OBO ID: DOID:0111112
Term Name: nephronophthisis 1 Search Ontology:
Synonyms:
  • juvenile nephronophthisis 1
  • NPH1
  • NPHP1
Definition: A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (2)
References:
Ontology: Human Disease   (DOID:0111112)
OTHER nephronophthisis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NPHP1 Nephronophthisis 1, juvenile 256100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None