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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 8
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Accession:DOID:9007068 term browser browse the term
Definition:An autosomal dominant disorder characterized by abnormal distribution of subcutaneous adipose tissue. Caused by heterozygous mutation in the ADRA2A gene on chromosome 10q25.
Synonyms:exact_synonym: FPLD8;   LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8
 primary_id: OMIM:620679


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Familial Partial Lipodystrophy Type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra2a adrenoceptor alpha 2A ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 8 OMIM
ClinVar		 PMID:27376152 NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        lipid metabolism disorder 1739
          lipodystrophy 200
            partial lipodystrophy 14
              familial partial lipodystrophy 12
                Familial Partial Lipodystrophy Type 8 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Metabolic Skin Diseases 200
                lipodystrophy 200
                  partial lipodystrophy 14
                    familial partial lipodystrophy 12
                      Familial Partial Lipodystrophy Type 8 1
paths to the root