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Items: 2

1.

Pelger-Huët anomaly

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. [from NCI]

MedGen UID:
10617
Concept ID:
C0030779
Disease or Syndrome
2.

Facial hemiatrophy

Unilateral atrophy of facial tissues, including muscles, bones and skin. [from HPO]

MedGen UID:
8761
Concept ID:
C0015458
Disease or Syndrome

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