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 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
Advanced Search (OLGA)

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:renal coloboma syndrome
go back to main search page
Accession:DOID:0090006 term browser browse the term
Definition:A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: CAKUT with or without ocular abnormalities;   CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES;   Coloboma-Ureteral-Renal Syndrome;   Optic Nerve Coloboma Renal Syndrome;   Optic coloboma, vesicoureteral reflux, and renal anomalies;   Optic nerve coloboma with renal disease;   PAPRS;   Papillorenal syndrome;   coloboma of optic nerve with renal disease;   isolated renal hypoplasia;   papillo-renal syndrome, optic nerve coloboma with renal disease;   renal-coloboma syndrome with macular abnormalities
 narrow_synonym: Papillorenal syndrome with macular abnormalities
 broad_synonym: PAX2-RELATED CONDITION
 primary_id: MESH:C537168
 alt_id: MIM:120330
 xref: GARD:4106;   ORDO:1475


show annotations for term's descendants           Sort by:
renal coloboma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1an hypoxia inducible factor 1 subunit alpha inhibitor ISO ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar PMID:11461952 PMID:24676634 PMID:28492532 NCBI chr 1:253,368,400...253,385,495
Ensembl chr 1:243,419,194...243,434,327 		JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar PMID:11461952 PMID:24676634 PMID:28492532 NCBI chr 1:253,357,878...253,362,936
Ensembl chr 1:243,408,619...243,413,817 		JBrowse link
G Pax2 paired box 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:120330
ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome		 OMIM
CTD
MouseDO
ClinVar		 PMID:2644560 PMID:3077329 PMID:3377002 PMID:7795640 PMID:8589702 More... NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      renal coloboma syndrome 3
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              Eye Abnormalities 815
                coloboma 133
                  renal coloboma syndrome 3
paths to the root