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Items: 3

1.

AL-RAQAD SYNDROME

MedGen UID:
850735
Concept ID:
CN231448
Disease or Syndrome
2.

Bornholm eye disease

Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities (Schwartz et al., 1990). [from OMIM]

MedGen UID:
463611
Concept ID:
C3159311
Disease or Syndrome
3.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
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