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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
 broad_synonym: CPAMD8-related condition
 xref: MIM:617319;   MONDO:0015017


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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 co-repressor ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar PMID:25741868 NCBI chr  X:13,282,431...13,402,254
Ensembl chr  X:13,360,376...13,402,254 		JBrowse link
G Mug6 murinoglobulin 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 | ClinVar Annotator: match by term: CPAMD8-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27839872 PMID:28492532 PMID:29556725 More... NCBI chr 4:157,004,905...157,085,187
Ensembl chr 4:157,004,905...157,085,250 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        Eye Abnormalities 608
          anterior segment dysgenesis 36
            anterior segment dysgenesis 8 2
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              corneal disease 238
                sclerocornea 39
                  anterior segment dysgenesis 36
                    anterior segment dysgenesis 8 2
paths to the root