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Metadata
ID DOID:0111117
Name nephronophthisis-like nephropathy 1
Definition A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.
https://www.ncbi.nlm.nih.gov/pubmed/20179356
Xrefs

OMIM:613159

Synonyms

NPHPL1 [EXACT]

Parent Relationships

is_a nephronophthisis

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