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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 3
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Accession:DOID:0080608 term browser browse the term
Definition:An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)
Synonyms:exact_synonym: ASGD3;   IGDA;   IRID 1;   IRID1;   glaucoma iridogoniodysplasia, familial;   iridogoniodysgenesis anomaly, autosomal dominant;   iridogoniodysgenesis type 1;   iridogoniodysgenesis type1
 related_synonym: iris hypoplasia and glaucoma
 primary_id: MESH:C535535;   MESH:C566650
 alt_id: OMIM:601631


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anterior segment dysgenesis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial		 OMIM
CTD
ClinVar		 PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      iridogoniodysgenesis syndrome 2
        anterior segment dysgenesis 3 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              uveal disease 244
                iris disease 54
                  iridogoniodysgenesis syndrome 2
                    anterior segment dysgenesis 3 1
paths to the root