Search Ontology:
Human Disease

retinitis pigmentosa 101

Term ID
DOID:0061299
Synonyms
Definition
A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12. https://pubmed.ncbi.nlm.nih.gov/28542676/
References
Ontology
Human Disease   ( DOID:0061299 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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