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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
For additional species annotation, visit the Alliance of Genome Resources.



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anterior segment dysgenesis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpamd8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 OMIM
ClinVar
PMID:25741868 PMID:27839872 PMID:32499604 NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    sensory system disease 6393
      eye disease 2932
        Eye Abnormalities 461
          anterior segment dysgenesis 28
            anterior segment dysgenesis 8 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        sensory system disease 6393
          eye disease 2932
            corneal disease 209
              sclerocornea 31
                anterior segment dysgenesis 28
                  anterior segment dysgenesis 8 1
paths to the root