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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:partial lipodystrophy
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Accession:DOID:0080299 term browser browse the term
Definition:A lipodystrophy that is characterized by partial loss of adipose tissue. (DO)
Synonyms:exact_synonym: APLD;   Barraquer-Simons Syndrome;   Lipodystrophy, Cephalothoracic Type;   partial lipodystrophy, acquired;   progressive partial lipodystrophy
 related_synonym: APLD, SUSCEPTIBILITY TO;   susceptibility to partial acquired lipodystrophy
 primary_id: MESH:C562448
 alt_id: OMIM:608709
 xref: EFO:0020027


show annotations for term's descendants           Sort by:
partial lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: APLD, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Acquired partial lipodystrophy | ClinVar Annotator: match by term: Lipodystrophy, partial, acquired, susceptibility to		 CTD
OMIM
ClinVar		 PMID:16826530 PMID:22768673 PMID:22995991 PMID:25741868 PMID:26467025 More... NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665 		JBrowse link
familial partial lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 AKT serine/threonine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173 		JBrowse link
G Lipe lipase E, hormone sensitive type ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310 		JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial
DNA:missense mutations:cds:multiple (human)		 CTD
ClinVar
RGD		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... RGD:12791019 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Plin1 perilipin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial partial lipodystrophy		 CTD
ClinVar
MouseDO		 PMID:19793595 PMID:21479595 PMID:25741868 PMID:28492532 PMID:28641778 More... NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISS OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 MouseDO NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
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: Partial lipodystrophy, Dunnigan OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2270059 PMID:2733290 PMID:9500556 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
familial partial lipodystrophy type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy ClinVar NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy OMIM
ClinVar		 PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 More... NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
familial partial lipodystrophy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: PLIN1-related condition | ClinVar Annotator: match by term: PLIN1-related familial partial lipodystrophy OMIM
ClinVar		 PMID:18414213 PMID:21345103 PMID:25114292 PMID:25741868 PMID:28492532 More... NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828 		JBrowse link
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 chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173 		JBrowse link
familial partial lipodystrophy type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS ClinVar PMID:31358993 NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632 		JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: LIPE-related familial partial lipodystrophy OMIM
ClinVar		 PMID:24375490 PMID:24848981 PMID:25475467 PMID:25741868 PMID:27862896 More... NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310 		JBrowse link
Familial Partial Lipodystrophy Type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11739396 PMID:18211975 PMID:18237401 PMID:25356970 PMID:25741868 More... NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
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
Familial Partial Lipodystrophy Type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plaat3 phospholipase A and acyltransferase 3 ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 9 OMIM
ClinVar		 NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667 		JBrowse link
GARG-MISHRA PROGEROID SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome ClinVar
OMIM		 PMID:36282599 PMID:36299998 NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962 		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
              GARG-MISHRA PROGEROID SYNDROME 1
              familial partial lipodystrophy + 12
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
                    GARG-MISHRA PROGEROID SYNDROME 1
                    familial partial lipodystrophy + 12
paths to the root