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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:Skeletal dysplasia
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Accession:HP:0002652 term browser browse the term
Definition:A general term describing features characterized by abnormal development of bones and connective tissues.
Comment:The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities.
Synonyms:broad_synonym: Abnormal skeletal development
 alt_id: HP:0005685
 xref: SNOMEDCT_US:105985007;   SNOMEDCT_US:240190009;   UMLS:C0029422;   UMLS:C4280567


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the musculoskeletal system 0
        Abnormality of the skeletal system 0
          Abnormal skeletal morphology 0
            Skeletal dysplasia 0
              Diaphyseal dysplasia 0
              Epiphyseal dysplasia 0
              Lethal skeletal dysplasia 0
              Metaphyseal dysplasia + 0
              Multiple epiphyseal dysplasia 0
              Multiple skeletal anomalies 0
              Spondyloepimetaphyseal dysplasia 0
              Spondyloepiphyseal dysplasia 0
              Spondylometaphyseal dysplasia 0
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