Search Ontology:
Human Disease

nephronophthisis 18

Term ID
DOID:0111125
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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