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1.

Terminal osseous dysplasia-pigmentary defects syndrome

Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010). [from OMIM]

MedGen UID:
335344
Concept ID:
C1846129
Disease or Syndrome
2.

Localized skin lesion

A lesion of the skin that is located in a specific region rather than being generalized. [from HPO]

MedGen UID:
208858
Concept ID:
C0850826
Finding

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