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Items: 5

1.

Abnormality of chromosome stability

A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. [from HPO]

MedGen UID:
1631925
Concept ID:
C4551705
Cell or Molecular Dysfunction
2.

Increased sensitivity to ionizing radiation

An abnormally increased sensitivity to the effects of ionizing radiation. [from HPO]

MedGen UID:
867472
Concept ID:
C4021850
Finding
3.

Abnormal circulating sulfur amino acid concentration

Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. [from HPO]

MedGen UID:
867297
Concept ID:
C4021660
Finding
4.

Defective DNA repair after ultraviolet radiation damage

MedGen UID:
368469
Concept ID:
C1968564
Finding
5.

Increased cellular sensitivity to UV light

MedGen UID:
346648
Concept ID:
C1857707
Finding
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