Metadata | |
---|---|
ID | DOID:0111126 |
Name | nephronophthisis 19 |
Definition | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. https://www.ncbi.nlm.nih.gov/pubmed/25557784 |
Xrefs | |
Synonyms |
NPHP19 [EXACT] |
Parent Relationships |
is_a nephronophthisis |