Human Phenotype Ontology 
Grandparent Node:
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Kyphosis (HP:0002808)help
Grandparent Node:
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Scoliosis (HP:0002650)help
Parent Node:
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Kyphoscoliosis (HP:0002751)help
..Starting node
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Congenital kyphoscoliosis (HP:0008453)help
Term ID: 8453
Name: Congenital kyphoscoliosis
Synonym:
Definition:
Comments:
Reference: HP:0008453
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLumbar kyphoscoliosis (HP:0004619) help
..expandThoracolumbar kyphoscoliosis (HP:0003423) 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:0008453HP:0008453Congenital kyphoscoliosis0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0008453HP:0008453Congenital kyphoscoliosis0FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactylyHP:0040281 - Very frequent655
HP:0008453HP:0008453Congenital kyphoscoliosis0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital.655


Genes (2) :B3GALT6 FBN2

Diseases (3) :ORPHA:536467 ORPHA:115 OMIM:121050
 

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