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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:renal coloboma syndrome
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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
 primary_id: MESH:C537168
 alt_id: OMIM:120330
 xref: GARD:4106;   ORDO:1475
For additional species annotation, visit the Alliance of Genome Resources.


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renal coloboma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax2 paired box 2 ISO ClinVar Annotator: match by OMIM:120330
ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities
ClinVar Annotator: match by term: Renal coloboma syndrome
OMIM
ClinVar
PMID:2644560, PMID:3377002, PMID:7795640, PMID:8589702, PMID:8943028, PMID:9106533, PMID:9760197, PMID:10533062, PMID:11093271, PMID:11241473, PMID:11461952, PMID:15652857, PMID:22213154, PMID:24429398, PMID:24676634, PMID:25741868, PMID:27226968, PMID:27657687, PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr 1:264,493,579...264,585,073
Ensembl chr 1:264,504,591...264,583,329
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      renal coloboma syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                renal coloboma syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.