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: Pain (D010146)
Parent Node: Peripheral Nervous System Diseases (D010523)
..Starting node ..Neuropathy, Painful (C564945)
Child Nodes:
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:

8008

Name:

Neuropathy, Painful

Definition:

Alternative IDs:

ParentIDs:

MESH:D010146|MESH:D010523

TreeNumbers:

C10.597.617/C564945 |C10.668.829/C564945 |C23.888.592.612/C564945 |C23.888.646/C564945

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C564945
MeSH: C564945
OMIM: 256870;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0007340	Lower limb muscle weakness
4	HP:0009830	Peripheral neuropathy
5	HP:0003202	Skeletal muscle atrophy

Disease Causing ClinVar Variants