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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   lipoma
  

Disease ID 704
Disease lipoma
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.
Synonym
[m]lipoma nos
[m]lipoma nos (morphologic abnormality)
fatty tumor
fatty tumors
lipoma (clinical)
lipoma (disorder)
lipoma [disease/finding]
lipoma nos
lipoma nos (disorder)
lipoma of unspecified body site
lipoma, benign
lipoma, no icd-o subtype
lipoma, no icd-o subtype (morphologic abnormality)
lipoma, no international classification of diseases for oncology subtype
lipoma, no international classification of diseases for oncology subtype (morphologic abnormality)
lipoma, nos
lipoma, unspecified site
lipomas
lipomata
lipomatas
tumor, fatty
tumors, fatty
OMIM
DOID
UMLS
C0023798
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:62)
C0021933  |  intussusception  |  13
C0080178  |  spinal dysraphism  |  5
C0080178  |  spina bifida  |  4
C0023827  |  liposarcoma  |  3
C0023827  |  liposarcomas  |  2
C0023798  |  lipoma  |  2
C0039144  |  syringomyelia  |  2
C0029408  |  osteoarthritis  |  2
C0023801  |  lipomatosis  |  2
C0027662  |  multiple endocrine neoplasia  |  2
C0014544  |  epilepsy  |  2
C0003864  |  arthritis  |  2
C0017075  |  ganglioneuroma  |  1
C0021843  |  intestinal obstruction  |  1
C0024115  |  lung disease  |  1
C0917996  |  cerebral aneurysm  |  1
C0017168  |  gastroesophageal reflux  |  1
C0206634  |  myxoid liposarcoma  |  1
C0023434  |  chronic lymphatic leukemia  |  1
C0019202  |  wilson disease  |  1
C0040961  |  tricuspid regurgitation  |  1
C0023801  |  madelung's disease  |  1
C0023798  |  lipomas  |  1
C0018553  |  cowden's syndrome  |  1
C0028754  |  obesity  |  1
C0018552  |  hamartomas  |  1
C0020492  |  hyperostosis  |  1
C0206632  |  angiolipoma  |  1
C0018553  |  cowden syndrome  |  1
C0023418  |  leukemia  |  1
C0016034  |  fibrocystic disease of the breast  |  1
C0014544  |  epileptic seizures  |  1
C0025299  |  meningocele  |  1
C0010068  |  coronary artery disease  |  1
C0017168  |  oesophageal reflux  |  1
C0025267  |  multiple endocrine neoplasia type 1  |  1
C0017168  |  esophageal reflux  |  1
C0003872  |  psoriatic arthritis  |  1
C0042961  |  volvulus  |  1
C0016522  |  patent foramen ovale  |  1
C0149756  |  plantar fasciitis  |  1
C1096063  |  intractable epilepsy  |  1
C0017525  |  giant cell tumour  |  1
C0023801  |  madelung disease  |  1
C0700594  |  radiculopathy  |  1
C0032357  |  poland syndrome  |  1
C0021933  |  intestinal intussusception  |  1
C0036202  |  sarcoidosis  |  1
C0007570  |  celiac disease  |  1
C0041327  |  pulmonary tuberculosis  |  1
C0010674  |  fibrocystic disease  |  1
C0011649  |  dermoid  |  1
C0029408  |  degenerative arthritis  |  1
C0041296  |  tuberculosis  |  1
C0023448  |  lymphatic leukemia  |  1
C0007286  |  carpal tunnel syndrome  |  1
C0014544  |  epileptic seizure  |  1
C0020443  |  hypercholesterolemia  |  1
C1318558  |  congenital melanocytic nevus  |  1
C0040997  |  trigeminal neuralgia  |  1
C0085693  |  acute appendicitis  |  1
C0007129  |  merkel cell carcinoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
5728  |  PTEN  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:79)
257  |  ALX3  |  4.095  |  DISEASES
262  |  AMD1  |  1.549  |  DISEASES
722  |  C4BPA  |  1.476  |  DISEASES
800  |  CALD1  |  1.99  |  DISEASES
910  |  CD1B  |  1.254  |  DISEASES
1029  |  CDKN2A  |  2.518  |  DISEASES
203611  |  CDY2B  |  2.428  |  DISEASES
1180  |  CLCN1  |  1.305  |  DISEASES
387836  |  CLEC2A  |  1.038  |  DISEASES
79827  |  CLMP  |  1.724  |  DISEASES
116840  |  CNTROB  |  3.07  |  DISEASES
1368  |  CPM  |  1.96  |  DISEASES
64764  |  CREB3L2  |  4.609  |  DISEASES
57703  |  CWC22  |  1.143  |  DISEASES
192668  |  CYS1  |  1.441  |  DISEASES
64421  |  DCLRE1C  |  1.37  |  DISEASES
1649  |  DDIT3  |  2.878  |  DISEASES
8445  |  DYRK2  |  1.935  |  DISEASES
2205  |  FCER1A  |  1.173  |  DISEASES
2260  |  FGFR1  |  3.237  |  DISEASES
2308  |  FOXO1  |  2.256  |  DISEASES
3039  |  HBA1  |  2.013  |  DISEASES
3052  |  HCCS  |  1.253  |  DISEASES
8091  |  HMGA2  |  5.483  |  DISEASES
5654  |  HTRA1  |  1.788  |  DISEASES
3481  |  IGF2  |  2.176  |  DISEASES
102723508  |  KANTR  |  2.494  |  DISEASES
9851  |  KIAA0753  |  1.508  |  DISEASES
10186  |  LHFP  |  4.293  |  DISEASES
116135  |  LRRC3B  |  2.315  |  DISEASES
4052  |  LTBP1  |  1.712  |  DISEASES
116372  |  LYPD1  |  1.99  |  DISEASES
90550  |  MCU  |  1.189  |  DISEASES
4193  |  MDM2  |  5.413  |  DISEASES
219541  |  MED19  |  1.68  |  DISEASES
4221  |  MEN1  |  3.643  |  DISEASES
196410  |  METTL7B  |  1.874  |  DISEASES
57496  |  MKL2  |  3.683  |  DISEASES
2315  |  MLANA  |  2.16  |  DISEASES
4311  |  MME  |  2.035  |  DISEASES
22921  |  MSRB2  |  2.204  |  DISEASES
253827  |  MSRB3  |  2.49  |  DISEASES
4566  |  MT-TK  |  3.394  |  DISEASES
4763  |  NF1  |  2.139  |  DISEASES
4781  |  NFIB  |  3.569  |  DISEASES
93034  |  NT5C1B  |  1.828  |  DISEASES
27445  |  PCLO  |  1.194  |  DISEASES
5303  |  PIN4  |  2.052  |  DISEASES
5324  |  PLAG1  |  4.393  |  DISEASES
64840  |  PORCN  |  1.53  |  DISEASES
5499  |  PPP1CA  |  2.563  |  DISEASES
5501  |  PPP1CC  |  2.7  |  DISEASES
5515  |  PPP2CA  |  2.268  |  DISEASES
10196  |  PRMT3  |  2.438  |  DISEASES
5627  |  PROS1  |  2.099  |  DISEASES
5728  |  PTEN  |  2.713  |  DISEASES
5745  |  PTH1R  |  2.198  |  DISEASES
5890  |  RAD51B  |  1.342  |  DISEASES
64783  |  RBM15  |  1.558  |  DISEASES
1102  |  RCBTB2  |  2.317  |  DISEASES
6164  |  RPL34  |  1.707  |  DISEASES
113675  |  SDSL  |  1.296  |  DISEASES
64218  |  SEMA4A  |  1.895  |  DISEASES
23583  |  SMUG1  |  1.294  |  DISEASES
6622  |  SNCA  |  1.459  |  DISEASES
94161  |  SNORD46  |  1.936  |  DISEASES
26774  |  SNORD80  |  2.498  |  DISEASES
10927  |  SPIN1  |  2.233  |  DISEASES
55342  |  STRBP  |  2.546  |  DISEASES
6949  |  TCOF1  |  2.099  |  DISEASES
285386  |  TPRG1  |  4.169  |  DISEASES
7321  |  UBE2D1  |  1.794  |  DISEASES
139596  |  UPRT  |  1.509  |  DISEASES
389136  |  VGLL3  |  2.662  |  DISEASES
51741  |  WWOX  |  1.002  |  DISEASES
81030  |  ZBP1  |  2.545  |  DISEASES
9278  |  ZBTB22  |  1.046  |  DISEASES
57683  |  ZDBF2  |  3.477  |  DISEASES
7791  |  ZYX  |  1.615  |  DISEASES
Locus(Waiting for update.)
Disease ID 704
Disease lipoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:61)
HP:0002576  |  Intussusception  |  14
HP:0002664  |  Neoplasia  |  10
HP:0010301  |  Spinal dysraphism  |  6
HP:0002144  |  Occult spinal dysraphism  |  5
HP:0001274  |  Absent corpus callosum  |  4
HP:0002584  |  Intestinal hemorrhage  |  4
HP:0002239  |  Gastrointestinal hemorrhage  |  4
HP:0002414  |  Spina bifida  |  4
HP:0012034  |  Liposarcoma  |  3
HP:0001250  |  Seizures  |  3
HP:0001369  |  Arthritis  |  2
HP:0002758  |  Osteoarthritis  |  2
HP:0012531  |  Pain  |  2
HP:0001031  |  Subcutaneous lipoma  |  2
HP:0100661  |  Trigeminal neuralgia  |  2
HP:0100568  |  Endocrine neoplasia  |  2
HP:0002027  |  Abdominal pain  |  2
HP:0012032  |  Lipoma  |  2
HP:0003396  |  Syringomyelia  |  2
HP:0002608  |  Celiac disease  |  1
HP:0001289  |  Confusion  |  1
HP:0001028  |  Strawberry mark  |  1
HP:0001513  |  Obesity  |  1
HP:0012268  |  Myxoid liposarcoma  |  1
HP:0005180  |  Tricuspid insufficiency  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0002825  |  Coccygeal tail  |  1
HP:0002539  |  Cortical dysplasia  |  1
HP:0030871  |  Facet joint arthrosis  |  1
HP:0003418  |  Back pain  |  1
HP:0002020  |  Heartburn  |  1
HP:0030274  |  Extra scrotum  |  1
HP:0002282  |  Heterotopias  |  1
HP:0001655  |  Patent foramen ovale  |  1
HP:0100774  |  Hyperostosis  |  1
HP:0002781  |  Upper airway obstruction  |  1
HP:0000969  |  Dropsy  |  1
HP:0001677  |  Coronary artery disease  |  1
HP:0100600  |  Prepenile scrotum  |  1
HP:0004944  |  Cerebral artery aneurysm  |  1
HP:0000995  |  Beauty mark  |  1
HP:0002573  |  Bloody diarrhea  |  1
HP:0002435  |  Meningocele  |  1
HP:0100565  |  Hydromyelia  |  1
HP:0100523  |  Hepatic abscess  |  1
HP:0100790  |  Hernia  |  1
HP:0003077  |  Hyperlipidemia  |  1
HP:0006989  |  Dysplastic corpus callosum  |  1
HP:0000078  |  Genital abnormalities  |  1
HP:0003124  |  Elevated serum cholesterol  |  1
HP:0001636  |  Tetrology of fallot  |  1
HP:0002580  |  Volvulus  |  1
HP:0011675  |  Arrhythmias  |  1
HP:0005214  |  Bowel obstruction  |  1
HP:0030710  |  Lipomeningocele  |  1
HP:0003005  |  Ganglioneuroma  |  1
HP:0002094  |  Dyspnea  |  1
HP:0005550  |  Chronic lymphatic leukemia  |  1
HP:0004756  |  Ventricular tachycardia  |  1
HP:0009730  |  Rhabdomyoma  |  1
HP:0001909  |  Leukemia  |  1
Disease ID 704
Disease lipoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:13)
C2585575  |  recurrent abdominal pains
C2127111  |  fluctuating hearing loss
C2112237  |  posterior interosseous nerve palsy
C1532393  |  nuchal-type fibroma
C1412297  |  aicardi syndrome
C0267467  |  colonic intussusception
C0267373  |  intestinal bleeding
C0235031  |  neurological symptoms
C0205824  |  dedifferentiated liposarcoma
C0158026  |  monoarthritis
C0031038  |  pericardial cyst
C0026266  |  mitral incompetence
C0021933  |  intussusception
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:6)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121913529259283473845KRASumls:C0023798BeFreeWe conclude that KENS, the intraneural Schwann cell proliferation and the lipoma in this individual were caused by a postzygotic and mosaic activating c.35G > A (p.Gly12Asp) KRAS mutation.0.0002714422015KRAS1225245350CT,G,A
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 704
Disease lipoma
Case(Waiting for update.)