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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:familial partial lipodystrophy type 6
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Accession:DOID:0070206 term browser browse the term
Definition:A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: FPLD6;   LIPE-related FPLD;   LIPE-related familial partial lipodystrophy;   familial partial lipodystrophy associated with LIPE mutations
 primary_id: OMIM:615980
 xref: ORDO:435660
For additional species annotation, visit the Alliance of Genome Resources.



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familial partial lipodystrophy type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: LIPE-related familial partial lipodystrophy ClinVar PMID:31358993 NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: LIPE-related familial partial lipodystrophy ClinVar
OMIM
PMID:25741868 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        lipid metabolism disorder 1146
          lipodystrophy 38
            partial lipodystrophy 11
              familial partial lipodystrophy 10
                familial partial lipodystrophy type 6 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            Metabolic Skin Diseases 38
              lipodystrophy 38
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    familial partial lipodystrophy type 6 2
paths to the root