Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal vertebral morphology (HP:0003468)help
Parent Node:
expand
Abnormal form of the vertebral bodies (HP:0003312)help
..Starting node
..expand
Vertebral arch anomaly (HP:0008438)help
Term ID: 8438
Name: Vertebral arch anomaly
Synonym: Vertebral arch abnormalities
Definition: A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.
Comments:
Reference: HP:0008438
Genes and Diseases:
 
       Child Nodes:
........expandCleft vertebral arch (HP:0004616) help
........expandButterfly vertebral arch (HP:0004617) help
........expandNarrow vertebral interpedicular distance (HP:0008450) help
................... HP:0008457 Caudal interpedicular narrowing
................... HP:0008470 Lower thoracic interpediculate narrowness
................... HP:0008484 Thoracolumbar interpediculate narrowness
........expandWidened interpedicular distance (HP:0012679) help
........expandAbnormal vertebral pedicle morphology (HP:0030277) help
................... HP:0004621 Enlarged vertebral pedicles
................... HP:0030278 Hypoplastic vertebral pedicle

 Sister Nodes: 
..expandAbnormality of spinal facet joint (HP:0030870) help
..expandAbnormality of the vertebral endplates (HP:0005106) help
..expandAbnormality of the vertebral spinous processes (HP:0008516) help
..expandAnisospondyly (HP:0002879) help
..expandAnterior concavity of thoracic vertebrae (HP:0004611) help
..expandBeaking of vertebral bodies (HP:0004568) help
..expandBiconcave vertebral bodies (HP:0004586) help
..expandBiconvex vertebral bodies (HP:0004625) help
..expandBifid thoracic vertebrae (HP:0008437) help
..expandCuboid-shaped vertebral bodies (HP:0004634) help
..expandDisc-like vertebral bodies (HP:0004591) help
..expandHemivertebrae (HP:0002937) help
..expandHypoplastic vertebral bodies (HP:0008479) help
..expandIncreased vertebral height (HP:0004570) help
..expandIrregularity of vertebral bodies (HP:0004582) help
..expandOvoid vertebral bodies (HP:0003300) help
..expandPatchy distortion of vertebrae (HP:0004609) help
..expandPear-shaped vertebrae (HP:0004566) help
..expandPlatyspondyly (HP:0000926) help
..expandSandwich appearance of vertebral bodies (HP:0004618) help
..expandTrapezoidal vertebral body (HP:0005621) help
..expandVertebral clefting (HP:0008428) help
..expandVertebral wedging (HP:0008422) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008438HP:0008438Vertebral arch anomaly0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0008438HP:0008438Vertebral arch anomaly0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0008438HP:0008438Vertebral arch anomaly0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0008438HP:0008438Vertebral arch anomaly0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0008438HP:0008438Vertebral arch anomaly0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0008438HP:0008438Vertebral arch anomaly0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0008438HP:0008438Vertebral arch anomaly0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0008438HP:0008438Vertebral arch anomaly0HNRNPR CL E G H102365047OMIM:620073
HP:0008438HP:0008438Vertebral arch anomaly0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0008438HP:0008438Vertebral arch anomaly0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 214
HP:0008438HP:0008438Vertebral arch anomaly0LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short stature12
HP:0008438HP:0008438Vertebral arch anomaly0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0008438HP:0008438Vertebral arch anomaly0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0008438HP:0008438Vertebral arch anomaly0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndrome113
HP:0008438HP:0008438Vertebral arch anomaly0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0008438HP:0008438Vertebral arch anomaly0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0008438HP:0008438Vertebral arch anomaly0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0008438HP:0008438Vertebral arch anomaly0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0008438HP:0008438Vertebral arch anomaly0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0008438HP:0008438Vertebral arch anomaly0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0008438HP:0008438Vertebral arch anomaly0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0008438HP:0012679Widened interpedicular distance1 CL E G H
HP:0008438HP:0008450Narrow vertebral interpedicular distance1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0008438HP:0008450Narrow vertebral interpedicular distance1DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0008438HP:0008450Narrow vertebral interpedicular distance1DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040283 - Occasional
HP:0008438HP:0008450Narrow vertebral interpedicular distance1EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0008438HP:0008450Narrow vertebral interpedicular distance1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0008438HP:0008450Narrow vertebral interpedicular distance1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0008438HP:0008450Narrow vertebral interpedicular distance1HNRNPR CL E G H102365047OMIM:620073
HP:0008438HP:0004617Butterfly vertebral arch1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0008438HP:0008450Narrow vertebral interpedicular distance1KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 214
HP:0008438HP:0008450Narrow vertebral interpedicular distance1LTBP3 CL E G H40546716OMIM:601216Dental anomalies and short stature.12
HP:0008438HP:0008450Narrow vertebral interpedicular distance1NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0008438HP:0008450Narrow vertebral interpedicular distance1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0008438HP:0008450Narrow vertebral interpedicular distance1PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndrome113
HP:0008438HP:0008450Narrow vertebral interpedicular distance1PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0008438HP:0008450Narrow vertebral interpedicular distance1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0008438HP:0008450Narrow vertebral interpedicular distance1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0008438HP:0004616Cleft vertebral arch1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0008438HP:0008450Narrow vertebral interpedicular distance1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0008438HP:0030277Abnormal vertebral pedicle morphology1SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0008438HP:0008450Narrow vertebral interpedicular distance1TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0008438HP:0030278Hypoplastic vertebral pedicle2 CL E G H
HP:0008438HP:0008470Lower thoracic interpediculate narrowness2GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0008438HP:0008457Caudal interpedicular narrowing2KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0008438HP:0008484Thoracolumbar interpediculate narrowness2NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0008438HP:0008457Caudal interpedicular narrowing2PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0008438HP:0004621Enlarged vertebral pedicles2SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0008438HP:0008457Caudal interpedicular narrowing2TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0008438HP:0030279Hypoplastic L5 vertebral pedicle3 CL E G H
HP:0008438HP:0008486Lumbar interpedicular narrowing3TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.


Genes (18) :ANKRD11 CHST3 DDRGK1 EXOC6B FGFR3 GNPTAB HNRNPR JAG1 KIF22 LTBP3 NPR2 PDE4D PRKAR1A RMRP RNU4ATAC SLC35D1 SMAD4 TONSL

Diseases (20) :OMIM:148050 OMIM:143095 OMIM:602557 ORPHA:93352 OMIM:618395 OMIM:100800 OMIM:252500 OMIM:620073 OMIM:118450 OMIM:603546 OMIM:601216 OMIM:602875 ORPHA:280651 ORPHA:439822 OMIM:101800 OMIM:250250 OMIM:210710 OMIM:269250 OMIM:139210 OMIM:271510
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.