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Items: 2

1.

Autosomal erythropoietic protoporphyria

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. [from ORDO]

MedGen UID:
966646
Concept ID:
CN283243
Disease or Syndrome
2.

Epilepsy, partial, with pericentral spikes

MedGen UID:
337614
Concept ID:
C1846609
Disease or Syndrome

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