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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: Cataract (D002386)
Parent Node: Nystagmus, Pathologic (D009759)
..Starting node ..Zonular cataract and nystagmus (C536727)
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:	11878
Name:	Zonular cataract and nystagmus
Definition:
Alternative IDs:
ParentIDs:	MESH:D002386\|MESH:D009759
TreeNumbers:	C10.292.562.675/C536727 \|C11.510.245/C536727 \|C11.590.400/C536727
Synonyms:	Nystagmus with congenital zonular cataract
Slim Mappings:	Eye disease\|Nervous system disease
Reference:	MedGen: C536727 MeSH: C536727 OMIM: 315000; Genes:
Phenotypes
Disease Causing ClinVar Variants