Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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

Disease Browser
Parent Node: Deafness (D003638)
Parent Node: Epilepsies, Myoclonic (D004831)
..Starting node ..Deafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
Child Nodes:
Sister Nodes:
..Ataxia with Myoclonic Epilepsy and Presenile Dementia (C565933)
..Deafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
..EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
..Epilepsy, Familial Adult Myoclonic, 3 (C567098)
..Epilepsy, Myoclonic, Benign Adult Familial, Type 1 (C563399)
..Epilepsy, Myoclonic, Benign Adult Familial, Type 2 (C564313)
..Familial encephalopathy with neuroserpin inclusion bodies (C536841)
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Hydroxylysinuria (C565502)
..Myoclonic Epilepsies, Progressive (D020191) 10
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
..Myoclonic Epilepsy, Hartung Type (C563550)
..Myoclonic Epilepsy, Juvenile (D020190)
..Photoparoxysmal Response 3 (C563695)
..Spastic Paraplegia With Myoclonic Epilepsy (C564810)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3102

Name:

Deafness, Congenital, and Familial Myoclonic Epilepsy

Definition:

Alternative IDs:

ParentIDs:

MESH:D003638|MESH:D004831

TreeNumbers:

C09.218.458.341.186/C565649 |C10.228.140.490.250/C565649 |C10.597.751.418.341.186/C565649 |C23.888.592.763.393.341.186/C565649

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C565649
MeSH: C565649
OMIM: 220300;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002123	Generalized myoclonic seizure
3	HP:0000365	Hearing impairment

Disease Causing ClinVar Variants