eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| endomyocardial fibrosis | ||||
| Disease ID | 1368 |
|---|---|
| Disease | endomyocardial fibrosis |
| Definition | A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE). |
| Synonym | endocardial fibrosis endomyocardial fibroses endomyocardial fibrosis (disorder) endomyocardial fibrosis -retired- endomyocardial fibrosis [disease/finding] endomyocardial sclerosis fibroses, endomyocardial fibrosis endocardial fibrosis, endomyocardial |
| DOID | |
| UMLS | C0553980 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:17) C0020542 | pulmonary hypertension | 2 C0018801 | heart failure | 2 C0040053 | thrombosis | 2 C0878544 | cardiomyopathy | 1 C0040053 | thrombus | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0087086 | thrombi | 1 C0020538 | hypertension | 1 C0008728 | churg-strauss syndrome | 1 C0206141 | hypereosinophilic syndrome | 1 C0856761 | budd-chiari syndrome | 1 C0007193 | dilated cardiomyopathy | 1 C0085278 | antiphospholipid syndrome | 1 C0878544 | cardiomyopathies | 1 C0003873 | rheumatoid arthritis | 1 C0026848 | myopathy | 1 C0018802 | congestive heart failure | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 800 | CALD1 | 1.944 | DISEASES 959 | CD40LG | 1.599 | DISEASES 1180 | CLCN1 | 5.502 | DISEASES 1756 | DMD | 1.511 | DISEASES 2254 | FGF9 | 2.671 | DISEASES 81608 | FIP1L1 | 4.802 | DISEASES 2318 | FLNC | 1.574 | DISEASES 3105 | HLA-A | 1.058 | DISEASES 3363 | HTR7 | 1.131 | DISEASES 3440 | IFNA2 | 1.123 | DISEASES 8972 | MGAM | 1.888 | DISEASES 4879 | NPPB | 1.314 | DISEASES 190 | NR0B1 | 1.942 | DISEASES 5154 | PDGFA | 2.019 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1368 |
|---|---|
| Disease | endomyocardial fibrosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0001638 | Cardiomyopathy | 2 HP:0002092 | Pulmonary artery hypertension | 2 HP:0001635 | Congestive heart failure | 2 HP:0002639 | Budd-Chiari syndrome | 1 HP:0001370 | Rheumatoid arthritis | 1 HP:0003198 | Myopathic changes | 1 HP:0001297 | Cerebral vascular events | 1 HP:0000969 | Dropsy | 1 HP:0001708 | Impaired right ventricular function | 1 HP:0001644 | Congestive cardiomyopathy | 1 HP:0001907 | Thromboembolic disease | 1 HP:0001658 | Myocardial infarction | 1 HP:0001723 | Restrictive cardiomyopathy | 1 HP:0000822 | Hypertension | 1 HP:0001639 | Hypertrophic cardiomyopathy | 1 |
| Disease ID | 1368 |
|---|---|
| Disease | endomyocardial fibrosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:17) C2363973 | chronic thromboembolic pulmonary hypertension C1963079 | restrictive cardiomyopathy C1704212 | embolism C1444565 | cardiorespiratory failure C1410758 | valvulitis C1399887 | hydropneumopericardium C1260883 | mural thrombus C1253937 | pericardial effusion C0876998 | cardiac thrombosis C0587044 | left ventricular thrombus C0587043 | right ventricular thrombosis C0232197 | fibrillation C0087086 | thrombi C0026267 | mitral valve prolapse C0018799 | cardiopathy C0016085 | filariasis C0008031 | chest pain |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
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 | 1368 |
|---|---|
| Disease | endomyocardial fibrosis |
| Case | (Waiting for update.) |