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Items: 8

1.

Visceral heterotaxy 5, autosomal

Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from OMIM]

MedGen UID:
501198
Concept ID:
C3495537
Congenital Abnormality
2.

Triglyceride storage disease with ichthyosis

Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability.The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. [from GHR]

MedGen UID:
82780
Concept ID:
C0268238
Disease or Syndrome
3.

Situs inversus viscerum

A left-right reversal (or \ [from HPO]

MedGen UID:
52359
Concept ID:
C0037221
Congenital Abnormality
4.

Immunodeficiency

MedGen UID:
505335
Concept ID:
CN002471
Finding
5.

Immune dysregulation

MedGen UID:
335001
Concept ID:
C1844666
Finding
6.

Immunodeficiency

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. [from NCI]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
7.

Hiv

An infection caused by the human immunodeficiency virus. [from NCI]

MedGen UID:
5583
Concept ID:
C0019693
Disease or Syndrome
8.

AIDS, progression to

MedGen UID:
324465
Concept ID:
C1836233
Finding
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