Human Phenotype Ontology 
Grandparent Node:
expandAbnormal vertebral morphology (HP:0003468)help
Parent Node:
expandAbnormal form of the vertebral bodies (HP:0003312)help
..Starting node
..expandIrregularity of vertebral bodies (HP:0004582)help
Term ID: 4582
Name: Irregularity of vertebral bodies
Synonym:
Definition:
Comments:
Reference: HP:0004582
Genes and Diseases:
 
       Child Nodes:

 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
..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 arch anomaly (HP:0008438) 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:0004582HP:0004582Irregularity of vertebral bodies0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040282 - Frequent
HP:0004582HP:0004582Irregularity of vertebral bodies0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0004582HP:0004582Irregularity of vertebral bodies0COG4 CL E G H2583918620ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson typeHP:0040281 - Very frequent67


Genes (3) :CCN6 COG1 COG4

Diseases (3) :ORPHA:1159 ORPHA:263508 ORPHA:85172
 

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