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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 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      renal coloboma syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                renal coloboma syndrome 1
paths to the root