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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

Disease Browser
Parent Node: Distal Myopathies (D049310)
Parent Node: Myoclonus (D009207)
..Starting node ..Jankovic Rivera syndrome (C537563)
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:	5941
Name:	Jankovic Rivera syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D009207\|MESH:D049310
TreeNumbers:	C05.651.534.500.074/C537563 \|C10.597.350.500/C537563 \|C10.668.491.175.500.074/C537563 \|C16.320.577.074/C537563 \|C23.888.592.350.500/C537563
Synonyms:	Hereditary myoclonus and progressive distal muscular atrophy \|Myoclonus, Hereditary, with Progressive Distal Muscular Atrophy
Slim Mappings:	Genetic disease (inborn)\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C537563 MeSH: C537563 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants