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Mandibuloacral dysplasia with type B lipodystrophy MeSH Supplementary Concept Data 2025


MeSH Supplementary
Mandibuloacral dysplasia with type B lipodystrophy
Unique ID
C535706
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535706
Entry Term(s)
Lipodystrophy, type B, associated with mandibuloacral dysplasia
Registry Numbers
0
Heading Mapped to
*Lipodystrophy
*Craniofacial Abnormalities
Frequency
7
Note
Autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, and mottled cutaneous pigmentation. Associated with mutations in the gene encoding ZMPSTE24 protein.
Source
Am. J. Med. Genet. 1992;43: 877
Date of Entry
2010/08/25
Revision Date
2012/11/05
Mandibuloacral dysplasia with type B lipodystrophy Preferred
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