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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Nystagmus, Congenital (D020417)
..Starting node ..X-Linked Infantile Nystagmus (C580539)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
..Foveal Hypoplasia, Isolated (C565005)
..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..Mental retardation Mietens Weber type (C537444)
..Microphthalmia, Isolated, with Cataract 2 (C565876)
..Nystagmus 1, congenital, X- linked (C537853)
..Nystagmus 2, congenital, autosomal dominant (C537854)
..Nystagmus 3, congenital, autosomal dominant (C537855)
..Nystagmus 4, congenital, autosomal dominant (C537856)
..NYSTAGMUS 5, CONGENITAL, X-LINKED (OMIM:300589)
..Nystagmus 5, Infantile Periodic Alternating (C564478)
..NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
..Nystagmus, Congenital Motor, Autosomal Recessive (C564938)
..O'Donnell Pappas syndrome (C537858)
..X-Linked Infantile Nystagmus (C580539)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11840
Name:	X-Linked Infantile Nystagmus
Definition:
Alternative IDs:
ParentIDs:	MESH:D020417\|MESH:D040181
TreeNumbers:	C10.292.562.675.300/C580539 \|C11.590.400.300/C580539 \|C16.320.322/C580539 \|C16.614.643/C580539
Synonyms:	Congenital Motor Nystagmus \|Frmd7-Related Infantile Nystagmus \|Idiopathic Infantile Nystagmus \|Nys1 \|X-Linked Congenital Nystagmus \|X-Linked Idiopathic Infantile Nystagmus
Slim Mappings:	Eye disease\|Genetic disease (inborn)\|Infant-newborn disease\|Nervous system disease
Reference:	MedGen: C580539 MeSH: C580539 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants