Human Phenotype Ontology 
..Starting node
..expandLeg dystonia (HP:0031959)help
Term ID: 31959
Name: Leg dystonia
Synonym:
Definition: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.
Comments:
Reference: HP:0031959
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:0031959HP:0031959Leg dystonia0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0031959HP:0031959Leg dystonia0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0031959HP:0031959Leg dystonia0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0031959HP:0031959Leg dystonia0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0031959HP:0031959Leg dystonia0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0031959HP:0031959Leg dystonia0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0031959HP:0031959Leg dystonia0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30


Genes (7) :ACTB AOPEP FTL GFM2 KMT2B PARK7 VPS16

Diseases (7) :OMIM:607371 OMIM:619565 ORPHA:157846 ORPHA:565624 ORPHA:589618 OMIM:606324 OMIM:619291
 

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