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nephrotic syndrome type 1
Summary
- Synonym
-
- Finnish congenital nephrosis
- Definition
- A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0080390
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
