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mandibuloacral dysplasia

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Explore Associated Targets
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.
Mondo Term and Equivalent IDs
MONDO:0016584:  mandibuloacral dysplasia
DC:0000267: 
GARD:0011893: 
OMIMPS:248370: 
Orphanet:2457: 
UMLS:CN118835: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found