retinitis pigmentosa 90

Term ID

DOID:0112147

Synonyms

• RP90

Definition

A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. https://pubmed.ncbi.nlm.nih.gov/28412069/

References

• OMIM:619007

Ontology

Human Disease   ( DOID:0112147 )