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:
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Hearing Loss (D034381)
Parent Node:
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Optic Atrophy (D009896)
Parent Node:
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Peripheral Nervous System Diseases (D010523)
..Starting node
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Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)

       Child Nodes:



 Sister Nodes: 
..expandAccessory deep peroneal nerve (C536001)
..expandAcrodynia (D000170)
..expandAmyloid Neuropathies (D017772) Child3
..expandBrachial Plexus Neuropathies (D020516) Child4
..expandCataract ataxia deafness (C538283)
..expandComplex Regional Pain Syndromes (D020918) Child2
..expandCorpus callosum agenesis neuronopathy (C536446)
..expandDeafness, X-Linked 5 (C564472)
..expandDiabetic Neuropathies (D003929) Child2
..expandGiant Axonal Neuropathy (D056768) Child1
..expandGuillain-Barre Syndrome (D020275) Child1
..expandHand-Arm Vibration Syndrome (D053421)
..expandHypertrophic Neuropathy And Cataract (C565490)
..expandInherited Peripheral Neuropathy (C548028)
..expandIsaacs Syndrome (D020386)
..expandMononeuropathies (D020422) Child15
..expandNavajo neurohepatopathy (C538344) Child1
..expandNerve Compression Syndromes (D009408) Child13
..expandNeuralgia (D009437) Child6
..expandNeuritis (D009443) Child3
..expandNeurofibromatosis 1 (D009456) Child1
..expandNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
..expandNeuropathy, Painful (C564945)
..expandNeuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine (C563516)
..expandOptic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..expandPain Insensitivity, Congenital (D000699) Child2
..expandPeripheral Nerve Injuries (D059348)
..expandPeripheral Nervous System Neoplasms (D010524) Child25
..expandPeripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..expandPolyneuropathies (D011115) Child200
..expandRadiculopathy (D011843)
..expandSacral plexopathy (C537224)
..expandSpinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..expandTarlov Cysts (D052958)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8282
Name:Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
Definition:
Alternative IDs:
ParentIDs:MESH:D009896|MESH:D010523|MESH:D034381
TreeNumbers:C09.218.458.341/C563497 |C10.292.700.225/C563497 |C10.597.751.418.341/C563497 |C10.668.829/C563497 |C11.640.451/C563497 |C23.888.592.763.393.341/C563497
Synonyms:
Slim Mappings:Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C563497
MeSH: C563497
OMIM: 165199;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002522Areflexia of lower limbs
3 HP:0002166Impaired vibration sensation in the lower limbs
4 HP:0000648Optic atrophy
5 HP:0000408Progressive sensorineural hearing impairment
6 HP:0000505Visual impairment
Disease Causing ClinVar Variants