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: Respiration Disorders (D012120)
Parent Node: Signs and Symptoms, Respiratory (D012818)
Parent Node: Voice Disorders (D014832)
..Starting node ..Hoarseness (D006685)
Child Nodes:
........Asrar Facharzt Haque syndrome (C535391)
........Lipoid Proteinosis of Urbach and Wiethe (D008065)
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:	5232
Name:	Hoarseness
Definition:	An unnaturally deep or rough quality of voice.
Alternative IDs:
ParentIDs:	MESH:D012120\|MESH:D012818\|MESH:D014832
TreeNumbers:	C08.360.940.490 \|C08.618.490 \|C09.400.940.490 \|C10.597.975.550 \|C23.888.592.979.550 \|C23.888.852.490
Synonyms:	Hoarsenesses \|Hoarseness, Neurogenic \|Hoarseness of Voice \|Hoarseness, Voice \|Neurogenic Hoarseness \|Neurogenic Hoarsenesses \|Voice Hoarseness
Slim Mappings:	Ear-nose-throat disease\|Nervous system disease\|Respiratory tract disease\|Signs and symptoms
Reference:	MedGen: D006685 MeSH: D006685 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants