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renal aplasia/agenesis
Genetics:
- associated with defects in RET
- associated with defects in UPK3A
Pathology:
- absence of one or both kidneys at birth
- bilateral renal agenesis belongs to a group of perinatally lethal renal diseases, including severe bilateral renal dysplasia, unilateral renal agenesis with contralateral dysplasia & severe obstructive uropathy
Related
renal aplasia/agenesis
General
congenital anomaly (birth defect)
genetic disease of the kidney
Database Correlations
OMIM 191830
References
- UniProt :accession P07949
- UniProt :accession O75631
- OMIM :accession 191830