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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:Abnormal morphology of the pelvis musculature
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Accession:HP:0001469 term browser browse the term
Synonyms:exact_synonym: Abnormality of the musculature of the pelvis
 xref: UMLS:C4025768



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Pelvic girdle muscle atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP ORPHA:206549 HPO NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G LMNA lamin A/C IAGP ORPHA:98856 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G SGCB sarcoglycan beta IAGP OMIM:604286 HPO NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP OMIM:254110 HPO NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
JBrowse link
G VCP valosin containing protein IAGP OMIM:167320 HPO NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14888
    Phenotypic abnormality 14885
      Abnormality of the musculoskeletal system 4154
        Abnormality of the musculature 2970
          Abnormal skeletal muscle morphology 1891
            Abnormal morphology of the pelvis musculature 5
              Abnormality of the gluteal musculature + 0
              Abnormality of the hip-girdle musculature + 5
              Aplasia/Hypoplasia of the musculature of the pelvis + 5
paths to the root