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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   rosai-dorfman disease
  

Disease ID 1240
Disease rosai-dorfman disease
Definition
Benign, non-Langerhans-cell, histiocytic proliferative disorder that primarily affects the lymph nodes. It is often referred to as sinus histiocytosis with massive lymphadenopathy.
Synonym
destombes rosai dorfman syndrome
destombes-rosai-dorfman syndrome
disease rosai-dorfman
disease, rosai-dorfman
histiocytoses, sinus
histiocytosis sinus
histiocytosis, sinus
histiocytosis, sinus [disease/finding]
rosai dorfman dis
rosai dorfman disease
rosai-dorman disease
sinus histiocytoses
sinus histiocytosis
sinus histiocytosis (morphologic abnormality)
sinus histiocytosis with massive lymphadenopathy
sinus histiocytosis with massive lymphadenopathy (disorder)
syndrome, destombes-rosai-dorfman
Orphanet
UMLS
C0019625
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:14)
C0019618  |  histiocytosis  |  36
C0079744  |  diffuse large b-cell lymphoma  |  2
C0079731  |  b-cell lymphoma  |  2
C0018916  |  hemangioma  |  1
C0023281  |  leishmaniasis  |  1
C0026986  |  myelodysplastic syndrome  |  1
C0011854  |  insulin dependent diabetes  |  1
C0024299  |  lymphoma  |  1
C0011854  |  insulin dependent diabetes mellitus  |  1
C0019204  |  hepatocellular carcinoma  |  1
C0023290  |  visceral leishmaniasis  |  1
C0007758  |  cerebellar ataxia  |  1
C0035468  |  rhinoscleroma  |  1
C0024291  |  hemophagocytic lymphohistiocytosis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
55315  |  SLC29A3  |  CTD_human;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1240
Disease rosai-dorfman disease
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:13)
HP:0002716  |  Lymph node hyperplasia  |  106
HP:0100727  |  Histiocytosis  |  40
HP:0012191  |  B-cell lymphoma  |  2
HP:0002665  |  Lymphoma  |  1
HP:0001028  |  Strawberry mark  |  1
HP:0002176  |  Spinal cord compression  |  1
HP:0002835  |  Aspiration  |  1
HP:0002863  |  Myelodysplastic syndrome  |  1
HP:0001251  |  Ataxia  |  1
HP:0001402  |  Hepatocellular carcinoma  |  1
HP:0008940  |  Generalized lymphadenopathy  |  1
HP:0003281  |  Increased ferritin  |  1
HP:0005306  |  Capillary hemangioma  |  1
Disease ID 1240
Disease rosai-dorfman disease
Manually Symptom
UMLS  | Name(Total Manually Symptoms:6)
C0158242  |  cervical spinal cord compression
C0029185  |  orbital tumor
C0022660  |  acute renal failure
C0019825  |  hoarseness
C0015970  |  fever of unknown origin (fuo)
C0015300  |  proptosis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0024228  |  lymphadenopathy  |  105
C0024228  |  adenopathy  |  1
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:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1240
Disease rosai-dorfman disease
Case(Waiting for update.)