eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tumoral calcinosis | ||||
| Disease ID | 1471 |
|---|---|
| Disease | tumoral calcinosis |
| Definition | An extremely rare benign condition characterized by large calcified periarticular soft tissue masses composed of calcium salts, usually located around large joints. Tumoral calcinosis can occur due to HYPERPHOSPHATEMIA in patients with UREMIA and/or who are undergoing RENAL DIALYSIS. |
| Synonym | calcinoses, tumoral calcinosis tumoral calcinosis, tumoral tumoral calcinoses tumoral calcinosis (disorder) tumoural calcinosis |
| UMLS | C0263628 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0036421 | systemic sclerosis | 2 C0036202 | sarcoidosis | 1 C0020626 | hypoparathyroidism | 1 C0018784 | sensorineural deafness | 1 C0410422 | chronic recurrent multifocal osteomyelitis | 1 C0009782 | connective tissue disease | 1 C0085681 | hyperphosphatemia | 1 C0002170 | alopecia | 1 C0026272 | mixed connective tissue disease | 1 C0020503 | secondary hyperparathyroidism | 1 C0020437 | hypercalcemia | 1 C0155550 | neural deafness | 1 C0020502 | hyperparathyroidism | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1471 |
|---|---|
| Disease | tumoral calcinosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0000843 | Hyperparathyroidism | 1 HP:0005901 | Chronic recurrent multifocal osteomyelitis | 1 HP:0003072 | Hypercalcemia | 1 HP:0000365 | Hearing impairment | 1 HP:0001822 | Hallux valgus | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0001596 | Hair loss | 1 HP:0000829 | Hypoparathyroidism | 1 HP:0012622 | Chronic kidney disease | 1 HP:0012531 | Pain | 1 HP:0000867 | Secondary hyperparathyroidism | 1 HP:0002905 | Hyperphosphatemia | 1 |
| Disease ID | 1471 |
|---|---|
| Disease | tumoral calcinosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1471 |
|---|---|
| Disease | tumoral calcinosis |
| Case | (Waiting for update.) |