Term Name: | nephronophthisis 20 |
---|---|
Synonyms: | NPHP20 |
Definition: | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. |
Ontology: | Human Disease [DOID:0111127] ( DOID:0111127 ) |