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MedGen for PubMed (Select 21545985)

Items: 8

1.

Defect in the atrial septum

Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. [from HPO]

MedGen UID:
504879
Concept ID:
CN001485
Finding
2.

Atrioventricular canal defect

A defect of the atrioventricular septum of the heart. [from HPO]

MedGen UID:
446776
Concept ID:
CN005830
Finding
3.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
4.

Ventricular septal defect

MedGen UID:
347827
Concept ID:
C1859213
Finding
5.

Atrioventricular septal defect

The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). Genetic Heterogeneity of Isolated Atrioventricular Septal Defect An AVSD susceptibility locus (AVSD1) maps to chromosome 1p31-p21; AVSD2 (606217) is caused by mutation in the CRELD1 gene (607170) on chromosome 3p25; AVSD3 (600309) is caused by mutation in the GJA1 gene (121014) on chromosome 6q22; AVSD4 (614430) is caused by mutation in the GATA4 gene (600576) on chromosome 8p23.1; and AVSD5 (614474) is caused by mutation in the GATA6 gene (601656) on chromosome 18q11. Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with AVSDs. [from OMIM]

MedGen UID:
342900
Concept ID:
C1853513
Disease or Syndrome; Finding
6.

Atrioventricular septal defect and common atrioventricular junction

MedGen UID:
83375
Concept ID:
C0344783
Congenital Abnormality
7.

Ventricular septal defect

Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. [from MeSH]

MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality; Congenital Abnormality
8.

Atrial septal defect

defect in the wall between the lower chambers of the heart [from CHV]

MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
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