retinitis pigmentosa 78

Term ID

DOID:0061113

Synonyms

• RP78

Definition

A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/28132693/

References

• MIM:617433

Ontology

Human Disease   ( DOID:0061113 )