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Metadata
ID DOID:0061283
PURL http://purl.obolibrary.org/obo/DOID_0061283 Copy
Name Senior-Loken syndrome 9
Definition A Senior-Loken syndrome characterized by early-onset nephronophthisis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAF3IP1 gene on chromosome 2q37.
https://pubmed.ncbi.nlm.nih.gov/26487268/
Xrefs

MIM:616629

Parent Relationships

is_a Senior-Loken syndrome

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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