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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 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
Disease or Syndrome
2.

Abnormal shoulder morphology

An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. [from HPO]

MedGen UID:
871182
Concept ID:
C4025659
Anatomical Abnormality

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