PedAM
Pediatric Disease Annotations & Medicines
| west syndrome | ||||
| Disease ID | 165 |
|---|---|
| Disease | west syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0001263 | Developmental retardation | 3 HP:0006808 | Cerebral hypomyelination | 3 HP:0001250 | Seizures | 2 HP:0002521 | Hypsarrhythmia by EEG | 2 HP:0012469 | Infantile spasms | 2 HP:0002459 | Dysautonomia | 1 HP:0003477 | Peripheral axonal neuropathy | 1 HP:0010819 | drop attacks | 1 HP:0001992 | Organic aciduria | 1 HP:0001298 | Encephalopathy | 1 HP:0001249 | Mental retardation | 1 HP:0011097 | Salaam convulsions | 1 HP:0012120 | Methymalonicaciduria | 1 HP:0011170 | Myoclonic atonic seizures | 1 HP:0004430 | Severe combined immunodeficiency | 1 HP:0003219 | Ethylmalonic aciduria | 1 HP:0005387 | Combined immunodeficiency | 1 |
| Disease ID | 165 |
|---|---|
| Disease | west syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C2700524 | leigh syndrome C2047214 | human herpesvirus infection C1963101 | encephalopathy C1415618 | hypomelanosis of ito C0796004 | kabuki make-up syndrome C0751495 | partial seizures C0580190 | 3-phosphoglycerate dehydrogenase deficiency C0265449 | pallister-killian syndrome C0175695 | sotos syndrome C0040560 | congenital toxoplasmosis C0037769 | infantile spasms C0037763 | spasms C0036572 | seizures C0025517 | metabolic diseases C0017668 | focal glomerulosclerosis C0014544 | epilepsy |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0037763 | spasms | 4 C0037769 | infantile spasms | 2 C0085584 | encephalopathy | 1 C0040560 | congenital toxoplasmosis | 1 C0014544 | epilepsy | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11872992 | 18461507 | 5443 | POMC | umls:C0037769 | BeFree | The rs11872992 polymorphism influences ACTH treatment responses in patients with infantile spasms. | 0.123528744 | 2007 | MC4R | 18 | 60373354 | G | A |
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.) |
Chemical(Total Drugs:4) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0037769 | clobazam | C012255 | 22316-47-8 | spasms, infantile | MESH:D013036 | therapeutic | 19735986 | ||
| C0037769 | theophylline | D013806 | 58-55-9 | spasms, infantile | MESH:D013036 | marker/mechanism | 7756814 | ||
| C0037769 | valproic acid | D014635 | 99-66-1 | spasms, infantile | MESH:D013036 | therapeutic | 1491708 | ||
| C0037769 | vigabatrin | D020888 | 60643-86-9 | spasms, infantile | MESH:D013036 | therapeutic | 11207785 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |