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: Ear Diseases (D004427)
Parent Node: Sensation Disorders (D012678)
..Starting node ..Hearing Disorders (D006311)
Child Nodes:
........Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia (C580009)
........Hearing Loss (D034381) 397
........Hyperacusis (D012001)
........Ossicular Malformations, familial (C537142)
........Tinnitus (D014012) 1
Sister Nodes:
..Dizziness (D004244) 1
..Hearing Disorders (D006311) 403
..Olfaction Disorders (D000857) 4
..Posterior column ataxia (C536342)
..Somatosensory Disorders (D020886) 6
..Taste Disorders (D013651) 3
..Vision Disorders (D014786) 84
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4920
Name:	Hearing Disorders
Definition:	Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways.
Alternative IDs:
ParentIDs:	MESH:D004427\|MESH:D012678
TreeNumbers:	C09.218.458 \|C10.597.751.418 \|C23.888.592.763.393
Synonyms:	Distorted Hearing \|Dysacusis \|Hearing Disorder \|Hearing, Distorted \|Paracousis \|Paracusis
Slim Mappings:	Ear-nose-throat disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D006311 MeSH: D006311 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants