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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   graft versus host disease
  

Disease ID 556
Disease graft versus host disease
Definition
The clinical entity characterized by anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the GRAFT VS HOST REACTION.
Synonym
autoimmune foreign transplant disease
disease graft host versus
disease graft host vs
disease graft versus host
disease, graft-versus-host
disease, graft-vs-host
disease, homologous wasting
disease, runt
diseases, graft-versus-host
diseases, graft-vs-host
graft versus host dis
graft versus host disease (disorder)
graft versus host disease [ambiguous]
graft versus host disease, nos
graft vs host dis
graft vs host disease
graft vs host disease [disease/finding]
graft vs. host disease
graft-versus-host disease
graft-versus-host disease (disorder)
graft-versus-host disease, unspecified
graft-versus-host diseases
graft-versus-host nos
graft-versus-host-disease
graft-vs-host disease
graft-vs-host diseases
gvh
gvh disease
gvhd
gvhd - graft-versus-host disease
homol wasting dis
homologous wasting disease
host versus graft disease
host vs graft disease
runt dis
runt disease
runting syndrome
Orphanet
ICD10
UMLS
C0018133
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:118)
C0023418  |  leukemia  |  11
C0314719  |  dry eye  |  9
C0011991  |  diarrhea  |  6
C0026946  |  fungal infection  |  5
C0026946  |  fungal infections  |  4
C0026764  |  myeloma  |  4
C0026764  |  multiple myeloma  |  4
C0376545  |  hematological malignancies  |  4
C0026986  |  myelodysplastic syndrome  |  4
C0085669  |  acute leukemia  |  4
C0022658  |  nephropathy  |  3
C0013238  |  dry eye syndrome  |  3
C0155765  |  microangiopathy  |  3
C0015625  |  fanconi anemia  |  3
C0002871  |  anemia  |  3
C0042769  |  viral infection  |  3
C0032285  |  pneumonia  |  3
C0011991  |  diarrhoea  |  3
C0006272  |  bronchiolitis obliterans  |  3
C0020443  |  hypercholesterolemia  |  2
C0152025  |  polyneuropathy  |  2
C0015230  |  exanthema  |  2
C0023418  |  leukaemia  |  2
C0042769  |  viral infections  |  2
C0558353  |  tongue carcinoma  |  2
C0023890  |  cirrhosis  |  2
C0024523  |  malabsorption  |  2
C0023470  |  myeloid leukemia  |  2
C0002874  |  aplastic anemia  |  2
C0006271  |  bronchiolitis  |  2
C0030312  |  pancytopenia  |  2
C0015230  |  rash  |  2
C0023467  |  acute myeloid leukemia  |  2
C1145670  |  respiratory failure  |  2
C0011644  |  scleroderma  |  2
C0017665  |  membranous nephropathy  |  2
C0042769  |  virus infection  |  1
C0008312  |  primary biliary cirrhosis  |  1
C0030804  |  mucous membrane pemphigoid  |  1
C0002874  |  aplastic anaemia  |  1
C0085669  |  acute leukemias  |  1
C0014527  |  epidermolysis bullosa  |  1
C0026986  |  myelodysplastic syndromes  |  1
C0010930  |  dacryocystitis  |  1
C0376545  |  hematologic malignancies  |  1
C0017160  |  gastroenteritis  |  1
C0022575  |  keratoconjunctivitis sicca  |  1
C0004030  |  aspergillosis  |  1
C0019069  |  hemophilia  |  1
C0023434  |  chronic lymphocytic leukemia  |  1
C0024314  |  lymphoproliferative disorder  |  1
C0024115  |  lung disease  |  1
C0023448  |  lymphocytic leukemia  |  1
C0007134  |  renal cell carcinoma  |  1
C0034150  |  purpura  |  1
C1527407  |  eosinophilic pneumonia  |  1
C0011334  |  dental caries  |  1
C0024523  |  malabsorption syndrome  |  1
C0008370  |  cholestasis  |  1
C0020538  |  hypertension  |  1
C0030805  |  pemphigoid  |  1
C0085110  |  severe combined immunodefic  |  1
C0023418  |  leukemias  |  1
C0021843  |  bowel obstruction  |  1
C1258215  |  ileus  |  1
C0007177  |  cardiac tamponade  |  1
C0031046  |  pericarditis  |  1
C0015397  |  eye disease  |  1
C0030305  |  pancreatitis  |  1
C0043541  |  zygomycosis  |  1
C0085110  |  severe combined immunodeficiency  |  1
C0002438  |  amoebiasis  |  1
C0007137  |  squamous cell carcinoma  |  1
C0346054  |  verruciform xanthoma  |  1
C0009319  |  colitis  |  1
C0011334  |  caries  |  1
C0086543  |  cataract  |  1
C0023470  |  myeloid leukaemia  |  1
C0031048  |  constrictive pericarditis  |  1
C0026946  |  fungal disease  |  1
C0376545  |  hematologic cancer  |  1
C0151546  |  carcinoma of the oral cavity  |  1
C0021053  |  immune disease  |  1
C0023467  |  acute myeloid leukaemia  |  1
C1955861  |  t-cell large granular lymphocyte leukemia  |  1
C0027726  |  nephrotic syndrome  |  1
C0041351  |  tularemia  |  1
C0040100  |  thymoma  |  1
C0013418  |  abnormal labor  |  1
C0004623  |  bacterial infection  |  1
C0162855  |  mucinosis  |  1
C0442874  |  neuropathy  |  1
C0085669  |  acute leukaemia  |  1
C0024314  |  lymphoproliferative disorders  |  1
C0026764  |  plasma cell myeloma  |  1
C0270922  |  demyelinating polyneuropathy  |  1
C0878544  |  cardiomyopathy  |  1
C0155237  |  acute dacryocystitis  |  1
C0033680  |  protein losing enteropathy  |  1
C1568868  |  oral mucositis  |  1
C0002170  |  alopecia  |  1
C0600260  |  obstructive lung disease  |  1
C0008312  |  biliary cirrhosis  |  1
C0002171  |  alopecia areata  |  1
C0031117  |  peripheral neuropathy  |  1
C0035305  |  retinal detachment  |  1
C0037199  |  sinusitis  |  1
C0024523  |  malabsorption syndromes  |  1
C0013370  |  intestinal amoebiasis  |  1
C0242770  |  bronchiolitis obliterans organizing pneumonia  |  1
C0032285  |  pneumonitis  |  1
C0032326  |  pneumothorax  |  1
C0022573  |  keratoconjunctivitis  |  1
C0013182  |  drug hypersensitivity  |  1
C0085655  |  polymyositis  |  1
C0023646  |  lichen planus  |  1
C0020541  |  portal hypertension  |  1
C0162429  |  malnutrition  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
4524  |  MTHFR  |  CTD_human
3458  |  IFNG  |  CTD_human
1493  |  CTLA4  |  CTD_human
3605  |  IL17A  |  CTD_human
7367  |  UGT2B17  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:101)
1234  |  CCR5  |  CIPHER
1493  |  CTLA4  |  CIPHER;CTD_human
2212  |  FCGR2A  |  CIPHER
3458  |  IFNG  |  CIPHER;CTD_human
3586  |  IL10  |  CIPHER
3552  |  IL1A  |  CIPHER
3553  |  IL1B  |  CIPHER
3557  |  IL1RN  |  CIPHER
3565  |  IL4  |  CIPHER
3569  |  IL6  |  CIPHER
3802  |  KIR2DL1  |  CIPHER
3803  |  KIR2DL2  |  CIPHER
3804  |  KIR2DL3  |  CIPHER
3805  |  KIR2DL4  |  CIPHER
3806  |  KIR2DS1  |  CIPHER
3808  |  KIR2DS3  |  CIPHER
3810  |  KIR2DS5  |  CIPHER
3811  |  KIR3DL1  |  CIPHER
3812  |  KIR3DL2  |  CIPHER
7040  |  TGFB1  |  CIPHER
7124  |  TNF  |  CIPHER
11214  |  AKAP13  |  CIPHER
328  |  APEX1  |  CIPHER
597  |  BCL2A1  |  CIPHER
6347  |  CCL2  |  CIPHER
6352  |  CCL5  |  CIPHER
2237  |  FEN1  |  CIPHER
3105  |  HLA-A  |  CIPHER
3106  |  HLA-B  |  CIPHER
3107  |  HLA-C  |  CIPHER
3115  |  HLA-DPB1  |  CIPHER
3117  |  HLA-DQA1  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
3133  |  HLA-E  |  CIPHER
57824  |  HMHB1  |  CIPHER
3439  |  IFNA1  |  CIPHER
3588  |  IL10RB  |  CIPHER
149233  |  IL23R  |  CIPHER
3813  |  KIR3DS1  |  CIPHER
3938  |  LCT  |  CIPHER
3978  |  LIG1  |  CIPHER
3980  |  LIG3  |  CIPHER
4049  |  LTA  |  CIPHER
8174  |  MADCAM1  |  CIPHER
8930  |  MBD4  |  CIPHER
4350  |  MPG  |  CIPHER
4524  |  MTHFR  |  CIPHER;CTD_human
4595  |  MUTYH  |  CIPHER
64005  |  MYO1G  |  CIPHER
64127  |  NOD2  |  CIPHER
4913  |  NTHL1  |  CIPHER
4968  |  OGG1  |  CIPHER
142  |  PARP1  |  CIPHER
5111  |  PCNA  |  CIPHER
5175  |  PECAM1  |  CIPHER
11284  |  PNKP  |  CIPHER
5423  |  POLB  |  CIPHER
5424  |  POLD1  |  CIPHER
5425  |  POLD2  |  CIPHER
5426  |  POLE  |  CIPHER
11201  |  POLI  |  CIPHER
5981  |  RFC1  |  CIPHER
5982  |  RFC2  |  CIPHER
5983  |  RFC3  |  CIPHER
5984  |  RFC4  |  CIPHER
5985  |  RFC5  |  CIPHER
4088  |  SMAD3  |  CIPHER
23583  |  SMUG1  |  CIPHER
3431  |  SP110  |  CIPHER
6996  |  TDG  |  CIPHER
7132  |  TNFRSF1A  |  CIPHER
7133  |  TNFRSF1B  |  CIPHER
7367  |  UGT2B17  |  CIPHER;CTD_human
7374  |  UNG  |  CIPHER
7421  |  VDR  |  CIPHER
7515  |  XRCC1  |  CIPHER
5243  |  ABCB1  |  CIPHER
28  |  ABO  |  CIPHER
1636  |  ACE  |  CIPHER
183  |  AGT  |  CIPHER
185  |  AGTR1  |  CIPHER
186  |  AGTR2  |  CIPHER
1577  |  CYP3A5  |  CIPHER
2099  |  ESR1  |  CIPHER
2100  |  ESR2  |  CIPHER
2938  |  GSTA1  |  CIPHER
3136  |  HLA-H  |  CIPHER
3305  |  HSPA1L  |  CIPHER
3460  |  IFNGR2  |  CIPHER
3554  |  IL1R1  |  CIPHER
3558  |  IL2  |  CIPHER
3566  |  IL4R  |  CIPHER
3659  |  IRF1  |  CIPHER
4509  |  MT-ATP8  |  CIPHER
4537  |  MT-ND3  |  CIPHER
5027  |  P2RX7  |  CIPHER
7042  |  TGFB2  |  CIPHER
7099  |  TLR4  |  CIPHER
7298  |  TYMS  |  CIPHER
3605  |  IL17A  |  CTD_human
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 556
Disease graft versus host disease
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:101)
HP:0001909  |  Leukemia  |  10
HP:0002664  |  Neoplasia  |  9
HP:0002014  |  Diarrhea  |  6
HP:0030731  |  Carcinoma  |  5
HP:0001824  |  Weight loss  |  4
HP:0002863  |  Myelodysplastic syndrome  |  4
HP:0002488  |  Acute leukemias  |  4
HP:0006775  |  Multiple myeloma  |  4
HP:0001903  |  Anemia  |  3
HP:0000112  |  Nephropathy  |  3
HP:0001399  |  Liver failure  |  3
HP:0011946  |  Constrictive bronchiolitis  |  3
HP:0002090  |  Pneumonia  |  3
HP:0002878  |  Respiratory failure  |  2
HP:0012324  |  Myeloid leukemia  |  2
HP:0000988  |  Exanthem  |  2
HP:0001394  |  Hepatic cirrhosis  |  2
HP:0003124  |  Elevated serum cholesterol  |  2
HP:0000969  |  Dropsy  |  2
HP:0001880  |  Eosinophilia  |  2
HP:0011950  |  Bronchiolitis  |  2
HP:0012531  |  Pain  |  2
HP:0004808  |  Acute myelogenous leukemia  |  2
HP:0001596  |  Hair loss  |  2
HP:0012578  |  Membranous glomerulonephritis  |  2
HP:0001271  |  Polyneuropathy  |  2
HP:0100806  |  Sepsis  |  2
HP:0100324  |  Progressive systemic scleroderma  |  2
HP:0002024  |  Intestinal malabsorption  |  2
HP:0001915  |  Aplastic anemia  |  2
HP:0002107  |  Collapsed lung  |  1
HP:0001114  |  Fatty deposits on eyelids  |  1
HP:0000246  |  Sinus inflammation  |  1
HP:0000541  |  Detached retina  |  1
HP:0007468  |  Perifollicular hyperkeratosis  |  1
HP:0004395  |  Malnutrition  |  1
HP:0000822  |  Hypertension  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0002595  |  Gastrointestinal atony  |  1
HP:0001250  |  Seizures  |  1
HP:0001396  |  Cholestasis  |  1
HP:0002665  |  Lymphoma  |  1
HP:0100522  |  Thymoma  |  1
HP:0040186  |  Maculopapular exanthema  |  1
HP:0001324  |  Muscular weakness  |  1
HP:0100614  |  Muscle inflammation  |  1
HP:0001097  |  Keratoconjunctivitis sicca  |  1
HP:0002229  |  Alopecia areata  |  1
HP:0001701  |  Pericarditis  |  1
HP:0001875  |  Neutropenia  |  1
HP:0007663  |  Central visual loss  |  1
HP:0005200  |  Retroperitoneal fibrosis  |  1
HP:0006532  |  Pneumonia, recurrent episodes  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0000217  |  Dry mouth syndrome  |  1
HP:0200034  |  Papule  |  1
HP:0002013  |  Emesis  |  1
HP:0002018  |  Nausea  |  1
HP:0001733  |  Pancreatic inflammation  |  1
HP:0002958  |  Immune dysregulation  |  1
HP:0002039  |  Anorexia  |  1
HP:0000670  |  Dental caries  |  1
HP:0100583  |  Corneal perforation  |  1
HP:0004430  |  Severe combined immunodeficiency  |  1
HP:0001945  |  Fever  |  1
HP:0012378  |  Fatigue  |  1
HP:0005214  |  Bowel obstruction  |  1
HP:0005523  |  Lymphoproliferative disorder  |  1
HP:0200016  |  Acral keratosis  |  1
HP:0002613  |  Biliary cirrhosis  |  1
HP:0005550  |  Chronic lymphatic leukemia  |  1
HP:0000518  |  Cataract  |  1
HP:0002904  |  High blood bilirubin levels  |  1
HP:0045073  |  Serositis  |  1
HP:0002860  |  Squamous cell carcinoma  |  1
HP:0011945  |  Cryptogenic organizing pneumonia  |  1
HP:0000979  |  Purpura  |  1
HP:0005584  |  Renal cell carcinoma  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0001746  |  Absent spleen  |  1
HP:0001410  |  Decreased liver function  |  1
HP:0001876  |  Low blood cell count  |  1
HP:0002563  |  Constrictive pericarditis  |  1
HP:0007502  |  Hyperkeratosis follicularis  |  1
HP:0003394  |  Muscle cramps  |  1
HP:0005132  |  Pericardial constriction  |  1
HP:0000620  |  Dacrocystitis  |  1
HP:0007133  |  Progressive peripheral neuropathy  |  1
HP:0002583  |  Colitis  |  1
HP:0002910  |  Elevated transaminases  |  1
HP:0001371  |  Flexion contractures of joints  |  1
HP:0006536  |  Obstructive lung disease  |  1
HP:0001019  |  Exfoliative dermititis  |  1
HP:0001638  |  Cardiomyopathy  |  1
HP:0002202  |  Pleural effusion  |  1
HP:0001096  |  Keratoconjunctivitis  |  1
HP:0009830  |  Peripheral neuritis  |  1
HP:0002015  |  Swallowing difficulty  |  1
HP:0001259  |  Coma  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0001409  |  Portal hypertension  |  1
Disease ID 556
Disease graft versus host disease
Manually Symptom
UMLS  | Name(Total Manually Symptoms:11)
C2364133  |  infection
C1555769  |  pulmonary disease
C0752303  |  urological manifestation
C0585362  |  squamous cell carcinoma of the oral cavity
C0314719  |  dry eye
C0040261  |  onychomycosis
C0037284  |  skin lesions
C0029166  |  oral manifestations
C0014034  |  enanthema
C0008370  |  cholestasis
C0001883  |  airways obstruction
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:8)
C0314719  |  dry eye  |  8
C0426768  |  o sign  |  5
C0023418  |  leukemia  |  4
C0029166  |  oral manifestations  |  2
C0026946  |  fungal infections  |  2
C0270922  |  demyelinating polyneuropathy  |  1
C0009450  |  infection  |  1
C0043541  |  zygomycosis  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:3)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1061622146885267133TNFRSF1Bumls:C0018133BeFreeTumour necrosis factor receptor type II 196M/R genotype correlates with circulating soluble receptor levels in normal subjects and with graft-versus-host disease after sibling allogeneic bone marrow transplantation.0.0106397722003TNFRSF1B112192898TG
rs2275913220288383605IL17Aumls:C0018133BeFreeWhen we examined the impact of rs2275913 in a cohort consisting of 438 pairs of patients and their unrelated donors transplanted through the Japan Marrow Donor Program, the donor IL-17 197A allele was found to be associated with a higher risk of acute graft-versus-host disease (GVHD; hazard ratio [HR], 1.46; 95% confidence interval [CI], 1.00 to 2.13; P = 0.05).0.1208143262011IL17A652186235GA
rs46936082431928610855HPSEumls:C0018133BeFreeThe study emphasizes the importance of rs4693608 SNP for HPSE gene expression in activated MNCs, indicating a role in allogeneic stem cell transplantation, including postconditioning, engraftment, and GVHD.0.0031813582014HPSE483320204GA
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 556
Disease graft versus host disease
Case(Waiting for update.)