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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

OMIM:613550

Synonyms

NPHP11 [EXACT]

Parent Relationships

is_a nephronophthisis

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