renal coloboma syndrome

Term ID

DOID:0090006

Synonyms

• 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
• optic coloboma, vesicoureteral reflux and renal anomalies
• papillo-renal syndrome, optic nerve coloboma with renal disease
• papillorenal syndrome
• renal-coloboma syndrome with macular abnormalities

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. (2)

References

• GARD:4106
• ICD10CM:Q60.4
• OMIM:120330
• ORDO:1475

Ontology

Human Disease   ( DOID:0090006 )