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Metadata
ID DOID:0061278
PURL http://purl.obolibrary.org/obo/DOID_0061278 Copy
Name Senior-Loken syndrome 4
Definition A Senior-Loken syndrome characterized by the association of the cystic renal disorder nephronophthisis with early-onset retinitis pigmentosa that has_material_basis_in homozygous mutation in the NPHP4 gene on chromosome 1p36.
https://pubmed.ncbi.nlm.nih.gov/11920287/
Xrefs

MIM:606996

Parent Relationships

is_a Senior-Loken syndrome

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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