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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.


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lipoma term browser
Symbol Object Name 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 chr16:6,446,709...6,455,535
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 7:55,877,145...55,998,813
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 1:203,638,905...203,644,871
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 1:230,631,303...230,696,754
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: CLOVE SYNDROME ClinVar PMID:25741868 PMID:27476652 NCBI chr 7:8,163,752...8,177,636
Ensembl chr 7:8,162,750...8,179,812
JBrowse link
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, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
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 More... RGD:13207409 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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: Lipoma of corpus callosum ClinVar PMID:25741868 NCBI chr 8:46,202,079...46,224,699
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 5:16,902,057...16,956,727
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 9:64,672,974...64,748,446
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 17205
    disease of cellular proliferation 7034
      benign neoplasm 1936
        cell type benign neoplasm 1749
          lipoma 9
            CLOVES syndrome 2
            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 + 1
            chest wall lipoma 0
            chondroid lipoma 0
            conventional 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 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 17205
    disease of cellular proliferation 7034
      Neoplasms by Histologic Type 4765
        Connective and Soft Tissue Neoplasms 1720
          Adipose Tissue Neoplasms 22
            lipoma 9
              CLOVES syndrome 2
              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 + 1
              chest wall lipoma 0
              chondroid lipoma 0
              conventional 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 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