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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:anterior segment dysgenesis 8
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Accession:DOID:0080613 term browser browse the term
Definition:An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: ASGD8
 primary_id: OMIM:617319


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anterior segment dysgenesis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 interacting corepressor ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar PMID:25741868 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
G Gm7298 predicted gene 7298 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27839872 PMID:28492532 PMID:29556725 More... NCBI chr 6:121,711,454...121,761,598
Ensembl chr 6:121,709,891...121,766,043 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      eye disease 3460
        Eye Abnormalities 787
          anterior segment dysgenesis 36
            anterior segment dysgenesis 8 2
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              corneal disease 242
                sclerocornea 39
                  anterior segment dysgenesis 36
                    anterior segment dysgenesis 8 2
paths to the root