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mandibuloacral dysplasia with type B lipodystrophy

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk.
Mondo Term and Equivalent IDs
MONDO:0012074:  mandibuloacral dysplasia with type B lipodystrophy
GARD:0009989: 
MESH:C535706: 
Orphanet:90154: 
UMLS:C1837756: