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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:Muscular dystrophy
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Accession:HP:0003560 term browser browse the term
Definition:The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Comment:Muscular dystrophy can be demonstrated by muscle biopsy.
Synonyms:narrow_synonym: Congenital muscular dystrophy
 related_synonym: MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES
 alt_id: HP:0003544;   HP:0003741;   HP:0003793;   HP:0003806;   HP:0007081
 xref: MESH:D009136;   SNOMEDCT_US:193225000;   SNOMEDCT_US:73297009;   UMLS:C0026850;   UMLS:C1864711


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the musculoskeletal system 0
        Abnormality of the musculature 0
          Abnormal skeletal muscle morphology 0
            Muscular dystrophy 0
              Limb-girdle muscular dystrophy 0
              Scapulohumeral muscular dystrophy 0
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