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: neurological disease with abnormal eye movements (MONDO:0020261)
..Starting node ..rare strabismus and restriction syndrome ()
Child Nodes:
........essential strabismus ()
........syndrome with a symptomatic strabismus ()
........tolosa-Hunt syndrome ()
Sister Nodes:
..adult-onset autosomal dominant demyelinating leukodystrophy ()
..Alexander disease ()
..Kufor-Rakeb syndrome ()
..Pelizaeus-Merzbacher disease ()
..rare strabismus and restriction syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20251
Name:	rare strabismus and restriction syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal