retinitis pigmentosa 83

Term ID

DOID:0112140

Synonyms

• RP83

Definition

A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. https://pubmed.ncbi.nlm.nih.gov/30932721/

References

• MIM:618173

Ontology

Human Disease   ( DOID:0112140 )