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Items: 3

1.

Retinitis pigmentosa 7

A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21. [from MONDO]

MedGen UID:
334168
Concept ID:
C1842475
Disease or Syndrome
2.

Late-onset retinal degeneration

Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003). [from OMIM]

MedGen UID:
344198
Concept ID:
C1854065
Disease or Syndrome
3.

Adult-onset night blindness

Inability to see well at night or in poor light with onset in adulthood. [from HPO]

MedGen UID:
870346
Concept ID:
C4024790
Disease or Syndrome
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