Human Phenotype Ontology 
Grandparent Node:
expandAbnormal axial skeleton morphology (HP:0009121)help
Parent Node:
expandAbnormality of the vertebral column (HP:0000925)help
..Starting node
..expandSpinal instability (HP:0005881)help
Term ID: 5881
Name: Spinal instability
Synonym:
Definition:
Comments:
Reference: HP:0005881
Genes and Diseases:
 
       Child Nodes:
........expandCervical instability (HP:0008462) help

 Sister Nodes: 
..expandAbnormal coccyx morphology (HP:0008519) help
..expandAbnormal intervertebral disk morphology (HP:0005108) 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 odontoid process (HP:0003310) help
..expandAplasia/Hypoplasia involving the vertebral column (HP:0008518) help
..expandAtlantoaxial abnormality (HP:0003413) help
..expandBack pain (HP:0003418) help
..expandNeuropathic spinal arthropathy (HP:0008443) help
..expandReversed usual vertebral column curves (HP:0008433) help
..expandSpinal canal stenosis (HP:0003416) help
..expandSpinal dysplasia (HP:0008423) help
..expandSpinal rigidity (HP:0003306) help
..expandSpondylolisthesis (HP:0003302) help
..expandSpondylolysis (HP:0003304) 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:0005881HP:0005881Spinal instability0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick type284
HP:0005881HP:0005881Spinal instability0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0005881HP:0005881Spinal instability0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0005881HP:0005881Spinal instability0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0005881HP:0005881Spinal instability0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome138
HP:0005881HP:0008462Cervical instability1COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick typeHP:0040282 - Frequent284
HP:0005881HP:0008462Cervical instability1COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0005881HP:0008462Cervical instability1EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalitiesHP:0040283 - Occasional3
HP:0005881HP:0008462Cervical instability1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0005881HP:0008462Cervical instability1NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138


Genes (3) :COL2A1 EXTL3 NOTCH2

Diseases (5) :ORPHA:93346 ORPHA:94068 OMIM:617425 ORPHA:508533 OMIM:102500
 

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