Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   pulmonary venoocclusive disease
  

Disease ID 746
Disease pulmonary venoocclusive disease
Definition
Pathological process resulting in the fibrous obstruction of the small- and medium-sized PULMONARY VEINS and PULMONARY HYPERTENSION. Veno-occlusion can arise from fibrous proliferation of the VASCULAR INTIMA and VASCULAR MEDIA; THROMBOSIS; or a combination of both.
Synonym
diseases, pulmonary veno-occlusive
pulm veno occlusive dis
pulmonary veno occlusive disease
pulmonary veno-occlusive disease
pulmonary veno-occlusive disease (disorder)
pulmonary veno-occlusive disease [disease/finding]
pulmonary veno-occlusive diseases
pulmonary venoocclusive diseases
pvod
veno occlusive dis pulm
veno occlusive disease lung
veno occlusive disease, pulmonary
veno-occlusive disease lung
veno-occlusive disease, pulmonary
veno-occlusive diseases, pulmonary
venoocclusive disease, pulmonary
venoocclusive diseases, pulmonary
Orphanet
OMIM
DOID
UMLS
C0034091
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:8)
C0020542  |  pulmonary hypertension  |  5
C1619734  |  pulmonary arterial hypertension  |  2
C0020538  |  hypertension  |  2
C0852949  |  arteriopathy  |  1
C0017921  |  pompe disease  |  1
C0034063  |  pulmonary edema  |  1
C0334121  |  inflammatory pseudotumor  |  1
C1527336  |  sjogren's syndrome  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
440275  |  EIF2AK4  |  CTD_human;ORPHANET;GHR
659  |  BMPR2  |  CTD_human;GHR;UNIPROT;ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:15)
94  |  ACVRL1  |  6.184  |  DISEASES
659  |  BMPR2  |  4.823  |  DISEASES
857  |  CAV1  |  2.059  |  DISEASES
1041  |  CDSN  |  1.412  |  DISEASES
1536  |  CYBB  |  1.357  |  DISEASES
1969  |  EPHA2  |  1.623  |  DISEASES
3266  |  ERAS  |  1.488  |  DISEASES
3351  |  HTR1B  |  1.915  |  DISEASES
3356  |  HTR2A  |  1.511  |  DISEASES
4879  |  NPPB  |  2.696  |  DISEASES
390874  |  ONECUT3  |  3.096  |  DISEASES
5155  |  PDGFB  |  1.333  |  DISEASES
5817  |  PVR  |  1.352  |  DISEASES
6625  |  SNRNP70  |  1.676  |  DISEASES
3604  |  TNFRSF9  |  1.679  |  DISEASES
Locus
Symbol | Locus(Total Locus:2)
BMPR2  |  2q33.1-q33.2
EIF2AK4  |  15q15.1
Disease ID 746
Disease pulmonary venoocclusive disease
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:8)
HP:0002092  |  Pulmonary artery hypertension  |  5
HP:0000822  |  Hypertension  |  2
HP:0100598  |  Pulmonary oedema  |  1
HP:0000969  |  Dropsy  |  1
HP:0007461  |  Hemangiomatosis  |  1
HP:0012418  |  Low blood oxygen level  |  1
HP:0005306  |  Capillary hemangioma  |  1
HP:0002105  |  Hemoptysis  |  1
Disease ID 746
Disease pulmonary venoocclusive disease
Manually Symptom(Waiting for update.)
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: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 746
Disease pulmonary venoocclusive disease
Case(Waiting for update.)