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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:Cephalocele
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Accession:HP:0011815 term browser browse the term
Definition:A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.
Comment:A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720).
Synonyms:xref: SNOMEDCT_US:253101008;   SNOMEDCT_US:48777005;   SNOMEDCT_US:55999004;   UMLS:C0014065

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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
          Abnormal skull morphology 0
            Cephalocele 0
              Atretic occipital cephalocele 0
              Encephalocele + 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
                Cephalocele 0
                  Atretic occipital cephalocele 0
                  Encephalocele + 0
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