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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:Megalencephaly
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Accession:HP:0001355 term browser browse the term
Definition:Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
Comment:Megalencephaly is defined as fronto-occipital diameter above two standard deviations of the mean for the patient's age because of an oversized brain parenchyma. This is different from macrocephaly, which is defined by an enlarged head circumference and therefore accounts also for the size of the extra-axial spaces.
Synonyms:exact_synonym: Macrencephaly
 broad_synonym: Enlarged brain
 xref: SNOMEDCT_US:19410003;   UMLS:C0221355


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the nervous system 0
        Abnormal nervous system morphology 0
          Morphological central nervous system abnormality 0
            Abnormal brain morphology 0
              Abnormal forebrain morphology 0
                Abnormal cerebral morphology 0
                  Megalencephaly 0
                    Dysplastic megalencephaly 0
                    Hemimegalencephaly 0
                    Temporal lobe megalencephaly 0
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