eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| esthesioneuroblastoma | ||||
| Disease ID | 1011 |
|---|---|
| Disease | esthesioneuroblastoma |
| Definition | A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. It is uncommon (3% of nasal tumors) and rarely is associated with the production of excess hormones (e.g., SIADH, Cushing Syndrome). It has a high propensity for multiple local recurrences and bony metastases. (From Holland et al., Cancer Medicine, 3rd ed, p1245; J Laryngol Otol 1998 Jul;112(7):628-33) |
| Synonym | accessory sinus esthesioneuroblastoma aesthesioneuroblastoma aesthesioneuroblastomas aesthesioneuroepithelioma asthesioneuroblastoma asthesioneuroblastoma (morphologic abnormality) esthesioneuroblastoma (morphologic abnormality) esthesioneuroblastoma of accessory sinus esthesioneuroblastoma of paranasal sinus esthesioneuroblastoma of the accessory sinus esthesioneuroblastoma of the paranasal sinus esthesioneuroblastoma olfactory esthesioneuroblastoma, olfactory esthesioneuroblastoma, olfactory [disease/finding] esthesioneuroblastoma, paranasal sinus and nasal cavity esthesioneuroblastoma, paranasal sinus nasal cavity esthesioneuroblastoma, paranasal sinus-nasal cavity esthesioneuroblastomas esthesioneuroblastomas, olfactory esthesioneuroepithelioma esthesioneuroepithelioma (morphologic abnormality) esthesioneuroepithelioma [dup] (morphologic abnormality) nasal cavity and paranasal sinus esthesioneuroblastoma neuroblastoma, olfactory neuroblastomas, olfactory olfactory esthesioneuroblastoma olfactory esthesioneuroblastomas olfactory neuroblastoma olfactory neuroblastoma (disorder) olfactory neuroblastomas olfactory neuroepithelioma paranasal sinus and nasal cavity esthesioneuroblastoma paranasal sinus esthesioneuroblastoma paranasal sinus nasal cavity esthesioneuroblastoma paranasal sinus olfactory neuroblastoma paranasal sinus-nasal cavity esthesioneuroblastoma |
| Orphanet | |
| DOID | |
| UMLS | C0206717 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:29) 9048 | ARTN | 2.137 | DISEASES 551 | AVP | 3.989 | DISEASES 4267 | CD99 | 4.139 | DISEASES 1260 | CNGA2 | 3.29 | DISEASES 1641 | DCX | 1.111 | DISEASES 10938 | EHD1 | 1.663 | DISEASES 27436 | EML4 | 1.197 | DISEASES 2130 | EWSR1 | 2.202 | DISEASES 2195 | FAT1 | 1.793 | DISEASES 2260 | FGFR1 | 1.498 | DISEASES 2314 | FLII | 2.019 | DISEASES 221937 | FOXK1 | 3.062 | DISEASES 2596 | GAP43 | 1.348 | DISEASES 2736 | GLI2 | 1.271 | DISEASES 4133 | MAP2 | 2.146 | DISEASES 2315 | MLANA | 1.645 | DISEASES 4629 | MYH11 | 1.227 | DISEASES 58484 | NLRC4 | 1.552 | DISEASES 4914 | NTRK1 | 2.707 | DISEASES 4975 | OMP | 4.275 | DISEASES 5079 | PAX5 | 1.027 | DISEASES 5788 | PTPRC | 1.867 | DISEASES 146713 | RBFOX3 | 1.778 | DISEASES 55188 | RIC8B | 3.332 | DISEASES 23309 | SIN3B | 3.188 | DISEASES 23583 | SMUG1 | 1.837 | DISEASES 6752 | SSTR2 | 2.28 | DISEASES 83857 | TMTC1 | 2.043 | DISEASES 10381 | TUBB3 | 2.918 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1011 |
|---|---|
| Disease | esthesioneuroblastoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000520 | Anterior bulging of the globe of eye | 2 HP:0002835 | Aspiration | 1 HP:0002664 | Neoplasia | 1 HP:0030731 | Carcinoma | 1 |
| Disease ID | 1011 |
|---|---|
| Disease | esthesioneuroblastoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
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 | 1011 |
|---|---|
| Disease | esthesioneuroblastoma |
| Case | (Waiting for update.) |