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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
 primary_id: OMIM:151660
 xref: GARD:3126;   NCI:C165527;   ORDO:2348
For additional species annotation, visit the Alliance of Genome Resources.


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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: Partial lipodystrophy, Dunnigan
ClinVar Annotator: match by term: Lipodystrophy, familial, of limbs and lower trunk
OMIM
ClinVar
PMID:2007407, PMID:10441578, PMID:10587585, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10810087, PMID:10814726, PMID:10868844, PMID:10939567, PMID:10999791, PMID:10999845, PMID:11078466, PMID:11136544, PMID:11342468, PMID:11792809, PMID:12015247, PMID:12628721, PMID:12788894, PMID:12920062, PMID:12927424, PMID:12927431, PMID:14607793, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15475483, PMID:15668447, PMID:15688064, PMID:15770669, PMID:15843403, PMID:15996213, PMID:15998779, PMID:16181372, PMID:16278265, PMID:16364671, PMID:16415042, PMID:16809772, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17250669, PMID:17377071, PMID:18256394, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18585512, PMID:18611980, PMID:18728124, PMID:18795223, PMID:18926329, PMID:19011997, PMID:19201734, PMID:19283854, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19859838, PMID:20074070, PMID:20127487, PMID:20130076, PMID:20625965, PMID:20848652, PMID:21883346, PMID:22103508, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22464770, PMID:22700598, PMID:22918509, PMID:23071165, PMID:23183350, PMID:23313286, PMID:23427149, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24721642, PMID:24846508, PMID:25163546, PMID:25214167, PMID:25351510, PMID:25367549, PMID:25637381, PMID:25741868, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26662654, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27841971, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28663758, PMID:28785654, PMID:28874324, PMID:29078011, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:30165862, PMID:30311386, PMID:30420677 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        lipid metabolism disorder 900
          lipodystrophy 35
            partial lipodystrophy 11
              familial partial lipodystrophy 10
                familial partial lipodystrophy type 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Metabolic Skin Diseases 35
              lipodystrophy 35
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    familial partial lipodystrophy type 2 1
paths to the root

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