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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:Cerebral subcortical cyst
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Accession:HP:6000461 term browser browse the term
Definition:A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF).
Comment:Megalencephalic leukoencephalopathy with subcortical cysts is characterized by subcortical cysts that are present in the anterior temporal region most commonly and often in the frontoparietal region. Later, MRI may only reveal cerebral atrophy. The size and number of the cysts may increase over time. See Figure 1 of PMID:21977097.



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Cerebral subcortical cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 IAGP HPO MIM:620448 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G GPRC5B G protein-coupled receptor class C group 5 member B IAGP HPO MIM:620447 NCBI chr16:19,856,691...19,885,634
Ensembl chr16:19,856,691...19,886,167
JBrowse link

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  Human phenotype 87531
    Phenotypic abnormality 87110
      Abnormality of the nervous system 29594
        Abnormal nervous system morphology 5495
          Morphological central nervous system abnormality 5379
            Abnormal brain morphology 3895
              Abnormal forebrain morphology 2608
                Abnormal cerebral morphology 2499
                  Abnormal cerebral subcortex morphology 1258
                    Cerebral subcortical cyst 2
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