MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: congenital nervous system disorder (MONDO:0002320)
Parent Node: pathologic nystagmus (MONDO:0004843)
..Starting node ..congenital nystagmus ()
Child Nodes:
........NYS2 ()
........NYS3 ()
........NYS4 ()
........NYS5 ()
........NYS7 ()
........nystagmus 1, congenital, X-linked ()
........nystagmus 6, congenital, X-linked ()
........nystagmus, congenital, autosomal recessive ()
........nystagmus, hereditary vertical ()
........nystagmus, myoclonic ()
Sister Nodes:
..congenital nystagmus ()
..dissociated nystagmus ()
..spontaneous ocular nystagmus ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5712
Name:	congenital nystagmus
Definition:	Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	congenital pathologic nystagmus; nystagmus; nystagmus, congenital
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal