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ONTOLOGY REPORT - ANNOTATIONS


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
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renal coloboma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax2 paired box 2 JBrowse link 1 264,493,579 264,585,073 RGD:7240710
RGD:8554872

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  disease 16017
    syndrome 6145
      renal coloboma syndrome 1
Path 2
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  disease 16017
    Developmental Diseases 9333
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8162
        genetic disease 7686
          monogenic disease 5443
            autosomal genetic disease 4407
              autosomal dominant disease 2745
                renal coloboma syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.