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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 benign tumor composed of fat cells (ADIPOCYTES). It can be surrounded by a thin layer of connective tissue (encapsulated), or diffuse without the capsule.
Synonyms:exact_synonym: Atypical Lipoma;   Fatty Tumor;   Fatty Tumors;   Hibernoma;   Hibernomas;   LIPOMATOSIS, FAMILIAL MULTIPLE;   Lipomas;   Lipomata;   Lipomatas;   Lipomatous neoplasm;   atypical lipomas;   benign lipomatous tumor;   benign tumor of Adipose tissue;   lipomatous tumor;   tumor of adipose tissue
 narrow_synonym: Lipoma, somatic
 primary_id: MESH:D008067
 alt_id: RDO:0001585
 xref: ICD10CM:D17;   ICD10CM:D17.9;   ICD9CM:214;   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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO RGD PMID:7606786 RGD:1601567 NCBI chr 7:65,159,944...65,275,408
Ensembl chr 7:65,159,944...65,275,408
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Lipoma, somatic ClinVar PMID:9103196, PMID:9215690, PMID:9498491, PMID:10856877, PMID:15635078, PMID:17623761, PMID:17879353, PMID:20833329, PMID:23093699, PMID:24033266, PMID:24599222, PMID:24915123, PMID:25309785, PMID:28492532 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
ClinVar Annotator: match by term: CLOVE SYNDROME
ClinVar Annotator: match by term: CLOVES SYNDROME
DNA: missense mutations: exon :p.H1047R, p.H1047L
OMIM
ClinVar
PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22357840, PMID:22658544, PMID:22729222, PMID:22729224, PMID:23066039, PMID:23100325, PMID:24033266, PMID:24559322, PMID:24782230, PMID:25157968, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26619011, PMID:26822237, PMID:26851524, PMID:27626068, PMID:27631024, PMID:28492532, PMID:29446767, PMID:31775759, PMID:22729222 RGD:13207409 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
kidney angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase treatment ISO associated with Tuberous Sclerosis RGD PMID:23054313 RGD:7245506 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Renal angiomyolipoma ClinVar PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
Lipoblastoma term browser
Symbol Object Name Qualifiers 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 5:16,788,186...16,842,827
Ensembl chr 5:16,791,523...16,799,776
JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers 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 9:70,052,088...70,090,847
Ensembl chr 9:70,059,683...70,089,778
JBrowse link
renal oncocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12204536 NCBI chr10:46,153,185...46,172,331
Ensembl chr10:46,153,188...46,172,309
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of cellular proliferation 5917
      benign neoplasm 962
        cell type benign neoplasm 784
          lipoma 12
            CLOVES syndrome 1
            Familial Multiple Lipomatosis 0
            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 + 0
            chest wall lipoma 0
            chondroid lipoma 0
            classic type lipoma 0
            endobronchial lipoma 0
            esophageal lipoma 0
            external auditory meatus lipoma 0
            extrahepatic bile duct lipoma 0
            gallbladder lipoma 0
            heart lipoma + 0
            infiltrating lipoma 0
            internal auditory canal lipoma 0
            kidney benign neoplasm + 5
            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 16045
    disease of cellular proliferation 5917
      Neoplasms by Histologic Type 3728
        Connective and Soft Tissue Neoplasms 1510
          Adipose Tissue Neoplasms 23
            lipoma 12
              CLOVES syndrome 1
              Familial Multiple Lipomatosis 0
              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 + 0
              chest wall lipoma 0
              chondroid lipoma 0
              classic type lipoma 0
              endobronchial lipoma 0
              esophageal lipoma 0
              external auditory meatus lipoma 0
              extrahepatic bile duct lipoma 0
              gallbladder lipoma 0
              heart lipoma + 0
              infiltrating lipoma 0
              internal auditory canal lipoma 0
              kidney benign neoplasm + 5
              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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.