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congenital generalized lipodystrophy

Go to external page http://purl.obolibrary.org/obo/MONDO_0006536

An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. [ http://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy ]

Synonyms: familial generalized lipodystrophy lipodystrophy, congenital generalised hereditary generalised lipodystrophy familial generalised lipodystrophy congenital generalized lipodystrophy congenital generalised lipodystrophy (disease) lipodystrophy, congenital generalized congenital generalized lipodystrophy (disease) hereditary generalized lipodystrophy

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:1200859 (https://orcid.org/0000-0003-0011-764X)
  • NORD:998 (MONDO:NORD)
  • OMIMPS:608594 (MONDO:equivalentTo)
  • DOID:0050585 (MONDO:equivalentTo)
  • MEDGEN:67438 (MONDO:equivalentTo)
  • HP:0009059 (MONDO:otherHierarchy)
  • EFO:1000681 (MONDO:equivalentTo)
  • SCTID:284449005 (MONDO:equivalentTo)
  • UMLS:C0221032 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, nord_rare

IAO 0000589

congenital generalized lipodystrophy (disease)

exactMatch

http://identifiers.org/medgen/67438

http://identifiers.org/snomedct/284449005

http://linkedlifedata.com/resource/umls/id/C0221032

http://purl.obolibrary.org/obo/DOID_0050585

https://omim.org/phenotypicSeries/PS608594

id

MONDO:0006536