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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:Craniofacial dysostosis
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Accession:HP:0004439 term browser browse the term
Definition:A characteristic appearance resulting from defective ossification of craniofacial bones.
Comment:Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future.
Synonyms:exact_synonym: Crouzon syndrome
 xref: SNOMEDCT_US:28861008;   UMLS:C0010273


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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 head or neck 0
        Abnormality of the head 0
          Abnormality of the face 0
            Craniofacial dysostosis 0
              Congenital craniofacial dysostosis 0
              Mandibulofacial dysostosis 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 axial skeleton morphology 0
              Abnormal skull morphology 0
                Craniofacial dysostosis 0
                  Congenital craniofacial dysostosis 0
                  Mandibulofacial dysostosis 0
paths to the root