Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature of the limbs (HP:0009127)help
Grandparent Node:
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Skeletal muscle atrophy (HP:0003202)help
Parent Node:
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Limb-girdle muscle atrophy (HP:0003797)help
..Starting node
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Pelvic girdle amyotrophy (HP:0008946)help
Term ID: 8946
Name: Pelvic girdle amyotrophy
Synonym: Hip girdle amyotrophy
Definition: Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.
Comments:
Reference: HP:0008946
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLimb-girdle muscular dystrophy (HP:0006785) help
..expandShoulder girdle muscle atrophy (HP:0003724) 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:0008946HP:0008946Pelvic girdle amyotrophy0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0008946HP:0008946Pelvic girdle amyotrophy0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0008946HP:0008946Pelvic girdle amyotrophy0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0008946HP:0008946Pelvic girdle amyotrophy0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0008946HP:0008946Pelvic girdle amyotrophy0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63


Genes (5) :CAPN3 GYG1 SMN1 SMN2 VCP

Diseases (4) :ORPHA:267 OMIM:616199 OMIM:253400 OMIM:167320
 

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