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:
expandAtaxia (D001259)
Parent Node:
expandTinnitus (D014012)
Parent Node:
expandVertigo (D014717)
..Starting node
..expandEpisodic Ataxia, Type 3 (C564697)

       Child Nodes:



 Sister Nodes: 
..expandBenign Paroxysmal Positional Vertigo (D065635)
..expandEpisodic Ataxia, Type 3 (C564697)
..expandVertigo, Benign Recurrent (C562859)
..expandVertigo, Benign Recurrent, 1 (C567620)
..expandVertigo, Benign Recurrent, 2 (C567749)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3925
Name:Episodic Ataxia, Type 3
Definition:
Alternative IDs:OMIM:606554
ParentIDs:MESH:D001259|MESH:D014012|MESH:D014717
TreeNumbers:C09.218.458.670/C564697 |C09.218.568.900.883/C564697 |C10.597.350.090/C564697 |C10.597.751.418.670/C564697 |C10.597.951/C564697 |C23.888.592.350.090/C564697 |C23.888.592.763.393.670/C564697 |C23.888.592.958/C564697
Synonyms:Ataxia, Episodic, With Vertigo And Tinnitus |EA3
Slim Mappings:Ear-nose-throat disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C564697
MeSH: C564697
OMIM: 606554;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003674Onset
3 HP:0000651Diplopia
4 HP:0002131Episodic ataxia
5 HP:0002315Headache
6 HP:0001324Muscle weakness
7 HP:0002411Myokymia
8 HP:0002018Nausea
9 HP:0000360Tinnitus
10 HP:0002321Vertigo
11 HP:0002013Vomiting
Disease Causing ClinVar Variants