eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| multicentric reticulohistiocytosis | ||||
| Disease ID | 725 |
|---|---|
| Disease | multicentric reticulohistiocytosis |
| Definition | a rare disease where skin rashes containing lipid are associated with arthritis |
| Synonym | histiocytoma, giant cell lipoid dermatoarthritis lipoid dermatoarthritis (disorder) mrh multicentric reticulohistiocytosis (disorder) nicolau-balus syndrome reticulohistiocytoma, multicentric |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0311284 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0019204 | liver carcinoma | 2 C0029401 | paget's disease | 1 C0011633 | dermatomyositis | 1 C0034069 | pulmonary fibrosis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 9332 | CD163 | 1.253 | DISEASES 911 | CD1C | 1.632 | DISEASES 2053 | EPHX2 | 2.246 | DISEASES 2289 | FKBP5 | 2.237 | DISEASES 2526 | FUT4 | 1.985 | DISEASES 26762 | HAVCR1 | 3.217 | DISEASES 5788 | PTPRC | 3.339 | DISEASES 6280 | S100A9 | 3.181 | DISEASES 5265 | SERPINA1 | 2.006 | DISEASES 12 | SERPINA3 | 1.263 | DISEASES 6693 | SPN | 2.366 | DISEASES 7124 | TNF | 2.062 | DISEASES 7133 | TNFRSF1B | 2.855 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 725 |
|---|---|
| Disease | multicentric reticulohistiocytosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0004326 | Cachexia HP:0001369 | Arthritis HP:0001324 | Muscle weakness HP:0100727 | Histiocytosis HP:0001945 | Fever HP:0200036 | Skin nodule |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 725 |
|---|---|
| Disease | multicentric reticulohistiocytosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100727 | Histiocytosis | MP:0011080 | increased macrophage apoptosis | greater incidence of cell death in macrophages |
| HP:0200036 | Skin nodule | MP:0013601 | increased testis apoptosis | increase in the number of cells of the male reproductive glands undergoing programmed cell death |
| Disease ID | 725 |
|---|---|
| Disease | multicentric reticulohistiocytosis |
| Case | (Waiting for update.) |