eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fibrous dysplasia of bone | ||||
| Disease ID | 1082 |
|---|---|
| Disease | fibrous dysplasia of bone |
| Definition | A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC). |
| Synonym | bone dysplasia fibrous bone fibrous dysplasia bone fibrous dysplasias fibrosa osteitis fibrous dysplasia bone fibrous dysplasia of bone (disorder) fibrous dysplasia of bone [disease/finding] fibrous dysplasia of bone, nos fibrous dysplasia of the bones osteitis fibrosa osteitis fibrosa disseminata osteitis fibrosa, nos |
| Orphanet | |
| DOID | |
| UMLS | C0016063 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0221002 | primary hyperparathyroidism | 3 C0020437 | hypercalcemia | 2 C0020502 | hyperparathyroidism | 1 C0029132 | optic neuropathy | 1 C0242292 | mccune albright syndrome | 1 C0259779 | fibrous dysplasia | 1 C0917796 | leber hereditary optic neuropathy | 1 C0029456 | osteoporosis | 1 C0029442 | osteomalacia | 1 C0005940 | bone disease | 1 C0085681 | hyperphosphataemia | 1 C0008479 | chondrosarcoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 567 | B2M | 2.212 | DISEASES 632 | BGLAP | 4.269 | DISEASES 796 | CALCA | 3.719 | DISEASES 846 | CASR | 3.252 | DISEASES 79577 | CDC73 | 2.813 | DISEASES 2591 | GALNT3 | 1.968 | DISEASES 2778 | GNAS | 1.939 | DISEASES 9365 | KL | 1.47 | DISEASES 9735 | KNTC1 | 4.897 | DISEASES 8972 | MGAM | 2.564 | DISEASES 79625 | NDNF | 1.862 | DISEASES 4700 | NDUFA6 | 1.312 | DISEASES 387129 | NPSR1 | 2.679 | DISEASES 5154 | PDGFA | 2.156 | DISEASES 5745 | PTH1R | 2.023 | DISEASES 5744 | PTHLH | 2.528 | DISEASES 6005 | RHAG | 1.22 | DISEASES 6424 | SFRP4 | 1.391 | DISEASES 7421 | VDR | 2.666 | DISEASES 57862 | ZNF410 | 2.04 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1082 |
|---|---|
| Disease | fibrous dysplasia of bone |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0008200 | Primary hyperparathyroidism | 3 HP:0003072 | Hypercalcemia | 2 HP:0010734 | Fibrous dysplasia of the bones | 1 HP:0000939 | Osteoporosis | 1 HP:0002749 | Osteomalacia | 1 HP:0002901 | Hypocalcemia | 1 HP:0001138 | Damaged optic nerve | 1 HP:0000843 | Hyperparathyroidism | 1 HP:0002664 | Neoplasia | 1 HP:0006765 | Chondrosarcoma | 1 |
| Disease ID | 1082 |
|---|---|
| Disease | fibrous dysplasia of bone |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:9) |
| 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1082 |
|---|---|
| Disease | fibrous dysplasia of bone |
| Case | (Waiting for update.) |