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Items: 5

1.

Microtia

Underdevelopment of the external ear. [from HPO]

MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
2.

Abnormality of cardiovascular system morphology

Any structural anomaly of the heart and great vessels. [from HPO]

MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
3.

Cleft palate, isolated

Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530). Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570. [from OMIM]

MedGen UID:
332392
Concept ID:
C1837218
Congenital Abnormality
4.

Pulmonary hypoplasia

A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities. [from NCI]

MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
5.

Anotia

Complete absence of any auricular structures. [from HPO]

MedGen UID:
152377
Concept ID:
C0702139
Congenital Abnormality
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