Mandibuloacral Dysplasia with Type B Lipodystrophy (MADB)

Mandibuloacral Dysplasia with Type B Lipodystrophy(来自ICD-11)
别称:
Madb
Lipodystrophy, Type B, Associated with Mandibuloacral Dysplasia
Lipodystrophy Type B Associated with Mandibuloacral Dysplasia
Dysplasia, Mandibuloacral, with Type B Lipodystrophy
Mandibuloacral Dysplasia Type B Lipodystrophy
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Mandibuloacral Dysplasia with Type B Lipodystrophy, also known as madb, is related to mandibuloacral dysplasia with type a lipodystrophy and calcinosis. An important gene associated with Mandibuloacral Dysplasia with Type B Lipodystrophy is ZMPSTE24 (Zinc Metallopeptidase STE24). Affiliated tissues include skin and bone, and related phenotypes are micrognathia and abnormality of the skeletal system
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MALACARDS
AR
Unknown
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1
6
14

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