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: Mercury Poisoning, Nervous System (D020262)
Parent Node: Peripheral Nervous System Diseases (D010523)
..Starting node ..Acrodynia (D000170)
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:	183
Name:	Acrodynia
Definition:	A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)
Alternative IDs:
ParentIDs:	MESH:D010523\|MESH:D020262
TreeNumbers:	C10.668.829.025 \|C10.720.475.600.150 \|C25.723.647.500.100
Synonyms:	Acrodynic Erythema \|Childhood Mercurialism, Chronic \|Childhood Mercurialisms, Chronic \|Chronic Childhood Mercurialism \|Chronic Childhood Mercurialisms \|Erythema, Acrodynic \|Feer Disease \|Feer's Disease \|Feers Disease \|Mercurialism, Chronic Childhood \|Pink Disease \|
Slim Mappings:	Nervous system disease
Reference:	MedGen: D000170 MeSH: D000170 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants