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Metadata
ID DOID:0061277
PURL http://purl.obolibrary.org/obo/DOID_0061277 Copy
Name Senior-Loken syndrome 1
Definition A Senior-Loken syndrome that has_material_basis_in homozygous mutation in the NPHP1 gene on chromosome 2q13.
https://pubmed.ncbi.nlm.nih.gov/13763238/
Xrefs

MIM:266900

Parent Relationships

is_a Senior-Loken syndrome

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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