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PedAM

Pediatric Disease Annotations & Medicines



   ring chromosome 20
  

Disease ID 1690
Disease ring chromosome 20
Synonym
chromosome ring 20
r(20) syndrome
ring 20 syndrome
ring chromosome 20 epilepsy syndrome
ring chromosome 20 syndrome
ring chromosome 20 syndrome (disorder)
Orphanet
UMLS
C0265482
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0014544  |  epilepsy  |  2
C0085541  |  frontal lobe epilepsy  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1690
Disease ring chromosome 20
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:4)
HP:0001250  |  Seizures  |  1
HP:0100543  |  Cognitive deficits  |  1
HP:0010821  |  Gelastic seizures  |  1
HP:0200134  |  Epileptic encephalopathy  |  1
Disease ID 1690
Disease ring chromosome 20
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0014544  |  seizure disorder
C0014544  |  epilepsy
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0014544  |  epilepsy  |  2
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.)