Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Ataxia (D001259)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Polyneuropathies (D011115)
..Starting node ..Ataxia and Polyneuropathy, Adult-Onset (C564020)
Child Nodes:
Sister Nodes:
..46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..Alcoholic Neuropathy (D020269)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic atrophy polyneuropathy deafness (C537129)
..Paraneoplastic Polyneuropathy (D020364)
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..POEMS Syndrome (D016878)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Polyradiculoneuropathy (D011129) 18
..Ribose 5-Phosphate Isomerase Deficiency (C563212)
..Severe infantile axonal neuropathy (C537593)
..Tangier Disease (D013631)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	978
Name:	Ataxia and Polyneuropathy, Adult-Onset
Definition:
Alternative IDs:
ParentIDs:	MESH:D001259\|MESH:D011115\|MESH:D028361
TreeNumbers:	C10.597.350.090/C564020 \|C10.668.829.800/C564020 \|C18.452.660/C564020 \|C23.888.592.350.090/C564020
Synonyms:
Slim Mappings:	Metabolic disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C564020 MeSH: C564020 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants