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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
familial partial lipodystrophy type 2
Summary
- Synonym
-
- FPLD2
- familial lipodystrophy of limbs and lower trunk
- familial partial lipodystrophy Dunnigan type
- reverse partial lipodystrophy
- Definition
- 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.
- Super Class
- autosomal dominant disease familial partial lipodystrophy
External Links
- Disease Ontology
- DOID:0070202
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06858 | Lipoprotein lipase |
