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1.

Complete trisomy 21 syndrome

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. [from OMIM]

MedGen UID:
4385
Concept ID:
C0013080
Disease or Syndrome
2.

Acute megakaryoblastic leukemia

A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts. [from HPO]

MedGen UID:
44124
Concept ID:
C0023462
Neoplastic Process

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