| Metadata | |
|---|---|
| ID | DOID:0061113 |
| Name | retinitis pigmentosa 78 |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:617433 |
| Synonyms |
RP78 [EXACT] |
| Parent Relationships |
is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has material basis in some Young adult onset |