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: Neuromuscular Diseases (D009468)
..Starting node ..Peripheral Nervous System Diseases (D010523)
Child 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)
Sister Nodes:
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..Cyclic Vomiting Syndrome with Neuromuscular Disease (C564022)
..Cyprus facial neuromusculoskeletal syndrome (C536229)
..Fatigue Syndrome, Chronic (D015673)
..GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy (C565544)
..GSD IV, Neuromuscular Form, Childhood (C565543)
..GSD IV, Neuromuscular Form, Congenital (C565542)
..GSD IV, Neuromuscular Form, Fatal Perinatal (C565541)
..Isaacs Syndrome (D020386)
..Motor Neuron Disease (D016472) 64
..Muscular Atrophy, Spinal (D009134) 33
..Muscular Diseases (D009135) 430
..Muscular Disorders, Atrophic (D020966) 120
..Neuromuscular Junction Diseases (D020511) 23
..Peripheral Nervous System Diseases (D010523) 294
..Poliomyelitis (D011051) 2
..Stiff-Person Syndrome (D016750)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8818
Name:	Peripheral Nervous System Diseases
Definition:	Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves.
Alternative IDs:
ParentIDs:	MESH:D009468
TreeNumbers:	C10.668.829
Synonyms:	Nerve Disease, Peripheral \|Nerve Diseases, Peripheral \|Neuropathy, Peripheral \|Peripheral Nerve Disease \|Peripheral Nerve Diseases \|Peripheral Nervous System Disease \|Peripheral Nervous System Disorders \|Peripheral Neuropathies \|Peripheral Neuropathy \|PNS Disease
Slim Mappings:	Nervous system disease
Reference:	MedGen: D010523 MeSH: D010523 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants