OBO ID: DOID:0080380
Term Name: nephrotic syndrome type 5 Search Ontology:
Synonyms:
  • nephrotic syndrome type 5, with or without ocular abnormalities
Definition: A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. https://www.ncbi.nlm.nih.gov/pubmed/16912710
References:
Ontology: Human Disease   ( DOID:0080380 )
OTHER nephrotic syndrome type 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None