Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the vertebral column (HP:0000925)help
Parent Node:
expandAbnormality of the curvature of the vertebral column (HP:0010674)help
..Starting node
..expandCamptocormia (HP:0100595)help
Term ID: 100595
Name: Camptocormia
Synonym:
Definition: An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.
Comments:
Reference: HP:0100595
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cervical curvature (HP:0005905) help
..expandAbnormally straight spine (HP:0100795) help
..expandHyperlordosis (HP:0003307) help
..expandKyphosis (HP:0002808) help
..expandScoliosis (HP:0002650) 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:0100595HP:0100595Camptocormia0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0100595HP:0100595Camptocormia0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040283 - Occasional54
HP:0100595HP:0100595Camptocormia0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040283 - Occasional54
HP:0100595HP:0100595Camptocormia0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1


Genes (3) :ADCY5 COQ2 SLC30A9

Diseases (4) :OMIM:606703 ORPHA:227510 ORPHA:98933 OMIM:617595
 

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