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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:Metaphyseal chondrodysplasia
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Accession:HP:0005871 term browser browse the term
Definition:An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
Comment:The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred.
Synonyms:alt_id: HP:0006377
 xref: SNOMEDCT_US:28681006;   UMLS:C0265290


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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of limbs 0
        Abnormality of limb bone 0
          Abnormality of limb bone morphology 0
            Abnormal metaphysis morphology 0
              Metaphyseal dysplasia 0
                Metaphyseal chondrodysplasia 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
              Abnormal long bone morphology 0
                Abnormal metaphysis morphology 0
                  Metaphyseal dysplasia 0
                    Metaphyseal chondrodysplasia 0
paths to the root