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Pediatric Disease Annotations & Medicines



   ck syndrome
  

Disease ID 1372
Disease ck syndrome
Synonym
mental retardation, x-linked, with thin body habitus and cortical malformation
Orphanet
OMIM
UMLS
C3151781
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:32)
C0031154  |  peritonitis  |  2
C0015645  |  fasciitis  |  2
C0034150  |  purpura  |  2
C0024291  |  hemophagocytic syndrome  |  1
C0027726  |  nephrotic syndrome  |  1
C0022660  |  acute renal failure  |  1
C0011880  |  diabetic ketoacidosis  |  1
C0019100  |  dengue hemorrhagic fever  |  1
C0013261  |  duane syndrome  |  1
C0085650  |  purpura fulminans  |  1
C0014038  |  encephalitis  |  1
C0011633  |  dermatomyositis  |  1
C0027765  |  neurological disease  |  1
C0206674  |  villous adenoma  |  1
C0086543  |  cataract  |  1
C0027947  |  neutropenia  |  1
C0238124  |  necrotizing fasciitis  |  1
C0040034  |  thrombocytopenia  |  1
C0024523  |  malabsorption  |  1
C0003125  |  anorexia nervosa  |  1
C0282207  |  cronkhite-canada syndrome  |  1
C0334306  |  villous adenocarcinoma  |  1
C0085435  |  reactive arthritis  |  1
C0008925  |  cleft palate  |  1
C0035078  |  renal failure  |  1
C0003864  |  arthritis  |  1
C0007789  |  cerebral palsy  |  1
C0035436  |  rheumatic fever  |  1
C0031350  |  pharyngitis  |  1
C0018378  |  guillain-barre syndrome  |  1
C0034888  |  rectal prolapse  |  1
C0042267  |  vaginitis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
NSDHL  |  50814  |  CLINVAR;CTD_human;ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:1)
NSDHL  |  Xq28
Disease ID 1372
Disease ck syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:33)
HP:0012531  |  Pain  |  5
HP:0001945  |  Fever  |  4
HP:0002615  |  Low blood pressure  |  3
HP:0100806  |  Sepsis  |  2
HP:0100537  |  Inflammation of the fascia  |  2
HP:0003419  |  Low back pain  |  2
HP:0003418  |  Back pain  |  2
HP:0002586  |  Peritonitis  |  2
HP:0030683  |  Vaginitis  |  1
HP:0000175  |  Palatoschisis  |  1
HP:0000518  |  Cataract  |  1
HP:0011868  |  Sciatica  |  1
HP:0001919  |  Acute renal failure  |  1
HP:0000100  |  Nephrosis  |  1
HP:0002383  |  Encephalitis  |  1
HP:0001873  |  Low platelet count  |  1
HP:0100021  |  Cerebral palsy  |  1
HP:0002938  |  Exaggerated lumbar lordosis  |  1
HP:0006640  |  Multiple rib fractures  |  1
HP:0011947  |  Respiratory infection  |  1
HP:0002035  |  Rectal prolapse  |  1
HP:0003111  |  Electrolyte disorders  |  1
HP:0001369  |  Arthritis  |  1
HP:0002024  |  Intestinal malabsorption  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0001399  |  Liver failure  |  1
HP:0002039  |  Anorexia  |  1
HP:0000979  |  Purpura  |  1
HP:0002757  |  Multiple fractures  |  1
HP:0002098  |  Respiratory distress  |  1
HP:0001953  |  Diabetic ketosis  |  1
HP:0003307  |  Hyperlordosis  |  1
HP:0001875  |  Neutropenia  |  1
Disease ID 1372
Disease ck 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:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121909833NA50814NSDHLumls:C3151781CLINVARNA0.360542884NANSDHLX152867580GAA-
rs121909834NA50814NSDHLumls:C3151781CLINVARNA0.360542884NANSDHLX152869092-T
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.)