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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 4
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Accession:DOID:0070205 term browser browse the term
Definition:A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. (DO)
Synonyms:exact_synonym: FPLD4;   PLIN1-related FPLD;   PLIN1-related familial partial lipodystrophy;   familial partial lipodystrophy associated with PLIN1 mutations
 primary_id: OMIM:613877
 xref: GARD:12601;   ORDO:280356
For additional species annotation, visit the Alliance of Genome Resources.


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familial partial lipodystrophy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 4
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
ClinVar
OMIM
PMID:21345103 PMID:25741868 PMID:28492532 NCBI chr 1:141,458,907...141,470,927
Ensembl chr 1:141,458,181...141,471,010
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        lipid metabolism disorder 908
          lipodystrophy 35
            partial lipodystrophy 11
              familial partial lipodystrophy 10
                familial partial lipodystrophy type 4 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            Metabolic Skin Diseases 35
              lipodystrophy 35
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    familial partial lipodystrophy type 4 1
paths to the root