Search Ontology:
Human Disease

retinitis pigmentosa 17

Term ID
DOID:0110404
Synonyms
  • RP17
Definition
A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1. https://pubmed.ncbi.nlm.nih.gov/33022222/
References
Ontology
Human Disease   ( DOID:0110404 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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