Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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 term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial OMIM
ClinVar		 PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr 6:1,429,051...1,433,180 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      iridogoniodysgenesis syndrome 2
        anterior segment dysgenesis 3 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              uveal disease 224
                iris disease 52
                  iridogoniodysgenesis syndrome 2
                    anterior segment dysgenesis 3 1
paths to the root