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DO Term : familial partial lipodystrophy type 2 [DOID:0070202] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
  • synonyms:
  • OMIM:151660,
  • FPLD2,
  • 151660,
  • ORDO:2348,
  • reverse partial lipodystrophy,
  • familial partial lipodystrophy Dunnigan type,
  • NCI:C165527,
  • familial lipodystrophy of limbs and lower trunk,
  • GARD:3126,
  • SNOMEDCT_US_2023_03_01:715439000,
  • MESH:D052496,
  • UMLS_CUI:C1720860
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents