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Items: 2

1.

Skin/hair/eye pigmentation 3, blue/green eyes

MedGen UID:
460487
Concept ID:
C3149136
Finding
2.

Temperature-sensitive oculocutaneous albinism type 1

An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted. [from ORDO]

MedGen UID:
337736
Concept ID:
C1847132
Disease or Syndrome

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