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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 5
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Accession:DOID:0070203 term browser browse the term
Definition:A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: CIDEC-related FPLD;   FPLD5;   familial partial lipodystrophy associated with CIDEC mutations
 primary_id: MIM:615238
 xref: ORDO:435651


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familial partial lipodystrophy type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS OMIM
ClinVar		 PMID:18654663 PMID:20049731 PMID:25741868 NCBI chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15279
    Nutritional and Metabolic Diseases 7113
      disease of metabolism 7113
        lipid metabolism disorder 1567
          lipodystrophy 194
            partial lipodystrophy 13
              familial partial lipodystrophy 11
                familial partial lipodystrophy type 5 1
Path 2
Term Annotations click to browse term
  disease 15279
    Pathological Conditions, Signs and Symptoms 11850
      Signs and Symptoms 9805
        Neurologic Manifestations 9491
          sensory system disease 6601
            skin disease 3814
              Metabolic Skin Diseases 194
                lipodystrophy 194
                  partial lipodystrophy 13
                    familial partial lipodystrophy 11
                      familial partial lipodystrophy type 5 1
paths to the root