eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| rheumatoid nodulosis | ||||
| Disease ID | 1623 |
|---|---|
| Disease | rheumatoid nodulosis |
| Definition | Subcutaneous nodules seen in 20-30% of rheumatoid arthritis patients. They may arise anywhere on the body, but are most frequently found over the bony prominences. The nodules are characterized histologically by dense areas of fibrinoid necrosis with basophilic streaks and granules, surrounded by a palisade of cells, mainly fibroblasts and histiocytes. |
| Synonym | nodule, rheumatoid nodules, rheumatoid rheumatoid nodule rheumatoid nodule (disorder) rheumatoid nodule (morphologic abnormality) rheumatoid nodule [disease/finding] rheumatoid nodule, nos rheumatoid nodules rheumatoid noduloses rheumatoid nodulosis (disorder) subcutaneous rheumatoid nodule subcutaneous rheumatoid nodule (disorder) subcutaneous rheumatoid nodules |
| OMIM | |
| UMLS | C0035450 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1623 |
|---|---|
| Disease | rheumatoid nodulosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0001482 | Subcutaneous nodule |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1623 |
|---|---|
| Disease | rheumatoid nodulosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C2348101 | destructive arthritis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1801275 | 20444266 | 3123 | HLA-DRB1 | umls:C0035450 | BeFree | We found that IL4R SNPs, rs1801275 and rs1805010, are associated with rheumatoid nodules in autoantibody-positive African-American RA patients with at least one HLA-DRB1 allele encoding the SE. | 0.006362715 | 2010 | IL4R | 16 | 27363079 | A | G |
| rs1805010 | 20444266 | 3123 | HLA-DRB1 | umls:C0035450 | BeFree | We found that IL4R SNPs, rs1801275 and rs1805010, are associated with rheumatoid nodules in autoantibody-positive African-American RA patients with at least one HLA-DRB1 allele encoding the SE. | 0.006362715 | 2010 | IL4R | 16 | 27344882 | A | C,G,T |
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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| Disease ID | 1623 |
|---|---|
| Disease | rheumatoid nodulosis |
| Case | (Waiting for update.) |