Metadata | |
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ID | DOID:0080390 |
Name | nephrotic syndrome type 1 |
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. https://www.ncbi.nlm.nih.gov/pubmed/9660941, https://www.ncbi.nlm.nih.gov/pubmed/10577936 |
Xrefs |
SNOMEDCT_US_2023_03_01:197601003 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
Finnish congenital nephrosis [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |