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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   lipedema
  

Disease ID 882
Disease lipedema
Definition
Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of SUBCUTANEOUS FAT often in obese women. It is associated with HEMATOMA, pain and may progress to secondary LYMPHEDEMA which is known as lipolymphedema.
Synonym
lipedema (disorder)
lipedema [disease/finding]
lipedemas
lipoedema
lipoedemas
Orphanet
OMIM
UMLS
C0398370
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0024236  |  lymphoedema  |  1
C0024236  |  lymphedema  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 882
Disease lipedema
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:2)
HP:0010741  |  Edema of the lower limbs
HP:0009125  |  Lipodystrophy
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:5)
HP:0001004  |  Lymphatic obstruction  |  3
HP:0000969  |  Dropsy  |  1
HP:0012531  |  Pain  |  1
HP:0001012  |  Multiple lipomas  |  1
HP:0001513  |  Obesity  |  1
Disease ID 882
Disease lipedema
Manually Symptom
UMLS  | Name(Total Manually Symptoms:4)
C1508749  |  capillary fragility
C1167699  |  lymphostasis
C0042373  |  vascular diseases
C0002940  |  aneurysms
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:0010741Edema of the lower limbsMP:0009657failure of chorioallantoic fusionfailure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
Mapped by homologous gene(Total Items:2)
HP ID HP Name MP ID MP Name Annotation
HP:0010741Edema of the lower limbsMP:0013258abnormal extracellular matrix morphologyany structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell
HP:0009125LipodystrophyMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
Disease ID 882
Disease lipedema
Case(Waiting for update.)