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familial partial lipodystrophy type 2 - Ontology Report - Rat Genome Database

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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 2
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Accession:DOID:0070202 term browser browse the term
Definition:A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: Dunnigan syndrome;   FPLD2;   familial lipodystrophy of limbs and lower trunk;   familial partial lipodystrophy Dunnigan type;   partial lipodystrophy, Dunnigan
 xref: GARD:3126;   MIM:151660;   MONDO:0007906;   NCI:C165527;   ORDO:2348

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familial partial lipodystrophy type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Lipodystrophy, familial, of limbs and lower trunk | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2270059 PMID:2338570 PMID:2733290 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          Laminopathies 58
            familial partial lipodystrophy type 2 1
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              Metabolic Skin Diseases 201
                lipodystrophy 201
                  partial lipodystrophy 14
                    familial partial lipodystrophy 12
                      familial partial lipodystrophy type 2 1
paths to the root