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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:lipoma
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Accession:DOID:3315 term browser browse the term
Definition:A cell type benign neoplasm that is composed of lipocytes. (DO)
Synonyms:exact_synonym: Atypical Lipoma;   Fatty Tumor;   Fatty Tumors;   Hibernoma;   Hibernomas;   LIPOMATOSIS, FAMILIAL MULTIPLE;   Lipomas;   atypical lipomas;   benign lipomatous tumor;   benign tumor of adipose tissue;   lipomata;   lipomatas;   lipomatous neoplasm;   lipomatous tumor;   tumor of adipose tissue
 narrow_synonym: Lipoma, somatic
 primary_id: MESH:D008067
 xref: EFO:0000759;   ICD10CM:D17;   ICD10CM:D17.9;   ICD9CM:214;   ICDO:8850/0;   NCI:C21634;   NCI:C3192;   NCI:C3702;   NCI:C4248;   NCI:C4502
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO RGD PMID:7606786 RGD:1601567 NCBI chr 7:57,762,710...57,884,555
Ensembl chr 7:55,880,112...55,994,784 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Lipoma, somatic ClinVar PMID:9103196 PMID:9215690 PMID:9463336 PMID:9498491 PMID:9671267 More... NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
CLOVES syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ClinVar PMID:25741868 PMID:26778290 PMID:27476652 PMID:28492532 PMID:31726051 More... NCBI chr 7:8,814,285...8,828,628
Ensembl chr 7:8,162,750...8,179,812 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO
ISS		 ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
OMIM:612918
CTD Direct Evidence: marker/mechanism
DNA: missense mutations: exon :p.H1047R, p.H1047L		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... RGD:13207409 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: CLOVES syndrome ClinVar PMID:25741868 PMID:34040190 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
corpus callosum lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Corpus callosum lipoma ClinVar PMID:25741868 NCBI chr 8:55,098,821...55,121,416
Ensembl chr 8:46,202,131...46,224,705 		JBrowse link
Lipoblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plag1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:16308870 NCBI chr 5:21,699,650...21,754,325
Ensembl chr 5:16,905,394...16,913,647 		JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr 9:72,203,598...72,242,287
Ensembl chr 9:64,709,880...64,744,265 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of cellular proliferation 7891
      benign neoplasm 2223
        cell type benign neoplasm 1960
          lipoma 10
            CLOVES syndrome 3
            Lipoblastoma 1
            Lipoma of the Conjunctiva 0
            Lipomatous Hemangiopericytoma 0
            Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
            Nasopalpebral Lipoma Coloboma Syndrome 1
            angiolipoma + 0
            axillary lipoma 0
            breast lipoma 0
            central nervous system lipoma + 1
            chest wall lipoma 0
            chondroid lipoma 0
            conventional lipoma 0
            endobronchial lipoma 0
            esophageal lipoma 0
            external ear lipoma 0
            extrahepatic bile duct lipoma 0
            familial multiple lipomatosis 0
            gallbladder lipoma 0
            heart lipoma + 0
            infiltrating lipoma 0
            internal auditory canal lipoma 0
            kidney lipoma 0
            large intestine lipoma + 0
            lipoadenoma 0
            liver lipoma 0
            lumbosacral lipoma 0
            paratesticular lipoma + 0
            pleomorphic lipoma 0
            pleural lipoma 0
            skin lipoma 0
            spindle cell lipoma 0
            tendon sheath lipoma 0
            thymus lipoma 0
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1357
                  Muscle Tissue Neoplasms 188
                    musculoskeletal system benign neoplasm 131
                      connective tissue benign neoplasm 80
                        lipoma 10
                          CLOVES syndrome 3
                          Lipoblastoma 1
                          Lipoma of the Conjunctiva 0
                          Lipomatous Hemangiopericytoma 0
                          Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
                          Nasopalpebral Lipoma Coloboma Syndrome 1
                          angiolipoma + 0
                          axillary lipoma 0
                          breast lipoma 0
                          central nervous system lipoma + 1
                          chest wall lipoma 0
                          chondroid lipoma 0
                          conventional lipoma 0
                          endobronchial lipoma 0
                          esophageal lipoma 0
                          external ear lipoma 0
                          extrahepatic bile duct lipoma 0
                          familial multiple lipomatosis 0
                          gallbladder lipoma 0
                          heart lipoma + 0
                          infiltrating lipoma 0
                          internal auditory canal lipoma 0
                          kidney lipoma 0
                          large intestine lipoma + 0
                          lipoadenoma 0
                          liver lipoma 0
                          lumbosacral lipoma 0
                          paratesticular lipoma + 0
                          pleomorphic lipoma 0
                          pleural lipoma 0
                          skin lipoma 0
                          spindle cell lipoma 0
                          tendon sheath lipoma 0
                          thymus lipoma 0
paths to the root