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Items: 2

1.

Porphyria cutanea tarda

A cutaneous form of the genetic photosensitive disease, porphyria, that is characterized by onset in adult life and the presence of scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia. Uroporphyrins are found in the urine due to a deficiency of uroporphyrinogen decarboxylase, an enzyme required for the synthesis of heme. [from NCI]

MedGen UID:
56453
Concept ID:
C0162566
Disease or Syndrome
2.

Decreased mean platelet volume

Average platelet volume below the lower limit of the normal reference interval. [from HPO]

MedGen UID:
322140
Concept ID:
C1833182
Finding

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