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: Peripheral Nervous System Diseases (D010523)
Parent Node: Polyradiculoneuropathy (D011129)
..Starting node ..Guillain-Barre Syndrome (D020275)
Child Nodes:
........Miller Fisher Syndrome (D019846)
Sister Nodes:
..Guillain-Barre Syndrome (D020275) 1
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Polyradiculoneuropathy, Chronic Inflammatory Demyelinating (D020277)
..Polyradiculopathy (D011128)
..Radiculoneuropathy, Fatal Neonatal (C564857)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4846

Name:

Guillain-Barre Syndrome

Definition:

An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)

Alternative IDs:

OMIM:139393

ParentIDs:

MESH:D010523|MESH:D011129

TreeNumbers:

C10.114.750.100 |C10.314.750.450 |C10.668.829.350 |C10.668.829.800.750.300 |C20.111.258.750.400

Synonyms:

Slim Mappings:

Immune system disease|Nervous system disease

Reference:

MedGen: D020275
MeSH: D020275
OMIM: 139393;

Genes: PMP22;

Phenotypes

HP:0007131

Acute demyelinating polyneuropathy

Disease Causing ClinVar Variants