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encyclopedia of Rare Disease Annotation for Precision Medicine

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	spastic quadriplegia

Disease ID	1837
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	DOID:10970
UMLS	C0426970
SNOMED-CT	SNOMEDCT_US_2016_09_01:192965001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0162429 \| malnourished \| 1 C0020255 \| hydrocephalus \| 1 C0039614 \| tetanus \| 1 C0020757 \| ichthyosis \| 1 C0007789 \| cerebral palsy \| 1 C0023882 \| spastic diplegia \| 1 C0036439 \| scoliosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:28) 26090 \| ABHD12 \| 3.282 \| DISEASES 224 \| ALDH3A2 \| 3.527 \| DISEASES 51062 \| ATL1 \| 2.544 \| DISEASES 554 \| AVPR2 \| 1.471 \| DISEASES 682 \| BSG \| 1.382 \| DISEASES 1282 \| COL4A1 \| 2.21 \| DISEASES 6785 \| ELOVL4 \| 3.706 \| DISEASES 2335 \| FN1 \| 1.604 \| DISEASES 2517 \| FUCA1 \| 3.009 \| DISEASES 8443 \| GNPAT \| 3.002 \| DISEASES 3033 \| HADH \| 2.26 \| DISEASES 102723508 \| KANTR \| 1.613 \| DISEASES 4158 \| MC2R \| 2.459 \| DISEASES 114614 \| MIR155HG \| 2.302 \| DISEASES 4338 \| MOCS2 \| 3.315 \| DISEASES 4586 \| MUC5AC \| 1.165 \| DISEASES 4588 \| MUC6 \| 1.75 \| DISEASES 10763 \| NES \| 1.137 \| DISEASES 8654 \| PDE5A \| 1.147 \| DISEASES 10908 \| PNPLA6 \| 2.102 \| DISEASES 374308 \| PTCHD3 \| 2.538 \| DISEASES 51091 \| SEPSECS \| 3.426 \| DISEASES 26503 \| SLC17A5 \| 2.055 \| DISEASES 6709 \| SPTAN1 \| 3.453 \| DISEASES 6711 \| SPTBN1 \| 1.616 \| DISEASES 6812 \| STXBP1 \| 1.004 \| DISEASES 6904 \| TBCD \| 3.452 \| DISEASES 117145 \| THEM4 \| 2.726 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1837
Disease	spastic quadriplegia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0001257 \| Spasticity \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0011344 \| Severe global developmental delay \| 1 HP:0008064 \| Ichthyosis \| 1 HP:0001249 \| Mental retardation \| 1 HP:0002650 \| Scoliosis \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0002607 \| Anal incontinence \| 1 HP:0001264 \| Spastic diplegia \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0001347 \| Hyperreflexia \| 1

Disease ID	1837
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.)

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	1837
Disease	spastic quadriplegia
Case	(Waiting for update.)

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