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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:Pseudoglioma
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Accession:HP:6000262 term browser browse the term
Definition:A circumscribed whitish-yellow mass in the posterior chamber associated with retinal folds and sometimes retinal detachment and is said to resemble a retinal glioma.


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Pseudoglioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD4 frizzled class receptor 4 IAGP ClinVar Annotator: match by term: Pseudoglioma ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP ClinVar Annotator: match by term: Pseudoglioma ClinVar PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NDP-AS1 NDP antisense RNA 1 IAGP ClinVar Annotator: match by term: Pseudoglioma ClinVar PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chr  X:43,949,732...43,971,552
Ensembl chr  X:43,949,732...43,971,582 		JBrowse link
G PRSS23 serine protease 23 IAGP ClinVar Annotator: match by term: Pseudoglioma ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr11:86,791,071...86,952,910
Ensembl chr11:86,791,059...86,952,910 		JBrowse link
G TSPAN12 tetraspanin 12 IAGP ClinVar Annotator: match by term: Pseudoglioma ClinVar PMID:25250762 NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the eye 3538
        Abnormal eye morphology 2878
          Abnormal posterior eye segment morphology 1661
            Abnormal vitreous humor morphology 63
              Pseudoglioma 5
paths to the root