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Items: 6

1.

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. [from MeSH]

MedGen UID:
424691
Concept ID:
C2936267
Cell or Molecular Dysfunction
2.

Radiation-Related Leukemia

Leukemia produced by exposure to IONIZING RADIATION or NON-IONIZING RADIATION. [from MeSH]

MedGen UID:
6063
Concept ID:
C0023488
Neoplastic Process
3.

FBXW7 Gene Mutation

A change in the nucleotide sequence of the FBXW7 gene. [from NCI]

MedGen UID:
1377190
Concept ID:
C4329952
Cell or Molecular Dysfunction
4.

Hyperthreoninemia

MedGen UID:
807628
Concept ID:
CN220134
Finding
5.

Threoninemia

MedGen UID:
336439
Concept ID:
C1848861
Finding
6.

Mouse Precursor T Cell Lymphoblastic Lymphoma/Leukemia

MedGen UID:
271196
Concept ID:
C1513675
Neoplastic Process
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