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Results: 8

1.

Ocular Myopathy with Hypogonadism

MedGen UID:
501250
Concept ID:
C3496241
Disease or Syndrome
2.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
3.

Mosaicism

The occurrence of 2 or more cell lines with different genetic or chromosomal make-up, within a single individual or tissue. [from NCI]

MedGen UID:
452472
Concept ID:
C0392053
Cell or Molecular Dysfunction
4.

Somatic mosaicism

MedGen UID:
356183
Concept ID:
C1866227
Finding
5.

Left

Being or located on or directed toward the side of the body to the west when facing north. [from NCI]

MedGen UID:
104642
Concept ID:
C0205091
6.

DNA Breaks

Interruptions in the sugar-phosphate backbone of DNA. [from MeSH]

MedGen UID:
354581
Concept ID:
C1721104
Molecular Function
7.

DNA Breaks, Double-Stranded

Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently. [from MeSH]

MedGen UID:
267994
Concept ID:
C1511667
Cell or Molecular Dysfunction
8.

DNA damage

Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS. [from MeSH]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction

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