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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: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS ClinVar PMID:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS ClinVar
OMIM
PMID:25741868 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          lipodystrophy 35
            partial lipodystrophy 11
              familial partial lipodystrophy 10
                familial partial lipodystrophy type 6 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Metabolic Skin Diseases 35
              lipodystrophy 35
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    familial partial lipodystrophy type 6 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.