Search Ontology:
Human Disease

retinitis pigmentosa 95

Term ID
DOID:0061112
Synonyms
  • RP95
Definition
A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/30377383/
References
Ontology
Human Disease   ( DOID:0061112 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
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