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Metadata
ID DOID:0111114
Name nephronophthisis 3
Definition A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22.
https://www.ncbi.nlm.nih.gov/pubmed/12872122
Xrefs

MESH:C565780

OMIM:604387

Synonyms

NPH3 [EXACT]

NPHP3 [EXACT]

Parent Relationships

is_a nephronophthisis

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