eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| idiopathic hypersomnia | ||||
| Disease ID | 1546 |
|---|---|
| Disease | idiopathic hypersomnia |
| Definition | A disorder of central nervous system etiology characterized by excessive sleepiness during the daytime. |
| Synonym | primary hypersomnia primary hypersomnia (disorder) |
| Orphanet | |
| ICD10 | |
| UMLS | C0033138 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1546 |
|---|---|
| Disease | idiopathic hypersomnia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0030050 | Narcolepsy | 1 HP:0001262 | Somnolence | 1 HP:0010535 | Sleep apnea | 1 HP:0002076 | Migraine headaches | 1 HP:0002104 | Absence of spontaneous respiration | 1 |
| Disease ID | 1546 |
|---|---|
| Disease | idiopathic hypersomnia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001262 | Somnolence | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| Disease ID | 1546 |
|---|---|
| Disease | idiopathic hypersomnia |
| Case | (Waiting for update.) |