Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the vertebral column (HP:0000925)help
Parent Node:
expandAbnormal epiphysis morphology (HP:0005930)help
Parent Node:
expandAbnormal vertebral morphology (HP:0003468)help
..Starting node
..expandAbnormality of vertebral epiphysis morphology (HP:0100734)help
Term ID: 100734
Name: Abnormality of vertebral epiphysis morphology
Synonym: Abnormal shape of the end part of the vertebra bone; Abnormality of the vertebral epiphyses
Definition: An anomaly of one or more epiphyses of one or more vertebrae.
Comments:
Reference: HP:0100734
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal form of the vertebral bodies (HP:0003312) help
..expandAbnormal number of vertebrae (HP:0030304) 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:0100734HP:0100734Abnormality of vertebral epiphysis morphology0COL2A1 CL E G H12802200ORPHA:90653Stickler syndrome type 1HP:0040282 - Frequent284


Genes (1) :COL2A1

Diseases (1) :ORPHA:90653
 

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