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

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: Peripheral Nervous System Diseases (D010523)
..Starting node ..Polyneuropathies (D011115)
Child 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)
Sister Nodes:
..Accessory deep peroneal nerve (C536001)
..Acrodynia (D000170)
..Amyloid Neuropathies (D017772) 3
..Brachial Plexus Neuropathies (D020516) 4
..Cataract ataxia deafness (C538283)
..Complex Regional Pain Syndromes (D020918) 2
..Corpus callosum agenesis neuronopathy (C536446)
..Deafness, X-Linked 5 (C564472)
..Diabetic Neuropathies (D003929) 2
..Giant Axonal Neuropathy (D056768) 1
..Guillain-Barre Syndrome (D020275) 1
..Hand-Arm Vibration Syndrome (D053421)
..Hypertrophic Neuropathy And Cataract (C565490)
..Inherited Peripheral Neuropathy (C548028)
..Isaacs Syndrome (D020386)
..Mononeuropathies (D020422) 15
..Navajo neurohepatopathy (C538344) 1
..Nerve Compression Syndromes (D009408) 13
..Neuralgia (D009437) 6
..Neuritis (D009443) 3
..Neurofibromatosis 1 (D009456) 1
..NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
..Neuropathy, Painful (C564945)
..Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine (C563516)
..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..Pain Insensitivity, Congenital (D000699) 2
..Peripheral Nerve Injuries (D059348)
..Peripheral Nervous System Neoplasms (D010524) 25
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..Polyneuropathies (D011115) 200
..Radiculopathy (D011843)
..Sacral plexopathy (C537224)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Tarlov Cysts (D052958)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9099
Name:	Polyneuropathies
Definition:	Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance.
Alternative IDs:
ParentIDs:	MESH:D010523
TreeNumbers:	C10.668.829.800
Synonyms:	Acquired Polyneuropathies \|Acquired Polyneuropathy \|Critical Illness Polyneuropathies \|Critical Illness Polyneuropathy \|Familial Polyneuropathies \|Familial Polyneuropathy \|Inherited Polyneuropathies \|Inherited Polyneuropathy \|Motor Polyneuropathies \|Motor Polyneu
Slim Mappings:	Nervous system disease
Reference:	MedGen: D011115 MeSH: D011115 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants