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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   well-differentiated liposarcoma
  

Disease ID 1450
Disease well-differentiated liposarcoma
Definition
A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.
Synonym
liposarcoma - differentiated
liposarcoma - well differentiated
liposarcoma, differentiated
liposarcoma, well differentiated
liposarcoma, well differentiated (morphologic abnormality)
well differentiated liposarcoma of deep soft tissue
Orphanet
DOID
UMLS
C1370889
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:6)
C0023827  |  liposarcomas  |  2
C0023827  |  liposarcoma  |  2
C0206644  |  fibrous histiocytoma  |  1
C0334463  |  malignant fibrous histiocytoma  |  1
C1509147  |  histiocytoma  |  1
C0023798  |  lipoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
8091  |  HMGA2  |  ORPHANET
1019  |  CDK4  |  ORPHANET
4193  |  MDM2  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:3)
MDM2  |  12q15
CDK4  |  12q14.1
HMGA2  |  12q14.3
Disease ID 1450
Disease well-differentiated liposarcoma
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:3)
HP:0012211  |  Abnormal renal physiology
HP:0001482  |  Subcutaneous nodule
HP:0002579  |  Gastrointestinal dysmotility
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:5)
HP:0002664  |  Neoplasia  |  2
HP:0012034  |  Liposarcoma  |  2
HP:0012032  |  Lipoma  |  1
HP:0012315  |  Histiocytoma  |  1
HP:0001289  |  Confusion  |  1
Disease ID 1450
Disease well-differentiated liposarcoma
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0012211Abnormal renal physiologyMP:0011682renal glomerulus cystsabnormal membranous sacs in any portion of the renal glomerulus
Mapped by homologous gene(Total Items:3)
HP ID HP Name MP ID MP Name Annotation
HP:0012211Abnormal renal physiologyMP:0014074increased brain glycogen levelgreater than the normal concentration of a readily converted carbohydrate reserve in brain
HP:0002579Gastrointestinal dysmotilityMP:0013659abnormal erythroid lineage cell morphologyany structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0001482Subcutaneous noduleMP:0013542abnormal submandibular gland branching morphogenesis
Disease ID 1450
Disease well-differentiated liposarcoma
Case(Waiting for update.)