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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Ataxia (D001259)
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Cataract (D002386)
Parent Node:
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Hearing Loss, Sensorineural (D006319)
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Peripheral Nervous System Diseases (D010523)
..Starting node
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Cataract ataxia deafness (C538283)

       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:1818
Name:Cataract ataxia deafness
Definition:
Alternative IDs:
ParentIDs:MESH:D001259|MESH:D002386|MESH:D006319|MESH:D010523
TreeNumbers:C09.218.458.341.887/C538283 |C10.597.350.090/C538283 |C10.597.751.418.341.887/C538283 |C10.668.829/C538283 |C11.510.245/C538283 |C23.888.592.350.090/C538283 |C23.888.592.763.393.341.887/C538283
Synonyms:Begeer syndrome |Cataract-ataxia-deafness-retardation syndrome |Cataract ataxia deafness syndrome |Polyneuropathy, cataract, deafness syndrome |Polyneuropathy-Cataract-Deafness Syndrome
Slim Mappings:Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C538283
MeSH: C538283
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants