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Items: 2

1.

Restrictive dermopathy 1

A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. [from MONDO]

MedGen UID:
1812447
Concept ID:
C5676878
Disease or Syndrome
2.

Increased anterioposterior diameter of thorax

MedGen UID:
336414
Concept ID:
C1848760
Finding

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