Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of joint mobility (HP:0011729)help
Parent Node:
expandLimitation of joint mobility (HP:0001376)help
..Starting node
..expandRestricted large joint movement (HP:0005193)help
Term ID: 5193
Name: Restricted large joint movement
Synonym:
Definition:
Comments:
Reference: HP:0005193
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnkylosis (HP:0031013) help
..expandDecreased movement range in interphalangeal joints (HP:0006203) help
..expandJoint stiffness (HP:0001387) help
..expandLimitation of knee mobility (HP:0010501) help
..expandLimitation of movement at ankles (HP:0010505) help
..expandLimited elbow movement (HP:0002996) help
..expandLimited hip movement (HP:0008800) help
..expandLimited interphalangeal movement (HP:0006064) help
..expandLimited shoulder movement (HP:0006467) help
..expandLimited wrist movement (HP:0006248) help
..expandRestricted chest movement (HP:0006596) help
..expandScapulohumeral synostosis (HP:0006595) 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:0005193HP:0005193Restricted large joint movement0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick typeHP:0040283 - Occasional284


Genes (1) :COL2A1

Diseases (1) :ORPHA:93346
 

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