Term Name: nephronophthisis-like nephropathy 1
Synonyms: NPHPL1
Definition: A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.
Ontology: Human Disease [DOID:0111117]   ( DOID:0111117 )

Relationships
is a type of: nephronophthisis