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Items: 5

1.

Aneuploidy

A chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24). [from NCI]

MedGen UID:
294
Concept ID:
C0002938
Cell or Molecular Dysfunction
2.

Gonosome structural anomaly

MedGen UID:
1842460
Concept ID:
C5680213
Cell or Molecular Dysfunction
3.

Abnormal breast morphology

Any anomaly of the structure of the breast. [from HPO]

MedGen UID:
1627648
Concept ID:
C4531292
Anatomical Abnormality
4.

Abnormality of the upper arm

MedGen UID:
871288
Concept ID:
C4025776
Anatomical Abnormality
5.

Short humerus

Underdevelopment of the humerus. [from HPO]

MedGen UID:
316907
Concept ID:
C1832117
Congenital Abnormality; Finding
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