Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the shoulder girdle musculature (HP:0001435)help
Parent Node:
expandAmyotrophy involving the shoulder musculature (HP:0001465)help
..Starting node
..expandScapular muscle atrophy (HP:0009060)help
Term ID: 9060
Name: Scapular muscle atrophy
Synonym:
Definition: Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.
Comments:
Reference: HP:0009060
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandScapuloperoneal myopathy (HP:0009054) 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:0009060HP:0009060Scapular muscle atrophy0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0009060HP:0009060Scapular muscle atrophy0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214


Genes (2) :CAPN3 TRPV4

Diseases (2) :ORPHA:267 OMIM:181405
 

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