Term Name: nephronophthisis 18
Synonyms: NPHP18
Definition: A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.
Ontology: Human Disease [DOID:0111125]   ( DOID:0111125 )

Relationships
is a type of: nephronophthisis