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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: Myoclonus (D009207)
Parent Node: Nystagmus, Pathologic (D009759)
..Starting node ..Nystagmus, Myoclonic (C564088)
Child Nodes:
Sister Nodes:
..Episodic ataxia with nystagmus (C535506)
..Hereditary vertical nystagmus (C537857)
..Neuhauser Daly Magnelli syndrome (C536406)
..Nystagmus, Congenital (D020417) 17
..Nystagmus, Myoclonic (C564088)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Split hand split foot nystagmus (C537319)
..Zonular cataract and nystagmus (C536727)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8150

Name:

Nystagmus, Myoclonic

Definition:

Alternative IDs:

ParentIDs:

MESH:D009207|MESH:D009759

TreeNumbers:

C10.292.562.675/C564088 |C10.597.350.500/C564088 |C11.590.400/C564088 |C23.888.592.350.500/C564088

Synonyms:

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564088
MeSH: C564088
OMIM: 310800;

Genes:

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001336	Myoclonus
3	HP:0000639	Nystagmus

Disease Causing ClinVar Variants