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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Shoulder girdle muscle atrophy (HP:0003724)help
Term ID: 3724
Name: Shoulder girdle muscle atrophy
Synonym: Shoulder girdle atrophy; Shoulder girdle muscle wasting; Shoulder-girdle muscle atrophy
Definition: Amyotrophy affecting the muscles of the shoulder girdle.
Comments:
Reference: HP:0003724
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLimb-girdle muscular dystrophy (HP:0006785) help
..expandPelvic girdle amyotrophy (HP:0008946) 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:0003724HP:0003724Shoulder girdle muscle atrophy0ACTB CL E G H60132ORPHA:64755Becker nevus syndromeHP:0040281 - Very frequent72
HP:0003724HP:0003724Shoulder girdle muscle atrophy0DES CL E G H16742770OMIM:181400Scapuloperoneal syndrome, neurogenic, Kaeser type.263
HP:0003724HP:0003724Shoulder girdle muscle atrophy0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0003724HP:0003724Shoulder girdle muscle atrophy0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0003724HP:0003724Shoulder girdle muscle atrophy0GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040283 - Occasional173
HP:0003724HP:0003724Shoulder girdle muscle atrophy0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003724HP:0003724Shoulder girdle muscle atrophy0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040282 - Frequent1269
HP:0003724HP:0003724Shoulder girdle muscle atrophy0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0003724HP:0003724Shoulder girdle muscle atrophy0SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E.113
HP:0003724HP:0003724Shoulder girdle muscle atrophy0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0003724HP:0003724Shoulder girdle muscle atrophy0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0003724HP:0003724Shoulder girdle muscle atrophy0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0003724HP:0003724Shoulder girdle muscle atrophy0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0003724HP:0003724Shoulder girdle muscle atrophy0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0003724HP:0003724Shoulder girdle muscle atrophy0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0003724HP:0003724Shoulder girdle muscle atrophy0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63


Genes (15) :ACTB DES FKRP FRG1 GNE LMNA MYH7 SGCB SMN1 SMN2 TPM3 TRIM32 TRPV4 UNC45B VCP

Diseases (15) :ORPHA:64755 OMIM:181400 OMIM:606612 OMIM:158900 ORPHA:602 ORPHA:98856 ORPHA:437572 OMIM:608358 OMIM:604286 OMIM:253400 OMIM:609284 OMIM:254110 OMIM:606071 OMIM:619178 OMIM:167320
 

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