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Items: 13

1.

Chromosomal translocation

A genetic exchange where a piece of one chromosome is transfered to another chromosome. [from NCI]

MedGen UID:
21243
Concept ID:
C0040715
Cell or Molecular Dysfunction
2.

Separation

MedGen UID:
508125
Concept ID:
C0036679
Pathologic Function
3.

XY females

A person who has a chromosome composition of 46 XY and who is phenotypically female. [from NCI]

MedGen UID:
140940
Concept ID:
C0432470
Disease or Syndrome
4.

Short arm

MedGen UID:
98429
Concept ID:
C0426857
Finding
5.

XX males

A person who has a chromosome composition of 46 XX and who is phenotypically male. [from NCI]

MedGen UID:
96606
Concept ID:
C0432475
Disease or Syndrome
6.

Distal

Localized away from the central point of the body. [from HPO]

MedGen UID:
64375
Concept ID:
C0205108
Spatial Concept
7.

Allelic Imbalance

Any variance from the expected 1:1 ratio for the expression of the two inherited parental alleles for the same gene. [from NCI]

MedGen UID:
168420
Concept ID:
C0887935
Cell or Molecular Dysfunction
8.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
9.

Anomaly of sex chromosome

Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. [from MeSH]

MedGen UID:
19948
Concept ID:
C0036868
Congenital Abnormality; Disease or Syndrome
10.

Monosomy

A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.(WordNet) [from NCI]

MedGen UID:
6432
Concept ID:
C0026499
Congenital Abnormality
11.

Chromosomal Deletion

Loss of a portion of a chromosome arm. [from NCI]

MedGen UID:
3073
Concept ID:
C0008628
Cell or Molecular Dysfunction
12.

Chromosomal anomaly

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. [from MeSH]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
13.

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
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