Human Phenotype Ontology 
Grandparent Node:
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Thoracolumbar scoliosis (HP:0002944)help
Parent Node:
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Kyphoscoliosis (HP:0002751)help
Parent Node:
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Lumbar kyphosis (HP:0008454)help
Parent Node:
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Lumbar scoliosis (HP:0004626)help
..Starting node
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Lumbar kyphoscoliosis (HP:0004619)help
Term ID: 4619
Name: Lumbar kyphoscoliosis
Synonym:
Definition:
Comments:
Reference: HP:0004619
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004619HP:0004619Lumbar kyphoscoliosis0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0004619HP:0004619Lumbar kyphoscoliosis0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284


Genes (2) :ATG7 COL2A1

Diseases (2) :OMIM:619422 OMIM:156550
 

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