Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the shoulder girdle musculature (HP:0001435)help
Parent Node:
expand
Abnormality of the calf musculature (HP:0001430)help
Parent Node:
expand
Amyotrophy involving the shoulder musculature (HP:0001465)help
..Starting node
..expand
Scapuloperoneal myopathy (HP:0009054)help
Term ID: 9054
Name: Scapuloperoneal myopathy
Synonym:
Definition:
Comments:
Reference: HP:0009054
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandScapular muscle atrophy (HP:0009060) 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:0009054HP:0009054Scapuloperoneal myopathy0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0009054HP:0009054Scapuloperoneal myopathy0MYH7 CL E G H46257577OMIM:181430Scapuloperoneal myopathy, myh7-related.1269


Genes (2) :FHL1 MYH7

Diseases (2) :OMIM:300695 OMIM:181430
 

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