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


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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 ClinVar Annotator: match by OMIM:601631
ClinVar Annotator: match by term: Anterior segment dysgenesis 3
ClinVar Annotator: match by term: Iridogoniodysgenesis type1
OMIM
ClinVar
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:19668217 PMID:19793056 PMID:25741868 PMID:28492532 PMID:32832252 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      iridogoniodysgenesis syndrome 2
        anterior segment dysgenesis 3 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                iridogoniodysgenesis syndrome 2
                  anterior segment dysgenesis 3 1
paths to the root