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, Sensorineural (D006319)
Parent Node:
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Peripheral Arterial Disease (D058729)
Parent Node:
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Polyneuropathies (D011115)
..Starting node
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Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)

       Child Nodes:



 Sister Nodes: 
..expand46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..expandAlcoholic Neuropathy (D020269)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandDeafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..expandHereditary Sensory and Autonomic Neuropathies (D009477) Child12
..expandHereditary Sensory and Motor Neuropathy (D015417) Child164
..expandLaryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..expandLEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..expandNeuropathy, Hereditary Sensory, Atypical (C564946)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandParaneoplastic Polyneuropathy (D020364)
..expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..expandPOEMS Syndrome (D016878)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPolyradiculoneuropathy (D011129) Child18
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)
..expandSevere infantile axonal neuropathy (C537593)
..expandTangier Disease (D013631)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3126
Name:Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease
Definition:
Alternative IDs:
ParentIDs:MESH:D006319|MESH:D011115|MESH:D058729
TreeNumbers:C09.218.458.341.887/C565120 |C10.597.751.418.341.887/C565120 |C10.668.829.800/C565120 |C14.907.137.126.307.500/C565120 |C14.907.617.671/C565120 |C23.888.592.763.393.341.887/C565120
Synonyms:
Slim Mappings:Cardiovascular disease|Ear-nose-throat disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C565120
MeSH: C565120
OMIM: 124950;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0008619Bilateral sensorineural hearing impairment
3 HP:0011120Concave nasal ridge
4 HP:0002315Headache
5 HP:0002922Increased CSF protein
6 HP:0001085Papilledema
7 HP:0004950Peripheral arterial stenosis
8 HP:0001271Polyneuropathy
9 HP:0001730Progressive hearing impairment
10 HP:0008043Retinal arteriolar constriction
11 HP:0000988Skin rash
Disease Causing ClinVar Variants