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ENRestrictive Dermopathy
Alias:
Lethal Restrictive Dermopathy
Lethal Hyperkeratosis-Contracture Syndrome
Lethal Tight Skin Contracture Syndrome
Lethal Tight Skin-Contracture Syndrome
Tight Skin Contracture Syndrome, Lethal
Hyperkeratosis-Contracture Syndrome
Infantile Restrictive Dermopathy
Tight Skin Contracture Syndrome
Restrictive Dermopathy, Lethal
Dermopathy, Restrictive
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Restrictive Dermopathy, also known as lethal restrictive dermopathy, is related to restrictive dermopathy 1 and mandibuloacral dysplasia with type b lipodystrophy. An important gene associated with Restrictive Dermopathy is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways/superpathways are Familial partial lipodystrophy and Progeria-associated lipodystrophy. Affiliated tissues include skin and placenta, and related phenotypes are stiff skin and osteopenia
Related ID：
MESH：C536920
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MALACARDS
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