Patterned macular dystrophy 1

Definition

Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.

Also known as macular dystrophy, butterfly-shaped pigmentary, macular dystrophy, patterned, type 1, MDPT1, patterned macular dystrophy caused by mutation in PRPH2, patterned macular dystrophy type 1, PRPH2 patterned macular dystrophy — per MONDO

Also identified as

• DOID 0060866 per MONDO
• OMIM 169150 per MONDO
• UMLS C4551999 per MONDO