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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: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 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:25741868 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: CLOVE SYNDROME
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: 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:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23888070 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
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 adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta IAGP RGD PMID:11509115 RGD:1302456 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286 		JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP RGD PMID:11509115 RGD:1302456
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 16092
    disease of cellular proliferation 5895
      benign neoplasm 903
        cell type benign neoplasm 726
          lipoma 13
            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 + 6
            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 16092
    disease of cellular proliferation 5895
      Neoplasms by Histologic Type 3696
        Connective and Soft Tissue Neoplasms 1514
          Adipose Tissue Neoplasms 25
            lipoma 13
              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 + 6
              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