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Items: 4

1.

Acute promyelocytic leukemia

Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007). [from OMIM]

MedGen UID:
44127
Concept ID:
C0023487
Neoplastic Process
2.

Progressive multifocal leukoencephalopathy

A progressive demyelination within the central nervous system associated with reactivation of a latent JC virus infection. [from NCI]

MedGen UID:
7327
Concept ID:
C0023524
Disease or Syndrome
3.

Atrichia with papular lesions

Atricia with papular lesions (APL) is characterized by hair loss soon after birth and the development, years later, of a diffuse papular rash over the entire skin surface. The papular rash distinguishes it from alopecia universalis (203655) (summary by Sprecher et al., 1999). [from OMIM]

MedGen UID:
395299
Concept ID:
C1859592
Disease or Syndrome
4.

Alpha granule disease

MedGen UID:
1842309
Concept ID:
C5681720
Disease or Syndrome
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