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Items: 1 to 20 of 23

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.

22q11 Deletion Syndrome

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. [from MeSH]

MedGen UID:
422333
Concept ID:
C2936346
Disease or Syndrome
3.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
5.

Abnormality of the cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
116727
Concept ID:
C0243050
Disease or Syndrome
6.

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
7.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
8.

Congenital anomaly of musculoskeletal system

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
57466
Concept ID:
C0151491
Congenital Abnormality
9.

Vessel (polysaccharide)

MedGen UID:
56099
Concept ID:
C0148346
Organic Chemical; Pharmacologic Substance
10.

Heart, malformation of

An anatomical defect of a gross structure of the heart. [from NCI]

MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
11.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
12.

Heart disease

A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma. [from NCI]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
13.

Disorder of cardiovascular system

A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [from NCI]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
14.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
15.

Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome

MedGen UID:
832670
Concept ID:
CN226725
Congenital Abnormality
16.

Congenital hypoplasia of descending aorta

MedGen UID:
759195
Concept ID:
C3532082
Congenital Abnormality
17.

Congenital atresia of aortic arch

MedGen UID:
758772
Concept ID:
C3495452
Congenital Abnormality
18.

Congenital atresia of artery

MedGen UID:
539596
Concept ID:
C0265937
Congenital Abnormality
19.

Congenital hypoplasia of aorta

MedGen UID:
539562
Concept ID:
C0265892
Congenital Abnormality
20.

Congenital absence of aorta

MedGen UID:
539561
Concept ID:
C0265891
Congenital Abnormality
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