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mandibuloacral dysplasia
Disease Summary
Associated Targets (3)
Tbio
2
Tchem
1
Mondo Description Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DC:0000267
GARD:0011893
OMIMPS:248370
Orphanet:2457
UMLS:CN118835
MONDO:0016584
High level summary of knowledge for a disease, including descriptions and datasource references.