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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Paraparesis (D020335)
..Starting node ..Paraparesis, Spastic (D020336)
Child Nodes:
........Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia (C564330)
........Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques (C564329)
........Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia (C566188)
........Gemignani syndrome (C537678)
........Multiple Exostoses with Spastic Tetraparesis (C563566)
........Spastic Paresis, Glaucoma, and Mental Retardation (C564809)
Sister Nodes:
..Paraparesis, Spastic (D020336) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8618
Name:	Paraparesis, Spastic
Definition:	Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
Alternative IDs:
ParentIDs:	MESH:D020335
TreeNumbers:	C10.597.636.500.500 \|C23.888.592.643.500.500
Synonyms:	Lower Extremity Weakness, Spastic \|Parapareses, Spastic \|Spastic Lower Extremity Weakness \|Spastic Parapareses \|Spastic Paraparesis
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D020336 MeSH: D020336 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants