| Metadata | |
|---|---|
| ID | DOID:0070828 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070828 Copy |
| Name | X-linked retinal dystrophy, Gardner-Hardcastle type |
| Definition | A retinal degeneration characterized by early childhood onset of night blindness or light sensitivity, reduced visual acuity, and variable maculopathy with foveal hypoplasia that has_material_basis_in hemizygous interchromosomal insertion at chromosome Xq27. https://pubmed.ncbi.nlm.nih.gov/39892393/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012691 exactMatch MIM:301149 |
| Subsets |
DO_rare_slim |
| Synonyms |
RDXGH [EXACT] |
| Parent Relationships |
is_a X-linked recessive disease is_a retinal degeneration |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |