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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: ADRA2A-RELATED CONDITION;   FPLD8;   LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8
 primary_id: MIM: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: ADRA2A-related condition | ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 8 OMIM
ClinVar		 PMID:25741868 PMID:27376152 NCBI chr 9:104,015,577...104,019,364
Ensembl chr 9:104,016,580...104,017,932 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    Nutritional and Metabolic Diseases 7390
      disease of metabolism 7390
        lipid metabolism disorder 1713
          lipodystrophy 197
            partial lipodystrophy 13
              familial partial lipodystrophy 11
                Familial Partial Lipodystrophy Type 8 1
Path 2
Term Annotations click to browse term
  disease 15415
    Pathological Conditions, Signs and Symptoms 12061
      Signs and Symptoms 10141
        Neurologic Manifestations 9818
          sensory system disease 6934
            skin disease 4058
              Metabolic Skin Diseases 197
                lipodystrophy 197
                  partial lipodystrophy 13
                    familial partial lipodystrophy 11
                      Familial Partial Lipodystrophy Type 8 1
paths to the root