eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| glomus tumor | ||||
| Disease ID | 1199 |
|---|---|
| Disease | glomus tumor |
| Definition | A blue-red, extremely painful vascular neoplasm involving a glomeriform arteriovenous anastomosis (glomus body), which may be found anywhere in the skin, most often in the distal portion of the fingers and toes, especially beneath the nail. It is composed of specialized pericytes (sometimes termed glomus cells), usually in single encapsulated nodular masses which may be several millimeters in diameter (From Stedman, 27th ed). CHEMODECTOMA, a tumor of NEURAL CREST origin, is also sometimes called a glomus tumor. |
| Synonym | glomus neoplasm glomus tumor (disorder) glomus tumor (morphologic abnormality) glomus tumor [disease/finding] glomus tumors glomus tumour glomus tumour (disorder) tumor glomus tumor, glomus tumors, glomus |
| Orphanet | |
| DOID | |
| UMLS | C0017653 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0085113 | neurofibromatosis | 4 C0334421 | glomangiomas | 3 C0334421 | glomangioma | 2 C0877149 | patellofemoral syndrome | 1 C0153676 | lung metastasis | 1 C0033117 | priapism | 1 C0034735 | raynaud's phenomenon | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 155 | ADRB3 | 1.316 | DISEASES 55107 | ANO1 | 1.623 | DISEASES 347 | APOD | 1.963 | DISEASES 488 | ATP2A2 | 1.378 | DISEASES 800 | CALD1 | 4.886 | DISEASES 1028 | CDKN1C | 1.226 | DISEASES 7122 | CLDN5 | 1.488 | DISEASES 11146 | GLMN | 2.897 | DISEASES 3039 | HBA1 | 2.689 | DISEASES 4099 | MAG | 1.23 | DISEASES 4151 | MB | 1.464 | DISEASES 4588 | MUC6 | 1.303 | DISEASES 4763 | NF1 | 2.151 | DISEASES 2516 | NR5A1 | 1.449 | DISEASES 6390 | SDHB | 2.684 | DISEASES 6392 | SDHD | 1.29 | DISEASES 6525 | SMTN | 3.395 | DISEASES 727837 | SSX2B | 1.554 | DISEASES 6863 | TAC1 | 2.446 | DISEASES 7490 | WT1 | 1.196 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1199 |
|---|---|
| Disease | glomus tumor |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0001067 | Neurofibromas | 5 HP:0012721 | Venous malformations | 2 HP:0002664 | Neoplasia | 2 HP:0012531 | Pain | 2 HP:0002239 | Gastrointestinal hemorrhage | 1 HP:0012735 | Coughing | 1 HP:0012532 | Chronic pain | 1 HP:0200023 | Priapism | 1 HP:0002584 | Intestinal hemorrhage | 1 HP:0002027 | Abdominal pain | 1 HP:0030880 | Raynaud phenomenon | 1 |
| Disease ID | 1199 |
|---|---|
| Disease | glomus tumor |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
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 | 1199 |
|---|---|
| Disease | glomus tumor |
| Case | (Waiting for update.) |