Metadata | |
---|---|
ID | DOID:0111118 |
Name | nephronophthisis 11 |
Definition | A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. https://www.ncbi.nlm.nih.gov/pubmed/19508969 |
Xrefs | |
Synonyms |
NPHP11 [EXACT] |
Parent Relationships |
is_a nephronophthisis |