OBO ID: DOID:0111125
Term Name: nephronophthisis 18 Search Ontology:
Synonyms:
  • NPHP18
Definition: A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. https://www.ncbi.nlm.nih.gov/pubmed/24882706
References:
Ontology: Human Disease   ( DOID:0111125 )
Relationships
is a type of:
OTHER nephronophthisis 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP83 Nephronophthisis 18 615862
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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