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Human Disease

Senior-Loken syndrome 4

Term ID
DOID:0061278
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0061278 )
Relationships
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Genes Involved
Zebrafish Models