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: Articulation Disorders (D001184)
..Starting node ..Dysarthria (D004401)
Child Nodes:
........Auditory perceptual impairment (C538436)
........Bahemuka Brown syndrome (C537797)
........Fitzsimmons-Guilbert syndrome (C537938)
........Foix Chavany Marie syndrome (C537069)
........Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)
........Worster Drought syndrome (C536747)
Sister Nodes:
..Dysarthria (D004401) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3500
Name:	Dysarthria
Definition:	Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
Alternative IDs:
ParentIDs:	MESH:D001184
TreeNumbers:	C10.597.606.150.500.800.150.200 \|C23.888.592.604.150.500.800.150.200
Synonyms:	Dysarthoses \|Dysarthosis \|Dysarthria, Flaccid \|Dysarthria, Guttural \|Dysarthria, Mixed \|Dysarthrias \|Dysarthria, Scanning \|Dysarthrias, Flaccid \|Dysarthrias, Guttural \|Dysarthrias, Mixed \|Dysarthria, Spastic \|Dysarthrias, Scanning \|Dysarthrias, Spastic \|Flaccid Dysar
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D004401 MeSH: D004401 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants