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Metadata
ID DOID:0080393
Name nephrotic syndrome type 18
Definition A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42.
https://www.ncbi.nlm.nih.gov/pubmed/30179222
Xrefs

OMIM:618177

Parent Relationships

is_a familial nephrotic syndrome

is_a autosomal recessive disease

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