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: Cerebellar Ataxia (D002524)
Parent Node: Deafness (D003638)
Parent Node: Myoclonus (D009207)
..Starting node ..Myoclonus, Cerebellar Ataxia, and Deafness (C563549)
Child Nodes:
Sister Nodes:
..Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia (C566188)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Herrmann syndrome (C538113)
..Jankovic Rivera syndrome (C537563)
..Myoclonus, Cerebellar Ataxia, and Deafness (C563549)
..Nystagmus, Myoclonic (C564088)
..Opsoclonus-Myoclonus Syndrome (D053578) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7644

Name:

Myoclonus, Cerebellar Ataxia, and Deafness

Definition:

Alternative IDs:

ParentIDs:

MESH:D002524|MESH:D003638|MESH:D009207

TreeNumbers:

C09.218.458.341.186/C563549 |C10.228.140.252.190/C563549 |C10.597.350.090.500/C563549 |C10.597.350.500/C563549 |C10.597.751.418.341.186/C563549 |C23.888.592.350.090.200/C563549 |C23.888.592.350.500/C563549 |C23.888.592.763.393.341.186/C563549

Synonyms:

Slim Mappings:

Ear-nose-throat disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C563549
MeSH: C563549
OMIM: 159800;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001251	Ataxia
3	HP:0000365	Hearing impairment
4	HP:0001336	Myoclonus

Disease Causing ClinVar Variants