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ONTOLOGY REPORT - ANNOTATIONS


Term:renal coloboma syndrome
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Accession:DOID:0090006 term browser browse the term
Definition:An autosomal dominant disease 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 of optic nerve with renal disease;   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;   Renal-Coloboma Syndrome With Macular Abnormalities;   isolated renal hypoplasia;   papillo-renal syndrome, optic nerve coloboma with renal disease
 narrow_synonym: Papillorenal syndrome with macular abnormalities
 primary_id: MESH:C537168
 alt_id: OMIM:120330;   RDO:0002950
 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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Path 1
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  disease 15620
    syndrome 5159
      renal coloboma syndrome 1
Path 2
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  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              Eye Abnormalities 279
                coloboma 39
                  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.