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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:Sphenoid wing dysplasia
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Accession:HP:6001124 term browser browse the term
Definition:Hypoplasia or aplasia of the greater or lesser wing of the sphenoid bone, typically resulting in widening of the superior orbital fissure, elevation of the [lesser sphenoid wing, and ipsilateral orbital enlargement.
Comment:All reported cases of congenital sphenoid wing dysplasia have been attributed to neurofibromatosis type 1 (NF1). Sphenoid bone dysplasia occurs in 3-11 percent of the subjects with neurofibromatosis type 1 NF1 patients. This malformation, a distinctive diagnostic feature for NF1, is characterized by progressive proptosis and facial disfiguration secondary to herniation of meningeal and cerebral structures. Unilateral in most of the cases, sphenoid bone dysplasia associated with plexiform neurofibroma in the territory of the trigeminal nerve in several cases and pooling of cerebrospinal fluid (CSF) in all cases often described in the past as an arachnoid cyst.


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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
          Abnormal skull morphology 0
            Abnormal facial skeleton morphology 0
              Sphenoid wing dysplasia 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
                Abnormal facial skeleton morphology 0
                  Sphenoid wing dysplasia 0
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