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Metadata
ID	DOID:0081129
Name	mandibuloacral dysplasia type B lipodystrophy
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. https://pubmed.ncbi.nlm.nih.gov/11836320/
Xrefs	MIM:608612
Parent Relationships	is_a autosomal recessive disease is_a mandibuloacral dysplasia
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance