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DO Term : nephrotic syndrome type 1 [DOID:0080390] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:197601003,
  • MEDDRA:10060740,
  • 256300,
  • OMIM:256300,
  • GARD:1500,
  • Finnish congenital nephrosis,
  • ORDO:839,
  • NCI:C122795,
  • UMLS_CUI:C0403399
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents