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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   lymphangiectasis
  

Disease ID 1680
Disease lymphangiectasis
Definition
A transient dilatation of the lymphatic vessels.
Synonym
lymphangiectases
lymphangiectases (disorder)
lymphangiectasia
lymphangiectasia, nos
lymphangiectasias
lymphangiectasis (morphologic abnormality)
lymphangiectasis [disease/finding]
lymphangiectasis, nos
DOID
UMLS
C0024214
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:18)
C0033680  |  protein-losing enteropathy  |  2
C1145670  |  respiratory failure  |  2
C0023418  |  leukemia  |  1
C0023473  |  chronic myeloid leukemia  |  1
C0007642  |  cellulitis  |  1
C0024221  |  lymphangioma  |  1
C0017668  |  focal segmental glomerulosclerosis  |  1
C0023470  |  myeloid leukemia  |  1
C0026848  |  myopathy  |  1
C0040053  |  thrombosis  |  1
C0024236  |  lymphedema  |  1
C0010346  |  crohn's disease  |  1
C0019621  |  histiocytosis x  |  1
C0021831  |  enteropathy  |  1
C0206157  |  nemaline myopathy  |  1
C0019618  |  histiocytosis  |  1
C0020538  |  hypertension  |  1
C0042961  |  volvulus  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1680
Disease lymphangiectasis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:25)
HP:0001004  |  Lymphatic obstruction  |  3
HP:0010310  |  Chylothorax  |  2
HP:0002243  |  Protein-losing enteropathy  |  2
HP:0003075  |  Hypoproteinemia  |  2
HP:0002878  |  Respiratory failure  |  2
HP:0100764  |  Lymphangioma  |  2
HP:0002242  |  Enteropathy  |  1
HP:0003198  |  Myopathic changes  |  1
HP:0002580  |  Volvulus  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0012324  |  Myeloid leukemia  |  1
HP:0001909  |  Leukemia  |  1
HP:0005506  |  Chronic myeloid leukemia  |  1
HP:0002664  |  Neoplasia  |  1
HP:0006521  |  Pulmonary lymphangiectasis  |  1
HP:0000969  |  Dropsy  |  1
HP:0000097  |  focal glomerulosclerosis  |  1
HP:0001217  |  Digital clubbing  |  1
HP:0100658  |  Bacterial infection of skin  |  1
HP:0002732  |  Lymph node hypoplasia  |  1
HP:0100727  |  Histiocytosis  |  1
HP:0002202  |  Pleural effusion  |  1
HP:0000674  |  Anodontia  |  1
HP:0000822  |  Hypertension  |  1
HP:0002566  |  Intestinal malrotation  |  1
Disease ID 1680
Disease lymphangiectasis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C1962974  |  chylothorax
C0341306  |  intractable diarrhea of infancy
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
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
rs3730271233917225894RAF1umls:C0024214BeFreeExcessive production of lymphatic ECs resulted in lymphangiectasia that was highly reminiscent of abnormal lymphatics seen in Noonan syndrome and similar RASopathies. Inhibition of ERK signaling during development abrogated the lymphatic differentiation program and rescued the lymphatic phenotypes induced by expression of RAF1(S259A).0.0002714422013RAF1312604195AT,G
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 1680
Disease lymphangiectasis
Case(Waiting for update.)