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The Human Phenotype Ontology (HPO) is downloaded weekly from The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at

Term:Abnormality of the diaphragm
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Accession:HP:0000775 term browser browse the term
Definition:Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.
Synonyms:exact_synonym: Diaphragm issues;   Diaphragmatic defect
 alt_id: HP:0005204
 xref: UMLS:C1848873

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Path 1
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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
            Abnormality of the diaphragm 0
              Abnormal hemidiaphragm morphology + 0
              Aplasia/Hypoplasia of the diaphragm + 0
              Congenital diaphragmatic hernia + 0
              Denervation of the diaphragm 0
              Diaphragmatic eventration 0
paths to the root