PedAM

Pediatric Disease Annotations & Medicines


	spastic diplegia

Disease ID	1393
Disease	spastic diplegia
Definition	Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. [HPO:curators]
Synonym	cerebral spastic infantile paralysis congenital spastic paralysis diplegia spastic diplegia, spastic diplegias, spastic infantile spastic cerebral palsy infantile spastic cerebral palsy (disorder) little dis little disease little's disease littles dis littles disease paralysis spastic congenital spastic diplegia (disorder) spastic diplegias spastic infantile paralysis
DOID	DOID:10965
UMLS	C0023882
SNOMED-CT	SNOMEDCT_US_2016_09_01:281411007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0007789 \| cerebral palsy \| 2 C0154694 \| spastic hemiplegia \| 1 C0039144 \| syringomyelia \| 1 C0206019 \| hiv encephalopathy \| 1 C0018991 \| hemiplegia \| 1 C0034372 \| quadriplegia \| 1 C0497327 \| dementia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:53) 4706 \| NDUFAB1 \| DISEASES 3028 \| HSD17B10 \| DISEASES 8086 \| AAAS \| DISEASES 10544 \| PROCR \| DISEASES 10084 \| PQBP1 \| DISEASES 54 \| ACP5 \| DISEASES 583 \| BBS2 \| DISEASES 6496 \| SIX3 \| DISEASES 2581 \| GALC \| DISEASES 25939 \| SAMHD1 \| DISEASES 29899 \| GPSM2 \| DISEASES 54504 \| CPVL \| DISEASES 775 \| CACNA1C \| DISEASES 5972 \| REN \| DISEASES 6567 \| SLC16A2 \| DISEASES 4838 \| NODAL \| DISEASES 152185 \| SPICE1 \| DISEASES 3251 \| HPRT1 \| DISEASES 5346 \| PLIN1 \| DISEASES 5354 \| PLP1 \| DISEASES 154 \| ADRB2 \| DISEASES 8436 \| SDPR \| DISEASES 686 \| BTD \| DISEASES 2720 \| GLB1 \| DISEASES 2348 \| FOLR1 \| DISEASES 124590 \| USH1G \| DISEASES 4723 \| NDUFV1 \| DISEASES 668 \| FOXL2 \| DISEASES 224 \| ALDH3A2 \| DISEASES 4983 \| OPHN1 \| DISEASES 26503 \| SLC17A5 \| DISEASES 51062 \| ATL1 \| DISEASES 23456 \| ABCB10 \| DISEASES 83881 \| MIXL1 \| DISEASES 383 \| ARG1 \| DISEASES 117145 \| THEM4 \| DISEASES 2516 \| NR5A1 \| DISEASES 3339 \| HSPG2 \| DISEASES 7102 \| TSPAN7 \| DISEASES 3704 \| ITPA \| DISEASES 7280 \| TUBB2A \| DISEASES 4099 \| MAG \| DISEASES 2643 \| GCH1 \| DISEASES 7849 \| PAX8 \| DISEASES 4204 \| MECP2 \| DISEASES 4049 \| LTA \| DISEASES 7086 \| TKT \| DISEASES 3925 \| STMN1 \| DISEASES 22930 \| RAB3GAP1 \| DISEASES 55250 \| ELP2 \| DISEASES 374308 \| PTCHD3 \| DISEASES 6091 \| ROBO1 \| DISEASES 10381 \| TUBB3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1393
Disease	spastic diplegia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0001257 \| Spasticity \| 2 HP:0001263 \| Developmental retardation \| 2 HP:0100021 \| Cerebral palsy \| 2 HP:0002445 \| Paralysis of all four limbs \| 1 HP:0002315 \| Headaches \| 1 HP:0003487 \| Extensor plantar reflexes \| 1 HP:0000726 \| Dementia \| 1 HP:0002301 \| Hemiplegia \| 1 HP:0011099 \| Spastic hemiparesis \| 1 HP:0007340 \| Lower limb weakness \| 1 HP:0003396 \| Syringomyelia \| 1

Disease ID	1393
Disease	spastic diplegia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0728731 \| prematurity C0231773 \| calcaneal gait C0221505 \| cerebral lesions
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.)

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