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Items: 4

1.

Neuroblastoma, susceptibility to, 1

MedGen UID:
412713
Concept ID:
C2749485
Finding
2.

Acroosteolysis-keloid-like lesions-premature aging syndrome

Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015). [from OMIM]

MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
3.

Francois syndrome

Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by Bierly et al., 1992). [from OMIM]

MedGen UID:
98151
Concept ID:
C0432288
Disease or Syndrome
4.

Skin nodule

Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. [from HPO]

MedGen UID:
52367
Concept ID:
C0037287
Finding
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