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PedAM

Pediatric Disease Annotations & Medicines



   subvalvular aortic stenosis
  

Disease ID 1093
Disease subvalvular aortic stenosis
Definition
An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.
Synonym
aortic stenoses, subvalvular
aortic stenosis subvalv
aortic stenosis, subvalvular
aortic stenosis, subvalvular [disease/finding]
aortic subvalv stenosis
aortic subvalvular stenoses
aortic subvalvular stenosis
stenoses, aortic subvalvular
stenoses, subvalvular aortic
stenosis, aortic subvalvular
stenosis, subvalvular aortic
subaortic stenosis (disorder)
subvalv aortic stenosis
subvalvar stenosis
subvalvular aortic stenoses
subvalvular stenoses, aortic
subvalvular stenosis
subvalvular stenosis, aortic
DOID
UMLS
C0340375
MeSH
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
POMC  |  5443  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:21)
10857  |  PGRMC1  |  DISEASES
1158  |  CKM  |  DISEASES
4759  |  NEU2  |  DISEASES
2006  |  ELN  |  DISEASES
114294  |  LACTB  |  DISEASES
10558  |  SPTLC1  |  DISEASES
4851  |  NOTCH1  |  DISEASES
4838  |  NODAL  |  DISEASES
909  |  CD1A  |  DISEASES
4061  |  LY6E  |  DISEASES
137814  |  NKX2-6  |  DISEASES
10938  |  EHD1  |  DISEASES
78987  |  CRELD1  |  DISEASES
6622  |  SNCA  |  DISEASES
5781  |  PTPN11  |  DISEASES
7137  |  TNNI3  |  DISEASES
259307  |  IL4I1  |  DISEASES
7827  |  NPHS2  |  DISEASES
7917  |  BAG6  |  DISEASES
8301  |  PICALM  |  DISEASES
6171  |  RPL41  |  DISEASES
Locus(Waiting for update.)
Disease ID 1093
Disease subvalvular aortic stenosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:3)
Disease ID 1093
Disease subvalvular aortic stenosis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0032915  |  pre-excitation syndrome
C0029454  |  osteopetrosis
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.)