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congenital generalized lipodystrophy type 4

^ http://purl.obolibrary.org/obo/MONDO_0013225

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • OMIM:613327 (Orphanet:228429/e)
  • MESH:C567642 (MONDO:equivalentTo)
  • Orphanet:228429 (OMIM:613327)
  • GARD:0010937 (MONDO:equivalentTo)
  • DOID:0111138 (MONDO:equivalentTo)
  • UMLS:C2750069 (Orphanet:228429)
Subsets

ordo_disease

abbreviation
BSCL4 [ DOID:0111138 ]

abbreviation
CGL4 [ DOID:0111138 OMIM:613327 MONDO:Lexical ]

abbreviation
GCL4 [ Orphanet:228429 DOID:0111138 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5723, https://github.com/monarch-initiative/mondo/issues/4069

definition

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C2750069, https://omim.org/entry/613327, http://identifiers.org/mesh/C567642, http://purl.obolibrary.org/obo/Orphanet_228429, http://purl.obolibrary.org/obo/DOID_0111138

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005336, http://purl.obolibrary.org/obo/MONDO_0005015

has exact synonym

generalized congenital lipodystrophy type 4, BSCL4, CGL4, GCL4, Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy, generalized congenital lipodystrophy with myopathy, congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1, CAVIN1 congenital generalized lipodystrophy (disease)

has related synonym

lipodystrophy, congenital generalized, type 4, lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy, Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy

id

MONDO:0013225