FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term mandibuloacral dysplasia type A lipodystrophy ID (Ontology) DOID:0081128 (Human Disease)
Definition A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk.
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 mandibuloacral dysplasia type A lipodystrophy       2
 for disease ribbon | mandibuloacral dysplasia type A lipodystrophy       2
 model of | mandibuloacral dysplasia type A lipodystrophy       2
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  bone development disease
   |__mandibuloacral dysplasia
       |__mandibuloacral dysplasia type A lipodystrophy  2 rec.
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GARD:3374
MIM:248370
ORDO:90153