WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050585
Child Term . Identifier  DOID:0111136 Direct  true
Redundant  false
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1 Child Term

Identifier Name Description
DOID:0111136 congenital generalized lipodystrophy type 2 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.

1 Parent Term

Identifier Name Description
DOID:0050585 congenital generalized lipodystrophy A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.