eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| melorheostosis | ||||
| Disease ID | 671 |
|---|---|
| Disease | melorheostosis |
| Definition | A form of osteosclerosis extending in a linear track mainly through one of the long bones of the upper and lower limbs. |
| Synonym | candle wax disease flowing hyperostosis hyperostosis, monomelic leri syndrome leri's disease melorheostoses melorheostosis (disorder) melorheostosis [disease/finding] melorheostosis leri melorheostosis of leri osteopathia hyperostotica congenita periostitis, monomelic rheostosis |
| Orphanet | |
| DOID | |
| UMLS | C0025239 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 1747 | DLX3 | 3.47 | DISEASES 2131 | EXT1 | 2.306 | DISEASES 355 | FAS | 1.44 | DISEASES 2261 | FGFR3 | 1.556 | DISEASES 2591 | GALNT3 | 2.385 | DISEASES 3122 | HLA-DRA | 2.886 | DISEASES 3347 | HTN3 | 2.756 | DISEASES 83876 | MRO | 3.759 | DISEASES 10631 | POSTN | 2.039 | DISEASES 5745 | PTH1R | 2.35 | DISEASES 860 | RUNX2 | 1.501 | DISEASES 4088 | SMAD3 | 1.494 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 671 |
|---|---|
| Disease | melorheostosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 671 |
|---|---|
| Disease | melorheostosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| 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: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 | 671 |
|---|---|
| Disease | melorheostosis |
| Case | (Waiting for update.) |