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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   spastic hemiplegia
  

Disease ID 1896
Disease spastic hemiplegia
Definition
A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.
Synonym
hemiplegia, spastic
hemiplegias, spastic
spastic hemiparesis
spastic hemiplegia (disorder)
spastic hemiplegia and hemiparesis affecting unspecified side
spastic hemiplegia, affecting unspecified side
spastic hemiplegias
spstc hmiplga unspf side
DOID
UMLS
C0154694
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0023882  |  spastic diplegia  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:28)
56  |  ACRV1  |  3.844  |  DISEASES
161823  |  ADAL  |  4.383  |  DISEASES
224  |  ALDH3A2  |  2.684  |  DISEASES
10018  |  BCL2L11  |  2.864  |  DISEASES
966  |  CD59  |  1.441  |  DISEASES
1282  |  COL4A1  |  3.326  |  DISEASES
1284  |  COL4A2  |  2.793  |  DISEASES
1363  |  CPE  |  2.14  |  DISEASES
2036  |  EPB41L1  |  2.203  |  DISEASES
26190  |  FBXW2  |  1.304  |  DISEASES
8522  |  GAS7  |  3.289  |  DISEASES
151306  |  GPBAR1  |  2.248  |  DISEASES
164045  |  HFM1  |  3.812  |  DISEASES
102723508  |  KANTR  |  2.516  |  DISEASES
54900  |  LAX1  |  2.142  |  DISEASES
4000  |  LMNA  |  1.542  |  DISEASES
4524  |  MTHFR  |  2.18  |  DISEASES
4624  |  MYH6  |  2.274  |  DISEASES
5155  |  PDGFB  |  1.474  |  DISEASES
10687  |  PNMA2  |  2.171  |  DISEASES
5888  |  RAD51  |  1.44  |  DISEASES
80320  |  SP6  |  2.516  |  DISEASES
100131390  |  SP9  |  3.202  |  DISEASES
27286  |  SRPX2  |  2.522  |  DISEASES
6996  |  TDG  |  2.99  |  DISEASES
8742  |  TNFSF12  |  2.155  |  DISEASES
7156  |  TOP3A  |  2.387  |  DISEASES
7102  |  TSPAN7  |  1.701  |  DISEASES
Locus(Waiting for update.)
Disease ID 1896
Disease spastic hemiplegia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:9)
HP:0001297  |  Cerebral vascular events  |  6
HP:0001257  |  Spasticity  |  4
HP:0012531  |  Pain  |  3
HP:0030834  |  Shoulder pain  |  2
HP:0001264  |  Spastic diplegia  |  1
HP:0001239  |  Wrist flexion deformity  |  1
HP:0003487  |  Extensor plantar reflexes  |  1
HP:0001342  |  Intracerebral hemorrhage  |  1
HP:0001762  |  Talipes equinovarus  |  1
Disease ID 1896
Disease spastic hemiplegia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C0423670  |  shoulder pain
C0235169  |  excitability
C0014544  |  epilepsy
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0037011  |  shoulder pain  |  2
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total 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.)
Disease ID 1896
Disease spastic hemiplegia
Case(Waiting for update.)