Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the curvature of the vertebral column (HP:0010674)help
Parent Node:
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Scoliosis (HP:0002650)help
..Starting node
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Progressive congenital scoliosis (HP:0008458)help
Term ID: 8458
Name: Progressive congenital scoliosis
Synonym:
Definition: A progressive form of scoliosis with congenital onset.
Comments:
Reference: HP:0008458
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCompensatory scoliosis (HP:0100884) help
..expandKyphoscoliosis (HP:0002751) help
..expandThoracic scoliosis (HP:0002943) help
..expandThoracolumbar scoliosis (HP:0002944) 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:0008458HP:0008458Progressive congenital scoliosis0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0008458HP:0008458Progressive congenital scoliosis0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040282 - Frequent14


Genes (2) :PLOD1 STAC3

Diseases (2) :OMIM:225400 ORPHA:168572
 

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