OBO ID: DOID:0111127
Term Name: nephronophthisis 20 Search Ontology:
Synonyms:
  • NPHP20
Definition: A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. https://www.ncbi.nlm.nih.gov/pubmed/28089251
References:
Ontology: Human Disease   ( DOID:0111127 )
OTHER nephronophthisis 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MAPKBP1 Nephronophthisis 20 617271
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None