FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mandibuloacral dysplasia ID (Ontology) DOID:0081127 (Human Disease)
Definition A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body.
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  bone disease
   |__bone development disease
       |__mandibuloacral dysplasia  6 rec.
           |__mandibuloacral dysplasia type A lipodystrophy 2 rec.
           |__mandibuloacral dysplasia type B lipodystrophy 4 rec.
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GARD:11893
MIM:PS248370
ORDO:2457