| Metadata | |
|---|---|
| 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/10577936, https://www.ncbi.nlm.nih.gov/pubmed/9660941 |
| Xrefs |
MEDDRA:10060740 SNOMEDCT_US_2023_03_01:197601003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Finnish congenital nephrosis [EXACT] |
| Parent Relationships |