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Pediatric Disease Annotations & Medicines



   scott syndrome
  

Disease ID 1167
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)
C0026848  |  myopathy  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
ANO6  |  196527  |  CLINVAR;CTD_human;ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:1)
ANO6  |  12q12
Disease ID 1167
Disease scott syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
HP:0003198  |  Myopathic changes  |  1
HP:0100754  |  Mania  |  1
Disease ID 1167
Disease scott syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining 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.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)