FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term mandibuloacral dysplasia type B lipodystrophy ID (Ontology) DOID:0081129 (Human Disease)
Definition A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities.
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 mandibuloacral dysplasia type B lipodystrophy       4
 for disease ribbon | mandibuloacral dysplasia type B lipodystrophy       4
 model of | mandibuloacral dysplasia type B lipodystrophy       4
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autosomal genetic disease
 |__autosomal recessive disease__
bone development disease         |
 |__mandibuloacral dysplasia_____|
                                 mandibuloacral dysplasia type B lipodystrophy  4 rec.
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Is a autosomal recessive disease
mandibuloacral dysplasia
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MIM:608612