eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| buerger disease | ||||
| Disease ID | 448 |
|---|---|
| Disease | buerger disease |
| Definition | A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking. |
| Synonym | buerger dis buerger diseases buerger's disease buergers dis buergers disease buergers diseases buergers's disease disease, buerger disease, buerger's gangrene, presenile obliterans thromboangiitis obliterans thromboangitis presenile gangrene presenile gangrene (disorder) tao taos thrombo angiitis obliterans thromboangiit obliterans thromboangiitis obliterans thromboangiitis obliterans (disorder) thromboangiitis obliterans [buerger's disease] thromboangiitis obliterans [disease/finding] thromboangiitis obliterans nos thromboangiitis obliterans nos (disorder) thromboangiitis, obliterans thromboangitis obliterans winiwarter-buerger disease |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0040021 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0022116 | ischemia | 7 C0033838 | kimura's disease | 1 C0020598 | hypoglycemia | 1 C0010068 | coronary artery disease | 1 C0022116 | ischaemia | 1 C0003850 | arteriosclerosis | 1 C0003851 | arteriosclerosis obliterans | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:27) 153 | ADRB1 | 1.318 | DISEASES 617 | BCS1L | 1.374 | DISEASES 65250 | C5orf42 | 2.437 | DISEASES 959 | CD40LG | 1.907 | DISEASES 1282 | COL4A1 | 1.626 | DISEASES 2919 | CXCL1 | 1.59 | DISEASES 6993 | DYNLT1 | 1.988 | DISEASES 1889 | ECE1 | 1.613 | DISEASES 1906 | EDN1 | 2.466 | DISEASES 1907 | EDN2 | 1.619 | DISEASES 1908 | EDN3 | 1.174 | DISEASES 2152 | F3 | 1.624 | DISEASES 3105 | HLA-A | 1.926 | DISEASES 3363 | HTR7 | 1.351 | DISEASES 102723508 | KANTR | 2.943 | DISEASES 100507436 | MICA | 1.992 | DISEASES 4524 | MTHFR | 1.525 | DISEASES 5228 | PGF | 1.42 | DISEASES 5328 | PLAU | 1.551 | DISEASES 8842 | PROM1 | 2.128 | DISEASES 6401 | SELE | 2.158 | DISEASES 54437 | SEMA5B | 3.859 | DISEASES 1992 | SERPINB1 | 1.671 | DISEASES 462 | SERPINC1 | 1.723 | DISEASES 26503 | SLC17A5 | 1.471 | DISEASES 83650 | SLC35G5 | 1.612 | DISEASES 25844 | YIPF3 | 2.819 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 448 |
|---|---|
| Disease | buerger disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0002829 | Arthralgia HP:0003401 | Paresthesia HP:0000975 | Hyperhidrosis HP:0002633 | Vasculitis HP:0000763 | Sensory neuropathy HP:0004420 | Arterial thrombosis HP:0100785 | Insomnia HP:0001063 | Acrocyanosis HP:0100758 | Gangrene HP:0200042 | Skin ulcer |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0012531 | Pain | 3 HP:0000501 | Glaucoma | 1 HP:0002960 | Autoimmune condition | 1 HP:0002634 | Arteriosclerosis | 1 HP:0001677 | Coronary artery disease | 1 HP:0030157 | Flank pain | 1 HP:0012219 | Erythema nodosum | 1 HP:0010783 | Erythema | 1 HP:0001943 | Hypoglycemia | 1 |
| Disease ID | 448 |
|---|---|
| Disease | buerger disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0022116 | ischemia | 7 C0030193 | pain | 2 C0010068 | coronary artery disease | 1 C0263555 | ischemic ulcer | 1 C0022116 | ischaemia | 1 C0152136 | normal tension glaucoma | 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004420 | Arterial thrombosis | MP:0005048 | thrombosis | formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements |
Mapped by homologous gene(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0004420 | Arterial thrombosis | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0100785 | Insomnia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001063 | Acrocyanosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100758 | Gangrene | MP:0011517 | hyperoxaluria | abnormally high levels of oxalic acid or oxalates in the urine; many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of the most common kind of kidney stones |
| HP:0000763 | Sensory neuropathy | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| Disease ID | 448 |
|---|---|
| Disease | buerger disease |
| Case | (Waiting for update.) |