retinitis pigmentosa 98

Term ID

DOID:0061109

Synonyms

• RP98

Definition

A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. https://pubmed.ncbi.nlm.nih.gov/39191256/

References

• MIM:620996

Ontology

Human Disease   ( DOID:0061109 )