Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
Parent Node:
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Limb-girdle muscle atrophy (HP:0003797)help
Parent Node:
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Muscular dystrophy (HP:0003560)help
..Starting node
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Limb-girdle muscular dystrophy (HP:0006785)help
Term ID: 6785
Name: Limb-girdle muscular dystrophy
Synonym: limb girdle muscular dystrophy
Definition: Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).
Comments:
Reference: HP:0006785
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital muscular dystrophy (HP:0003741) help
..expandLate-onset muscular dystrophy (HP:0007081) help
..expandScapulohumeral muscular dystrophy (HP:0008970) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006785HP:0006785Limb-girdle muscular dystrophy0ACTA1 CL E G H5897240ORPHA1325129102610
HP:0006785HP:0006785Limb-girdle muscular dystrophy0ACTA1 CL E G H5897240ORPHA1362129102610
HP:0006785HP:0006785Limb-girdle muscular dystrophy0ANO5 CL E G H203859206549ORPHA178627337608662
HP:0006785HP:0006785Limb-girdle muscular dystrophy0ANO5 CL E G H203859206549ORPHA190027337608662
HP:0006785HP:0006785Limb-girdle muscular dystrophy0EMD CL E G H201098863ORPHA15303331300384
HP:0006785HP:0006785Limb-girdle muscular dystrophy0EMD CL E G H201098863ORPHA15793331300384
HP:0006785HP:0006785Limb-girdle muscular dystrophy0FHL1 CL E G H227398863ORPHA14863702300163
HP:0006785HP:0006785Limb-girdle muscular dystrophy0FHL1 CL E G H227398863ORPHA14373702300163
HP:0006785HP:0006785Limb-girdle muscular dystrophy0HNRNPA1 CL E G H3178615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3615424C3809469OMIM1595031164017
HP:0006785HP:0006785Limb-girdle muscular dystrophy0HNRNPA1 CL E G H3178615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3615424C3809469OMIM1605031164017
HP:0006785HP:0006785Limb-girdle muscular dystrophy0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM11585037607137
HP:0006785HP:0006785Limb-girdle muscular dystrophy0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12045037607137
HP:0006785HP:0006785Limb-girdle muscular dystrophy0ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM154937276614631
HP:0006785HP:0006785Limb-girdle muscular dystrophy0ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM154537276614631
HP:0006785HP:0006785Limb-girdle muscular dystrophy0LMNA CL E G H400098853ORPHA114866636150330
HP:0006785HP:0006785Limb-girdle muscular dystrophy0LMNA CL E G H400098855ORPHA114866636150330
HP:0006785HP:0006785Limb-girdle muscular dystrophy0LMNA CL E G H400098853ORPHA113476636150330
HP:0006785HP:0006785Limb-girdle muscular dystrophy0LMNA CL E G H400098855ORPHA113476636150330
HP:0006785HP:0006785Limb-girdle muscular dystrophy0LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM113476636150330
HP:0006785HP:0006785Limb-girdle muscular dystrophy0LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM114866636150330
HP:0006785HP:0006785Limb-girdle muscular dystrophy0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM147410805600119
HP:0006785HP:0006785Limb-girdle muscular dystrophy0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM142210805600119
HP:0006785HP:0006785Limb-girdle muscular dystrophy0SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0006785HP:0006785Limb-girdle muscular dystrophy0SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0006785HP:0006785Limb-girdle muscular dystrophy0SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0006785HP:0006785Limb-girdle muscular dystrophy0SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0006785HP:0006785Limb-girdle muscular dystrophy0TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0006785HP:0006785Limb-girdle muscular dystrophy0TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0006785HP:0006785Limb-girdle muscular dystrophy0TRAPPC11 CL E G H60684369847ORPHA157325751614138
HP:0006785HP:0006785Limb-girdle muscular dystrophy0TRAPPC11 CL E G H60684369840ORPHA167325751614138
HP:0006785HP:0006785Limb-girdle muscular dystrophy0TRAPPC11 CL E G H60684369840ORPHA157325751614138
HP:0006785HP:0006785Limb-girdle muscular dystrophy0TRAPPC11 CL E G H60684369847ORPHA167325751614138
HP:0006785HP:0006785Limb-girdle muscular dystrophy0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0006785HP:0006785Limb-girdle muscular dystrophy0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (14) :ACTA1 ANO5 CRPPA EMD FHL1 HNRNPA1 HNRNPDL ISPD LMNA SGCA SYNE1 SYNE2 TMEM43 TRAPPC11

Diseases (13) :97240 206549 616052 98863 615424 609115 98855 98853 181350 608099 369840 369847 615356
 

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