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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 7
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Accession:DOID:0080612 term browser browse the term
Definition:An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. (DO)
Synonyms:exact_synonym: ASGD7;   COPOA;   sclerocornea with other ocular anomalies
 primary_id: OMIM:269400
For additional species annotation, visit the Alliance of Genome Resources.


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anterior segment dysgenesis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES
ClinVar Annotator: match by term: Anterior segment dysgenesis 7
OMIM
ClinVar
PMID:21474777 PMID:21907015 PMID:24939590 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr 6:48,866,496...48,982,368
Ensembl chr 6:48,866,601...48,980,340
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    sensory system disease 5168
      eye disease 2582
        Eye Abnormalities 352
          anterior segment dysgenesis 27
            anterior segment dysgenesis 7 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          eye disease 2582
            corneal disease 194
              sclerocornea 28
                anterior segment dysgenesis 27
                  anterior segment dysgenesis 7 1
paths to the root