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congenital generalized lipodystrophy

^ http://purl.obolibrary.org/obo/MONDO_0006536

An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. [ Wikipedia:Congenital_generalized_lipodystrophy ]

Term info

database cross reference
  • HP:0009059 (MONDO:otherHierarchy)
  • SCTID:284449005 (MONDO:equivalentTo)
  • OMIMPS:608594 (MONDO:equivalentTo)
  • DOID:0050585 (MONDO:equivalentTo)
  • EFO:1000681 (MONDO:equivalentTo)
IAO 0000589

congenital generalized lipodystrophy (disease)

definition

An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.

exactMatch

http://identifiers.org/snomedct/284449005, http://purl.obolibrary.org/obo/DOID_0050585, https://omim.org/phenotypicSeries/PS608594

has exact synonym

familial generalized lipodystrophy, congenital generalized lipodystrophy, lipodystrophy, congenital generalized, congenital generalized lipodystrophy (disease), hereditary generalized lipodystrophy

id

MONDO:0006536