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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:Hypoplasia of the musculature
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Accession:HP:0009004 term browser browse the term
Definition:Underdevelopment of the musculature.
Synonyms:exact_synonym: Muscle hypoplasia;   Poorly developed skeletal musculature;   Underdeveloped muscle;   Underdeveloped muscles
 alt_id: HP:0009034
 xref: SNOMEDCT_US:205530002;   UMLS:C0240414



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Hypoplasia of the musculature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP ORPHA:2020 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP ORPHA:79328 HPO NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP OMIM:278250 HPO NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
JBrowse link
G COLEC11 collectin subfamily member 11 IAGP OMIM:265050 HPO NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
JBrowse link
G GLE1 GLE1 RNA export mediator IAGP OMIM:253310 HPO NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ORPHA:2020 HPO NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
JBrowse link
G HBB hemoglobin subunit beta IAGP ORPHA:231214 HPO NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP ORPHA:2020 HPO NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP ORPHA:2020 HPO NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
JBrowse link
G MYL2 myosin light chain 2 IAGP ORPHA:2020 HPO NCBI chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443
JBrowse link
G SELENON selenoprotein N IAGP ORPHA:2020 HPO NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G TPM2 tropomyosin 2 IAGP ORPHA:2020 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TPM3 tropomyosin 3 IAGP ORPHA:2020 HPO NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,304...154,194,648
JBrowse link
Calf muscle hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 IAGP ORPHA:488650 HPO NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G FBN2 fibrillin 2 IAGP OMIM:121050 HPO NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G PMP22 peripheral myelin protein 22 IAGP ORPHA:90658 HPO NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
JBrowse link
Hypoplasia of deltoid muscle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 IAGP OMIM:147750 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
Pectoralis hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor IAGP OMIM:254940 HPO NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP OMIM:607323 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
Shoulder muscle hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP ORPHA:1826 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
Upper limb muscle hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 IAGP OMIM:607323 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14828
    Phenotypic abnormality 14825
      Abnormality of the musculoskeletal system 4083
        Abnormality of the musculature 2919
          Abnormal skeletal muscle morphology 1850
            Abnormality of muscle size 683
              Aplasia/Hypoplasia involving the skeletal musculature 47
                Hypoplasia of the musculature 21
                  Calf muscle hypoplasia 3
                  Neck muscle hypoplasia 0
                  Pectoralis hypoplasia 2
                  Shoulder muscle hypoplasia + 4
                  Upper limb muscle hypoplasia + 1
paths to the root