eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| blastomycosis | ||||
| Disease ID | 1881 |
|---|---|
| Disease | blastomycosis |
| Definition | A fungal infection that may appear in two forms: 1, a primary lesion characterized by the formation of a small cutaneous nodule and small nodules along the lymphatics that may heal within several months; and 2, chronic granulomatous lesions characterized by thick crusts, warty growths, and unusual vascularity and infection in the middle or upper lobes of the lung. |
| Synonym | [x]blastomycosis, unspecified [x]blastomycosis, unspecified (disorder) blastomycoses blastomycosis (disorder) blastomycosis [disease/finding] blastomycosis nos blastomycosis nos (disorder) blastomycosis, nos blastomycotic infection blastomycotic infection nos blastomycotic infection nos (disorder) blastomycotic infection, nos infection by blastomyces infection by blastomyces dermatitidis infection by blastomyces dermatitidis (disorder) infection by blastomyces, nos infection caused by blastomyces dermatitidis infection caused by blastomyces dermatitidis (disorder) |
| DOID | |
| UMLS | C0005716 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0026946 | fungal infections | 1 C0043092 | wegener's granulomatosis | 1 C0020538 | hypertension | 1 C0009186 | coccidioidomycosis | 1 C1145670 | respiratory failure | 1 C1704437 | respiratory distress syndrome | 1 C0026946 | fungal infection | 1 C0023890 | cirrhosis | 1 C0206693 | medullary carcinoma | 1 C0238462 | medullary carcinoma of the thyroid | 1 C0035222 | acute respiratory distress syndrome | 1 C0024312 | lymphocytopenia | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 959 | CD40LG | 1.67 | DISEASES 1043 | CD52 | 1.86 | DISEASES 1192 | CLIC1 | 2.139 | DISEASES 2920 | CXCL2 | 2.014 | DISEASES 83658 | DYNLRB1 | 3.012 | DISEASES 2318 | FLNC | 1.623 | DISEASES 2624 | GATA2 | 2.091 | DISEASES 2638 | GC | 1.852 | DISEASES 3745 | KCNB1 | 2.755 | DISEASES 4599 | MX1 | 1.644 | DISEASES 79625 | NDNF | 2.982 | DISEASES 9033 | PKD2L1 | 3.297 | DISEASES 83695 | RHNO1 | 3.556 | DISEASES 83733 | SLC25A18 | 3.24 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1881 |
|---|---|
| Disease | blastomycosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0001254 | Lethargy | 1 HP:0001888 | Lymphocytopenia | 1 HP:0001394 | Hepatic cirrhosis | 1 HP:0002878 | Respiratory failure | 1 HP:0000822 | Hypertension | 1 HP:0002098 | Respiratory distress | 1 |
| Disease ID | 1881 |
|---|---|
| Disease | blastomycosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:12) C1962974 | chylothorax C0553548 | necrotizing arteritis C0524702 | pulmonary thromboembolism C0272412 | splenic abscess C0035222 | adult respiratory distress syndrome C0032285 | pneumonia C0032226 | pleural disease C0029882 | otitis media C0024214 | lymphangiectasia C0020437 | hypercalcemia C0015397 | ocular disease C0014236 | endophthalmitis |
| Text Mined Symptom | (Waiting for update.) |
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) | |
|---|---|
| (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 | 1881 |
|---|---|
| Disease | blastomycosis |
| Case | (Waiting for update.) |