Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the vertebral column (HP:0000925)help
Parent Node:
expandAbnormal vertebral morphology (HP:0003468)help
..Starting node
..expandAbnormal number of vertebrae (HP:0030304)help
Term ID: 30304
Name: Abnormal number of vertebrae
Synonym:
Definition: A deviation from the normal number of vertebrae in the spinal column.
Comments:
Reference: HP:0030304
Genes and Diseases:
 
       Child Nodes:
........expandSupernumerary vertebrae (HP:0002946) help
................... HP:0008416 Six lumbar vertebrae
........expandDecreased number of vertebrae (HP:0030305) help
................... HP:0030306 11 thoracic vertebrae

 Sister Nodes: 
..expandAbnormal form of the vertebral bodies (HP:0003312) help
..expandAbnormality of vertebral epiphysis morphology (HP:0100734) help
..expandAbnormally ossified vertebrae (HP:0100569) help
..expandAplasia/Hypoplasia of the vertebrae (HP:0008515) help
..expandDysplasia of second lumbar vertebra (HP:0004589) help
..expandModic type vertebral endplate changes (HP:0030775) help
..expandMorbus Scheuermann (HP:0010891) help
..expandMultiple small vertebral fractures (HP:0005877) help
..expandOsteoporosis of vertebrae (HP:0005625) help
..expandPunctate vertebral calcifications (HP:0008420) help
..expandSchmorl's node (HP:0030041) help
..expandSclerotic vertebral body (HP:0100861) help
..expandVertebral compression fracture (HP:0002953) help
..expandVertebral hyperostosis (HP:0008442) help
..expandVertebral segmentation defect (HP:0003422) 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:0030304HP:0030304Abnormal number of vertebrae0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis59
HP:0030304HP:0030304Abnormal number of vertebrae0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0030304HP:0030304Abnormal number of vertebrae0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0030304HP:0030304Abnormal number of vertebrae0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0030304HP:0030304Abnormal number of vertebrae0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0030304HP:0030305Decreased number of vertebrae1 CL E G H
HP:0030304HP:0002946Supernumerary vertebrae1DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0030304HP:0002946Supernumerary vertebrae1GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0030304HP:0002946Supernumerary vertebrae1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0030304HP:0002946Supernumerary vertebrae1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0030304HP:0002946Supernumerary vertebrae1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0030304HP:003030611 thoracic vertebrae2 CL E G H
HP:0030304HP:0008416Six lumbar vertebrae2GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0030304HP:0008416Six lumbar vertebrae2GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0030304HP:0008416Six lumbar vertebrae2GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1


Genes (5) :DHODH GDF11 GPC3 GPC4 PAX3

Diseases (4) :OMIM:263750 OMIM:619122 OMIM:312870 OMIM:193500
 

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