retinitis pigmentosa 92

Term ID

DOID:0061107

Synonyms

• RP92

Definition

A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. https://pubmed.ncbi.nlm.nih.gov/30085091/

References

• MIM:619614

Ontology

Human Disease   ( DOID:0061107 )