal rigidity0SELENON CL E G H5719097244ORPHA153715999606210
HP:0003306HP:0003306Spinal rigidity0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM153715999606210
HP:0003306HP:0003306Spinal rigidity0SYNE1 CL E G H2334598853ORPHA1459817089608441
HP:0003306HP:0003306Spinal rigidity0SYNE2 CL E G H2322498853ORPHA1249717084608442
HP:0003306HP:0003306Spinal rigidity0TMEM43 CL E G H7918898853ORPHA174028472612048
HP:0003306HP:0003306Spinal rigidity0TOR1AIP1 CL E G H26092617072Muscular dystrophy, limb-girdle, type 2y617072C4310731OMIM133229456614512
HP:0003306HP:0003306Spinal rigidity0TPM2 CL E G H7169171439ORPHA128012011190990
HP:0003306HP:0003306Spinal rigidity0TPM3 CL E G H7170171439ORPHA130012012191030
HP:0003306HP:0003306Spinal rigidity0TRIP4 CL E G H9325486815ORPHA113912310604501
HP:0003306HP:0003306Spinal rigidity0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM113912310604501
HP:0003306HP:0003306Spinal rigidity0TTN CL E G H7273324604ORPHA12285912403188840
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003306HP:0003306Spinal rigidity0ACTA1 CL E G H58171436ORPHA0392129102610
HP:0003306HP:0003306Spinal rigidity0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0213325603100
HP:0003306HP:0003306Spinal rigidity0AGRN CL E G H37579098914ORPHA01782329103320
HP:0003306HP:0003306Spinal rigidity0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA043515832606158
HP:0003306HP:0003306Spinal rigidity0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01151527601047
HP:0003306HP:0003306Spinal rigidity0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01129688603198
HP:0003306HP:0003306Spinal rigidity0CFL2 CL E G H1073171436ORPHA01471875601443
HP:0003306HP:0003306Spinal rigidity0CHAT CL E G H110398914ORPHA07711912118490
HP:0003306HP:0003306Spinal rigidity0COL13A1 CL E G H130598914ORPHA03972190120350
HP:0003306HP:0003306Spinal rigidity0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM03972190120350
HP:0003306HP:0003306Spinal rigidity0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0003306HP:0003306Spinal rigidity0KLHL41 CL E G H10324171436ORPHA022016905607701
HP:0003306HP:0003306Spinal rigidity0LMOD3 CL E G H56203171436ORPHA03266649616112
HP:0003306HP:0003306Spinal rigidity0MYO9A CL E G H464998914ORPHA01727608604875
HP:0003306HP:0003306Spinal rigidity0NEB CL E G H4703171436ORPHA064447720161650
HP:0003306HP:0003306Spinal rigidity0POMT1 CL E G H1058586812ORPHA07379202607423
HP:0003306HP:0003306Spinal rigidity0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01399236601487
HP:0003306HP:0003306Spinal rigidity0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM044326162617220
HP:0003306HP:0003306Spinal rigidity0SLC18A3 CL E G H657298914ORPHA021510936600336
HP:0003306HP:0003306Spinal rigidity0SLC25A1 CL E G H657698914ORPHA050510979190315
HP:0003306HP:0003306Spinal rigidity0SLC5A7 CL E G H6048298914ORPHA037514025608761
HP:0003306HP:0003306Spinal rigidity0SNAP25 CL E G H661698914ORPHA019111132600322
HP:0003306HP:0003306Spinal rigidity0SYT2 CL E G H12783398914ORPHA016011510600104
HP:0003306HP:0003306Spinal rigidity0TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM043717103610032
HP:0003306HP:0003306Spinal rigidity0TPM2 CL E G H7169171436ORPHA028012011190990
HP:0003306HP:0003306Spinal rigidity0VAMP1 CL E G H684398914ORPHA011812642185880


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) :171436 97244 171439 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.