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Items: 2

1.

Focal segmental glomerulosclerosis 9

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. [from MONDO]

MedGen UID:
863992
Concept ID:
C4015555
Disease or Syndrome
2.

Ventriculomegaly-cystic kidney disease

Ventriculomegaly with cystic kidney disease (VMCKD) is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015). See also 602200 for a disorder characterized by ventriculomegaly and defects of the radius and kidney. [from OMIM]

MedGen UID:
346584
Concept ID:
C1857423
Disease or Syndrome

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