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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 Mug2 murinoglobulin 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar
OMIM
PMID:27839872, PMID:32499604 NCBI chr 4:154,215,262...154,282,608
Ensembl chr 4:154,215,250...154,282,608
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Eye Abnormalities 363
          anterior segment dysgenesis 29
            anterior segment dysgenesis 8 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            corneal disease 184
              sclerocornea 30
                anterior segment dysgenesis 29
                  anterior segment dysgenesis 8 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.