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 hip-girdle musculature (HP:0001445)help
Parent Node:
expand
Limb-girdle muscle weakness (HP:0003325)help
..Starting node
..expand
Pelvic girdle muscle weakness (HP:0003749)help
Term ID: 3749
Name: Pelvic girdle muscle weakness
Synonym: Hip girdle muscle weakness; Hip girdle weakness; Hip-girdle muscle weakness; Pelvic girdle weakness
Definition: Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.
Comments:
Reference: HP:0003749
Genes and Diseases:
 
       Child Nodes:
........expandHip flexor weakness (HP:0012515) help

 Sister Nodes: 
..expandShoulder girdle muscle weakness (HP:0003547) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003749HP:0003749Pelvic girdle muscle weakness0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003749HP:0003749Pelvic girdle muscle weakness0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003749HP:0003749Pelvic girdle muscle weakness0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003749HP:0003749Pelvic girdle muscle weakness0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003749HP:0003749Pelvic girdle muscle weakness0DPM3 CL E G H54344263494ORPHA1593007605951
HP:0003749HP:0003749Pelvic girdle muscle weakness0DPM3 CL E G H54344263494ORPHA1503007605951
HP:0003749HP:0003749Pelvic girdle muscle weakness0FKRP CL E G H7914734515ORPHA167117997606596
HP:0003749HP:0003749Pelvic girdle muscle weakness0FKRP CL E G H7914734515ORPHA157217997606596
HP:0003749HP:0003749Pelvic girdle muscle weakness0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003749HP:0003749Pelvic girdle muscle weakness0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003749HP:0003749Pelvic girdle muscle weakness0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM11585037607137
HP:0003749HP:0003749Pelvic girdle muscle weakness0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12045037607137
HP:0003749HP:0003749Pelvic girdle muscle weakness0PLEC CL E G H5339254361ORPHA138429069601282
HP:0003749HP:0003749Pelvic girdle muscle weakness0PLEC CL E G H5339254361ORPHA133559069601282
HP:0003749HP:0003749Pelvic girdle muscle weakness0PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0003749HP:0003749Pelvic girdle muscle weakness0PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0003749HP:0003749Pelvic girdle muscle weakness0RYR1 CL E G H6261597ORPHA1460410483180901
HP:0003749HP:0003749Pelvic girdle muscle weakness0RYR1 CL E G H6261597ORPHA1410110483180901
HP:0003749HP:0003749Pelvic girdle muscle weakness0SGCB CL E G H6443119ORPHA132710806600900
HP:0003749HP:0003749Pelvic girdle muscle weakness0SGCB CL E G H6443119ORPHA137410806600900
HP:0003749HP:0003749Pelvic girdle muscle weakness0TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM137217103610032
HP:0003749HP:0003749Pelvic girdle muscle weakness0TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM132317103610032
HP:0003749HP:0003749Pelvic girdle muscle weakness0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM141016380602290
HP:0003749HP:0003749Pelvic girdle muscle weakness0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM148216380602290
HP:0003749HP:0003749Pelvic girdle muscle weakness0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0003749HP:0003749Pelvic girdle muscle weakness0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0003749HP:0012515Hip flexor weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003749HP:0033416Hip adductor weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003749HP:0033416Hip adductor weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003749HP:0012515Hip flexor weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003749HP:0012515Hip flexor weakness1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003749HP:0033416Hip adductor weakness1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003749HP:0033416Hip adductor weakness1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003749HP:0012515Hip flexor weakness1DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003749HP:0012515Hip flexor weakness1DPM3 CL E G H54344263494ORPHA1593007605951
HP:0003749HP:0012515Hip flexor weakness1DPM3 CL E G H54344263494ORPHA1503007605951
HP:0003749HP:0033416Hip adductor weakness1DPM3 CL E G H54344263494ORPHA1593007605951
HP:0003749HP:0033416Hip adductor weakness1DPM3 CL E G H54344263494ORPHA1503007605951
HP:0003749HP:0033416Hip adductor weakness1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003749HP:0033416Hip adductor weakness1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003749HP:0012515Hip flexor weakness1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003749HP:0012515Hip flexor weakness1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003749HP:0033416Hip adductor weakness1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003749HP:0012515Hip flexor weakness1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003749HP:0012515Hip flexor weakness1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003749HP:0033416Hip adductor weakness1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003749HP:0033416Hip adductor weakness1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM11585037607137
HP:0003749HP:0012515Hip flexor weakness1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12045037607137
HP:0003749HP:0012515Hip flexor weakness1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM11585037607137
HP:0003749HP:0033416Hip adductor weakness1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12045037607137
HP:0003749HP:0033416Hip adductor weakness1PLEC CL E G H5339254361ORPHA138429069601282
HP:0003749HP:0033416Hip adductor weakness1PLEC CL E G H5339254361ORPHA133559069601282
HP:0003749HP:0012515Hip flexor weakness1PLEC CL E G H5339254361ORPHA138429069601282
HP:0003749HP:0012515Hip flexor weakness1PLEC CL E G H5339254361ORPHA133559069601282
HP:0003749HP:0012515Hip flexor weakness1PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0003749HP:0012515Hip flexor weakness1PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0003749HP:0033416Hip adductor weakness1PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0003749HP:0033416Hip adductor weakness1PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0003749HP:0012515Hip flexor weakness1RYR1 CL E G H6261597ORPHA1410110483180901
HP:0003749HP:0033416Hip adductor weakness1RYR1 CL E G H6261597ORPHA1460410483180901
HP:0003749HP:0033416Hip adductor weakness1RYR1 CL E G H6261597ORPHA1410110483180901
HP:0003749HP:0012515Hip flexor weakness1RYR1 CL E G H6261597ORPHA1460410483180901
HP:0003749HP:0033416Hip adductor weakness1SGCB CL E G H6443119ORPHA132710806600900
HP:0003749HP:0012515Hip flexor weakness1SGCB CL E G H6443119ORPHA137410806600900
HP:0003749HP:0012515Hip flexor weakness1SGCB CL E G H6443119ORPHA132710806600900
HP:0003749HP:0033416Hip adductor weakness1SGCB CL E G H6443119ORPHA137410806600900
HP:0003749HP:0012515Hip flexor weakness1TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM132317103610032
HP:0003749HP:0033416Hip adductor weakness1TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM137217103610032
HP:0003749HP:0033416Hip adductor weakness1TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM132317103610032
HP:0003749HP:0012515Hip flexor weakness1TNPO3 CL E G H23534608423Limb-girdle muscular dystrophy, type 1F608423C1842062OMIM137217103610032
HP:0003749HP:0033416Hip adductor weakness1TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM141016380602290
HP:0003749HP:0012515Hip flexor weakness1TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM148216380602290
HP:0003749HP:0012515Hip flexor weakness1TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM141016380602290
HP:0003749HP:0033416Hip adductor weakness1TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM148216380602290
HP:0003749HP:0012515Hip flexor weakness1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0003749HP:0033416Hip adductor weakness1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0003749HP:0033416Hip adductor weakness1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0003749HP:0012515Hip flexor weakness1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003749HP:0003749Pelvic girdle muscle weakness0DGUOK CL E G H1716329314ORPHA01562858601465
HP:0003749HP:0003749Pelvic girdle muscle weakness0DGUOK CL E G H1716329314ORPHA01402858601465
HP:0003749HP:0003749Pelvic girdle muscle weakness0MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0003749HP:0003749Pelvic girdle muscle weakness0SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM072429090614982
HP:0003749HP:0003749Pelvic girdle muscle weakness0SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM085929090614982
HP:0003749HP:0033416Hip adductor weakness1DGUOK CL E G H1716329314ORPHA01562858601465
HP:0003749HP:0033416Hip adductor weakness1DGUOK CL E G H1716329314ORPHA01402858601465
HP:0003749HP:0012515Hip flexor weakness1DGUOK CL E G H1716329314ORPHA01562858601465
HP:0003749HP:0012515Hip flexor weakness1DGUOK CL E G H1716329314ORPHA01402858601465
HP:0003749HP:0033416Hip adductor weakness1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0003749HP:0012515Hip flexor weakness1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0003749HP:0033416Hip adductor weakness1SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM072429090614982
HP:0003749HP:0012515Hip flexor weakness1SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM085929090614982
HP:0003749HP:0012515Hip flexor weakness1SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM072429090614982
HP:0003749HP:0033416Hip adductor weakness1SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM085929090614982


Genes (29) :AGRN AK9 ANO5 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DGUOK DNAJB6 DOK7 DPM3 FKRP GNE HNRNPDL LRP4 MUSK MYOT PLEC PNPLA2 RAPSN RYR1 SCN4A SGCB SMCHD1 TNPO3 TRIM32 TRNE VCP

Diseases (19) :611307 329314 603511 263494 34515 607155 609115 254361 98908 597 119 158901 608423 254110 2596 167320 98913 602 266
 

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