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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:Avascular necrosis of the capital femoral epiphysis
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Accession:HP:0005743 term browser browse the term
Definition:Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.
Comment:In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh.
Synonyms:exact_synonym: Osteochondrosis of the femoral head;   Osteonecrosis of the femoral head;   Perthes-like femoral head changes
 related_synonym: Coxa plana;   Legg-Calve-Perthes syndrome;   Legg-Perthes disease;   Morbus Legg-Calve-Perthes
 alt_id: HP:0003280;   HP:0006448;   HP:0010887
 xref: ICD-10:M91.1;   MESH:D007873;   SNOMEDCT_US:111255008;   SNOMEDCT_US:240241003;   UMLS:C0023234


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Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of limbs 0
        Abnormality of the lower limb 0
          Abnormality of lower limb epiphysis morphology 0
            Abnormality of femoral epiphysis 0
              Abnormality of the epiphysis of the femoral head 0
                Avascular necrosis of the capital femoral epiphysis 0
Path 2
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the musculoskeletal system 0
        Abnormality of the skeletal system 0
          Abnormal skeletal morphology 0
            Abnormal appendicular skeleton morphology 0
              Abnormality of limb bone morphology 0
                Abnormal lower limb bone morphology 0
                  Abnormality of femur morphology 0
                    Abnormal femoral neck/head morphology 0
                      Abnormal femoral head morphology 0
                        Abnormality of the epiphysis of the femoral head 0
                          Avascular necrosis of the capital femoral epiphysis 0
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