eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| scott syndrome | ||||
| Disease ID | 1912 |
|---|---|
| Disease | scott syndrome |
| Definition | Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation.[1] - Wikipedia Reference: https://en.wikipedia.org/wiki/scott syndrome |
| Synonym | bdplt7 bleeding abnormality due to deficiency of platelet binding of factor x bleeding disorder, platelet-type, 7 prothrombin consumption deficiency prothrombin consumption inhibitor, familial prothrombin conversion defect, familial scott syndrome (disorder) scotts syndrome scts |
| Orphanet | |
| OMIM | |
| UMLS | C0796149 |
| 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 | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) ANO6 | 12q12 |
| Disease ID | 1912 |
|---|---|
| Disease | scott syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0003256 | Coagulopathy | 1 HP:0100543 | Cognitive deficits | 1 HP:0003198 | Myopathic changes | 1 HP:0100754 | Mania | 1 |
| Disease ID | 1912 |
|---|---|
| Disease | scott syndrome |
| Manually Symptom | (Waiting for update.) |
| 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 | 1912 |
|---|---|
| Disease | scott syndrome |
| Case | (Waiting for update.) |