Term Name:	nephronophthisis 1
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.
Ontology:	Human Disease [DOID:0111112]   ( DOID:0111112 )