FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term renal coloboma syndrome ID (Ontology) DOID:0090006 (Human Disease)
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.
Also Known As "CAKUT with or without ocular abnormalities" ; "coloboma of optic nerve with renal disease" ; "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities" (for all, see Synonyms field below)
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 Genes
 renal coloboma syndrome       2
 for disease ribbon | renal coloboma syndrome       2
 model of | renal coloboma syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                renal coloboma syndrome  2 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "CAKUT with or without ocular abnormalities" EXACT
    "coloboma of optic nerve with renal disease" EXACT
    "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities" EXACT
    "optic coloboma, vesicoureteral reflux and renal anomalies" EXACT
    "papillo-renal syndrome, optic nerve coloboma with renal disease" EXACT
    "papillorenal syndrome" EXACT
    "renal-coloboma syndrome with macular abnormalities" EXACT
Secondary IDs
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GARD:4106
ICD10CM:Q60.4
MIM:120330
ORDO:1475