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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities
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Accession:DOID:9005728 term browser browse the term
Synonyms:primary_id: RDO:9000345



show annotations for term's descendants           Sort by:
Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities ClinVar PMID:15286169 PMID:16565358 NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042
JBrowse link
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities
DNA:deletion:exon:c.650delG(human)
ClinVar
RGD
PMID:15286169 PMID:16565358 PMID:16565358 RGD:11535073 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    sensory system disease 6930
      eye disease 3462
        lens disease 454
          cataract 444
            cataract 11 multiple types 2
              Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 2
Path 2
Term Annotations click to browse term
  disease 21120
    Pathological Conditions, Signs and Symptoms 13299
      Signs and Symptoms 10784
        Neurologic Manifestations 10017
          sensory system disease 6930
            eye disease 3462
              lens disease 454
                cataract 444
                  cataract 11 multiple types 2
                    Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 2
paths to the root