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. [ Orphanet:2457 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0011893 (Orphanet-shared)
  • Orphanet:2457 (MONDO:equivalentTo)
  • OMIMPS:248370 (MONDO:equivalentTo)
  • ICD10:Q87.5 (Orphanet:2457)
  • UMLS:CN118835 (MONDO:equivalentTo)
  • DC:0000267 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
MAD [ Orphanet:2457 ]

definition

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0432291

http://www.orpha.net/ORDO/Orphanet_2457

http://linkedlifedata.com/resource/umls/id/CN118835

has exact synonym

MAD

mandibuloacral dysplasia with lipodystrophy

id

MONDO:0016584

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml