Search Ontology:
Human Disease

Senior-Loken syndrome 6

Term ID
DOID:0061280
Synonyms
Definition
A Senior-Loken syndrome characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration that has_material_basis_in homozygous mutation in the NPHP6 gene on chromosome 12q21. https://pubmed.ncbi.nlm.nih.gov/16682973/
References
Ontology
Human Disease   ( DOID:0061280 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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