eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fibromuscular dysplasia | ||||
| Disease ID | 883 |
|---|---|
| Disease | fibromuscular dysplasia |
| Definition | An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity. |
| Synonym | arterial fibrodysplasia arterial fibromuscular dysplasia dysplasia, fibromuscular dysplasias, fibromuscular fibromuscular dysplasia (morphologic abnormality) fibromuscular dysplasia [disease/finding] fibromuscular dysplasias fibromuscular hyperplasia of arteries nos fibromuscular hyperplasia of arteries nos (disorder) fibromuscular hyperplasia of artery fibromuscular hyperplasia of artery (disorder) fibromuscular hyperplasia of artery [ambiguous] fmd - fibromuscular dysplasia |
| DOID | |
| ICD10 | |
| UMLS | C0016052 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:18) C0020538 | hypertension | 12 C0020545 | renovascular hypertension | 7 C0020538 | vascular hypertension | 7 C0035302 | retinal artery occlusion | 1 C0007766 | intracranial aneurysm | 1 C0007766 | cranial aneurysm | 1 C0022661 | chronic kidney disease | 1 C0020540 | malignant hypertension | 1 C0022658 | kidney disease | 1 C0009782 | connective tissue disorder | 1 C0007688 | central retinal artery occlusion | 1 C0010073 | coronary vasospasm | 1 C0009782 | connective tissue disorders | 1 C0030326 | panniculitis | 1 C0020542 | pulmonary hypertension | 1 C0039263 | takayasu arteritis | 1 C0155616 | secondary hypertension | 1 C0004153 | atherosclerosis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 883 |
|---|---|
| Disease | fibromuscular dysplasia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:19) HP:0000822 | Hypertension | 12 HP:0006702 | Spontaneous coronary artery dissection | 7 HP:0002617 | Aneurysmal dilatation | 7 HP:0100817 | Renovascular hypertension | 7 HP:0001920 | Renal artery stenosis | 4 HP:0001297 | Cerebral vascular events | 3 HP:0002140 | Ischemic stroke | 3 HP:0012089 | Arteritis | 2 HP:0002647 | Aortic dissection | 2 HP:0002251 | Hirschsprung megacolon | 1 HP:0002664 | Neoplasia | 1 HP:0002092 | Pulmonary artery hypertension | 1 HP:0002621 | Atherosclerosis | 1 HP:0004944 | Cerebral artery aneurysm | 1 HP:0012622 | Chronic kidney disease | 1 HP:0012163 | Carotid artery aneurysm | 1 HP:0002027 | Abdominal pain | 1 HP:0012531 | Pain | 1 HP:0012490 | Inflammation of fat tissue | 1 |
| Disease ID | 883 |
|---|---|
| Disease | fibromuscular dysplasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:39) C2632116 | stenosis C2363866 | traumatic occlusion C2170194 | left renal artery stenosis C2029884 | hearing loss C1963138 | hypertension C1962958 | hematoma C1550639 | fistula C1280008 | abdominal angina C0948008 | ischemic stroke C0919563 | renal artery dissection C0917996 | cerebral aneurysms C0917996 | cerebral aneurysm C0856760 | bilateral renal artery stenosis C0850304 | popliteal aneurysm C0751815 | internal carotid artery dissection C0340649 | iliac artery dissection C0340569 | internal carotid artery stenosis C0338586 | vertebral artery dissections C0302148 | thrombus C0264972 | hepatic artery aneurysm C0241961 | renal angiomyolipoma C0238045 | carotid-cavernous sinus fistula C0238045 | carotid-cavernous fistula C0162870 | iliac artery aneurysm C0038525 | subarachnoid hemorrhage C0038449 | artery stenosis C0038449 | arterial stenosis C0035067 | renal artery stenosis C0035067 | renal artery stenoses C0020545 | renovascular hypertension C0018991 | hemiplegia C0018989 | hemiparesis C0007787 | transient ischaemic attacks C0007688 | central retinal artery occlusion C0007282 | carotid artery stenosis C0005136 | berry aneurysms C0002949 | dissecting aneurysm C0002940 | aneurysms C0002940 | aneurysm |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:11) C0020538 | hypertension | 12 C0020545 | renovascular hypertension | 7 C0009814 | stenosis | 6 C0038449 | artery stenosis | 5 C0002940 | aneurysm | 4 C0035067 | renal artery stenosis | 4 C0948008 | ischemic stroke | 3 C0002940 | aneurysms | 3 C1280008 | abdominal angina | 1 C0018944 | hematoma | 1 C0007688 | central retinal artery occlusion | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 883 |
|---|---|
| Disease | fibromuscular dysplasia |
| Case | (Waiting for update.) |