Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the musculature of the limbs (HP:0009127)help
Grandparent Node:
expand
Muscle weakness (HP:0001324)help
Parent Node:
expand
Abnormality of the shoulder girdle musculature (HP:0001435)help
Parent Node:
expand
Limb-girdle muscle weakness (HP:0003325)help
..Starting node
..expand
Shoulder girdle muscle weakness (HP:0003547)help
Term ID: 3547
Name: Shoulder girdle muscle weakness
Synonym: Muscle weakness, shoulder-girdle; Shoulder girdle weakness; Shoulder weakness; Weak shoulder muscles
Definition: The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.
Comments:
Reference: HP:0003547
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPelvic girdle muscle weakness (HP:0003749) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003547HP:0003547Shoulder girdle muscle weakness0ABHD5 CL E G H5109998907ORPHA119421396604780
HP:0003547HP:0003547Shoulder girdle muscle weakness0AGRN CL E G H37579098913ORPHA11782329103320
HP:0003547HP:0003547Shoulder girdle muscle weakness0AK9 CL E G H22126498913ORPHA14833814615358
HP:0003547HP:0003547Shoulder girdle muscle weakness0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0003547HP:0003547Shoulder girdle muscle weakness0CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0003547HP:0003547Shoulder girdle muscle weakness0CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0003547HP:0003547Shoulder girdle muscle weakness0CHRND CL E G H114498913ORPHA14081965100720
HP:0003547HP:0003547Shoulder girdle muscle weakness0CHRNE CL E G H114598913ORPHA17951966100725
HP:0003547HP:0003547Shoulder girdle muscle weakness0COL13A1 CL E G H130598913ORPHA13972190120350
HP:0003547HP:0003547Shoulder girdle muscle weakness0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM141114888611332
HP:0003547HP:0003547Shoulder girdle muscle weakness0DOK7 CL E G H28548998913ORPHA184026594610285
HP:0003547HP:0003547Shoulder girdle muscle weakness0FKRP CL E G H7914734515ORPHA178717997606596
HP:0003547HP:0003547Shoulder girdle muscle weakness0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0003547HP:0003547Shoulder girdle muscle weakness0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0003547HP:0003547Shoulder girdle muscle weakness0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11263954601278
HP:0003547HP:0003547Shoulder girdle muscle weakness0GNE CL E G H10020602GNE myopathyCN924915ORPHA178323657603824
HP:0003547HP:0003547Shoulder girdle muscle weakness0GYG1 CL E G H2992263297ORPHA11954699603942
HP:0003547HP:0003547Shoulder girdle muscle weakness0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12485037607137
HP:0003547HP:0003547Shoulder girdle muscle weakness0LRP4 CL E G H403898913ORPHA17906696604270
HP:0003547HP:0003547Shoulder girdle muscle weakness0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM13336912164015
HP:0003547HP:0003547Shoulder girdle muscle weakness0MT-TE CL E G H45562596HantavirosisORPHA17479590025
HP:0003547HP:0003547Shoulder girdle muscle weakness0MUSK CL E G H459398913ORPHA14967525601296
HP:0003547HP:0003547Shoulder girdle muscle weakness0MYH7 CL E G H4625437572ORPHA136127577160760
HP:0003547HP:0003547Shoulder girdle muscle weakness0MYOT CL E G H9499266ORPHA129512399604103
HP:0003547HP:0003547Shoulder girdle muscle weakness0PNPLA2 CL E G H5710498908ORPHA144330802609059
HP:0003547HP:0003547Shoulder girdle muscle weakness0POLG CL E G H5428254892ORPHA119179179174763
HP:0003547HP:0003547Shoulder girdle muscle weakness0POLG2 CL E G H11232254892ORPHA12409180604983
HP:0003547HP:0003547Shoulder girdle muscle weakness0RAPSN CL E G H591398913ORPHA14339863601592
HP:0003547HP:0003547Shoulder girdle muscle weakness0RRM2B CL E G H50484254892ORPHA129317296604712
HP:0003547HP:0003547Shoulder girdle muscle weakness0SCN4A CL E G H632998913ORPHA1139110591603967
HP:0003547HP:0003547Shoulder girdle muscle weakness0SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0003547HP:0003547Shoulder girdle muscle weakness0TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM143717103610032
HP:0003547HP:0003547Shoulder girdle muscle weakness0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM151616380602290
HP:0003547HP:0003547Shoulder girdle muscle weakness0TWNK CL E G H56652254892ORPHA13081160606075
HP:0003547HP:0003547Shoulder girdle muscle weakness0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM147312666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003547HP:0003547Shoulder girdle muscle weakness0BICD2 CL E G H23299363454ORPHA059017208609797
HP:0003547HP:0003547Shoulder girdle muscle weakness0MATR3 CL E G H9782600ORPHA03336912164015
HP:0003547HP:0003547Shoulder girdle muscle weakness0RYR1 CL E G H626198905ORPHA0506210483180901


Genes (36) :ABHD5 AGRN AK9 ANO5 BICD2 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DNAJB6 DOK7 FKRP FRG1 GNE GYG1 HNRNPDL LRP4 MATR3 MT-TE MUSK MYH7 MYOT PNPLA2 POLG POLG2 RAPSN RRM2B RYR1 SCN4A SLC25A4 TNPO3 TRIM32 TRNE TWNK VCP

Diseases (23) :98907 98913 611307 363454 603511 34515 606612 607155 158900 602 263297 609115 600 606070 437572 266 98908 254892 98905 608423 254110 2596 167320
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.