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Items: 5

1.

Radial aplasia-thrombocytopenia syndrome

Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs and thrombocytopenia (<50 platelets/nL) that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow’s milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur. [from GeneReviews]

MedGen UID:
61235
Concept ID:
C0175703
Congenital Abnormality; Disease or Syndrome
2.

Hiv

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

MedGen UID:
5583
Concept ID:
C0019693
Disease or Syndrome
3.

Human immunodeficiency virus

MedGen UID:
842721
Concept ID:
C3854222
Disease or Syndrome
4.

Source

The originating point of the Content Item or record, including but not limited to archive import, Scan, fax, email, paper form. [from NCI_CareLex]

MedGen UID:
99076
Concept ID:
C0449416
Finding
5.

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
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