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: Voice Disorders (D014832)
..Starting node ..Dysphonia (D055154)
Child Nodes:
........Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
Sister Nodes:
..Aphonia (D001044)
..Dysphonia (D055154) 1
..Hoarseness (D006685) 2
..Whispering dysphonia, hereditary (C536698)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3541
Name:	Dysphonia
Definition:	Difficulty and/or pain in PHONATION or speaking.
Alternative IDs:
ParentIDs:	MESH:D014832
TreeNumbers:	C08.360.940.325 \|C09.400.940.325 \|C10.597.975.325 \|C23.888.592.979.325
Synonyms:	Dysphonia, Hyperkinetic \|Dysphonia, Organic Tremor \|Dysphonia, Spastic \|Hyperkinetic Dysphonia \|Neurologic Adducter Spastic Dysphonia \|Organic Tremor Dysphonia \|Phonation Disorder \|Phonation Disorders \|Spastic Dysphonia \|Spastic Dysphonia, Neurologic Adducter
Slim Mappings:	Ear-nose-throat disease\|Nervous system disease\|Respiratory tract disease\|Signs and symptoms
Reference:	MedGen: D055154 MeSH: D055154 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants