Disease browser and phenotype portal

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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: Paralysis (D010243)
..Starting node ..Pseudobulbar Palsy (D020828)
Child Nodes:
........Macrogyria, pseudobulbar palsy and mental retardation (C537722)
Sister Nodes:
..Facial Paralysis (D005158) 6
..Gastroparesis (D018589)
..Hemiplegia (D006429) 1
..Ophthalmoplegia (D009886) 41
..Paraplegia (D010264) 14
..Pseudobulbar Palsy (D020828) 1
..Quadriplegia (D011782) 4
..Respiratory Paralysis (D012133)
..Vocal Cord Paralysis (D014826) 6
..Wells Jankovic syndrome (C536692)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9410
Name:	Pseudobulbar Palsy
Definition:	A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)
Alternative IDs:
ParentIDs:	MESH:D010243
TreeNumbers:	C10.597.622.714 \|C23.888.592.636.711
Synonyms:	Bulbar Palsies, Spastic \|Bulbar Palsy, Spastic \|Dysarthria, Pseudobulbar \|Dysarthrias, Pseudobulbar \|Mutism, Pseudobulbar \|Mutisms, Pseudobulbar \|Palsies, Pseudobulbar \|Palsies, Spastic Bulbar \|Palsy, Pseudobulbar \|Palsy, Spastic Bulbar \|Paralyses, Pseudobulbar \|Pa
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D020828 MeSH: D020828 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants