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PedAM

Pediatric Disease Annotations & Medicines



   spastic quadriplegia
  

Disease ID 1153
Disease spastic quadriplegia
Definition
A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.
Synonym
quadriplegia, spastic
quadriplegias, spastic
spastic quadraplegia
spastic quadriplegia (disorder)
spastic quadriplegias
spastic tetraplegia
spastic tetraplegia (disorder)
spastic tetraplegias
tetraplegia, spastic
tetraplegias, spastic
DOID
UMLS
C0426970
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:5)
C0023882  |  spastic diplegia  |  1
C0036439  |  scoliosis  |  1
C0162429  |  malnourished  |  1
C0020255  |  hydrocephalus  |  1
C0020757  |  ichthyosis  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:60)
2519  |  FUCA2  |  DISEASES
440  |  ASNS  |  DISEASES
5020  |  OXT  |  DISEASES
79152  |  FA2H  |  DISEASES
10404  |  CPQ  |  DISEASES
2639  |  GCDH  |  DISEASES
2218  |  FKTN  |  DISEASES
6908  |  TBP  |  DISEASES
3485  |  IGFBP2  |  DISEASES
23435  |  TARDBP  |  DISEASES
51209  |  RAB9B  |  DISEASES
27245  |  AHDC1  |  DISEASES
7166  |  TPH1  |  DISEASES
6737  |  TRIM21  |  DISEASES
23175  |  LPIN1  |  DISEASES
80704  |  SLC19A3  |  DISEASES
25833  |  POU2F3  |  DISEASES
6496  |  SIX3  |  DISEASES
6741  |  SSB  |  DISEASES
2581  |  GALC  |  DISEASES
10000  |  AKT3  |  DISEASES
23530  |  NNT  |  DISEASES
347902  |  AMIGO2  |  DISEASES
285362  |  SUMF1  |  DISEASES
6567  |  SLC16A2  |  DISEASES
288  |  ANK3  |  DISEASES
6529  |  SLC6A1  |  DISEASES
26060  |  APPL1  |  DISEASES
6901  |  TAZ  |  DISEASES
2990  |  GUSB  |  DISEASES
5354  |  PLP1  |  DISEASES
6712  |  SPTBN2  |  DISEASES
682  |  BSG  |  DISEASES
4158  |  MC2R  |  DISEASES
554  |  AVPR2  |  DISEASES
224  |  ALDH3A2  |  DISEASES
2335  |  FN1  |  DISEASES
8654  |  PDE5A  |  DISEASES
6904  |  TBCD  |  DISEASES
26503  |  SLC17A5  |  DISEASES
6711  |  SPTBN1  |  DISEASES
51062  |  ATL1  |  DISEASES
8443  |  GNPAT  |  DISEASES
10763  |  NES  |  DISEASES
117145  |  THEM4  |  DISEASES
6785  |  ELOVL4  |  DISEASES
6709  |  SPTAN1  |  DISEASES
6812  |  STXBP1  |  DISEASES
2517  |  FUCA1  |  DISEASES
1282  |  COL4A1  |  DISEASES
26090  |  ABHD12  |  DISEASES
51091  |  SEPSECS  |  DISEASES
4338  |  MOCS2  |  DISEASES
3033  |  HADH  |  DISEASES
4588  |  MUC6  |  DISEASES
10908  |  PNPLA6  |  DISEASES
374308  |  PTCHD3  |  DISEASES
4586  |  MUC5AC  |  DISEASES
102723508  |  KANTR  |  DISEASES
114614  |  MIR155HG  |  DISEASES
Locus(Waiting for update.)
Disease ID 1153
Disease spastic quadriplegia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:10)
HP:0000238  |  Nonsyndromal hydrocephalus  |  1
HP:0001263  |  Developmental retardation  |  1
HP:0001249  |  Mental retardation  |  1
HP:0002607  |  Anal incontinence  |  1
HP:0001257  |  Spasticity  |  1
HP:0008064  |  Ichthyosis  |  1
HP:0002650  |  Scoliosis  |  1
HP:0001264  |  Spastic diplegia  |  1
HP:0011344  |  Severe global developmental delay  |  1
HP:0030051  |  Walking on tiptoes  |  1
Disease ID 1153
Disease spastic quadriplegia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C0700208  |  scoliosis
C0392549  |  cerebral palsy
C0009918  |  joint contracture
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0036439  |  scoliosis  |  1
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.)