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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Limb-girdle muscular dystrophy
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Accession:HP:0006785 term browser browse the term
Definition:Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).
Synonyms:alt_id: HP:0009066
 xref: MESH:D049288;   SNOMEDCT_US:93153005;   UMLS:C0686353



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Limb-girdle muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:97240 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ANO5 anoctamin 5 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar
HPO
PMID:23606453 PMID:24022920 PMID:25741868 PMID:26467025 PMID:28492532 More... ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G ASTN2 astrotactin 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 PMID:28492532 PMID:30823891 PMID:35055178 NCBI chr 9:116,423,112...117,415,057
Ensembl chr 9:116,423,112...117,415,070
JBrowse link
G ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
JBrowse link
G BVES blood vessel epicardial substance IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 PMID:31119192 NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157
JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:11371436 PMID:15221789 PMID:16141003 PMID:18854869 PMID:19226146 More... NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:9536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO OMIM:616052 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G DAG1 dystroglycan 1 IAGP HPO ORPHA:280333 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP HPO OMIM:612937 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595
JBrowse link
G EMD emerin IAGP HPO ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 More... NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:25741868 PMID:36745799 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO OMIM:615424 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO OMIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462
JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:181350 ORPHA:98853 ORPHA:98855 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628
JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO OMIM:617232 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:206559 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G SGCA sarcoglycan alpha IAGP HPO OMIM:608099 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar
HPO
PMID:23830518 PMID:24033266 PMID:26322222 PMID:27707803 PMID:28492532 More... OMIM:615356 ORPHA:369840 ORPHA:369847 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:24033266 PMID:28492532 PMID:30823891 PMID:35055178 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy ClinVar PMID:18948003 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21529
    Phenotypic abnormality 21519
      Abnormality of limbs 2577
        Abnormality of the musculature of the limbs 649
          Limb-girdle muscle atrophy 47
            Limb-girdle muscular dystrophy 30
Path 2
Term Annotations click to browse term
  Human phenotype 21529
    Phenotypic abnormality 21519
      Abnormality of the musculoskeletal system 4402
        Abnormality of the musculature 3191
          Abnormal skeletal muscle morphology 2002
            Abnormality of muscle size 736
              Skeletal muscle atrophy 574
                Limb-girdle muscle atrophy 47
                  Limb-girdle muscular dystrophy 30
paths to the root