MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Leber plus disease (MONDO:0020478)
..Starting node ..optic atrophy with demyelinating disease of CNS ()
Child Nodes:
Sister Nodes:
..Leber optic atrophy and dystonia () L: 00149;
..optic atrophy with demyelinating disease of CNS () L: 00656;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8132

Name:

optic atrophy with demyelinating disease of CNS

Definition:

Alternative IDs:

165200

ParentIDs:

TreeNumbers:

Synonyms:

optic atrophy with demyelinating disease of CNS

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 165200;
MSeqDR : 00656;
Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001251	Ataxia
3	HP:0007305	CNS demyelination
4	HP:0001260	Dysarthria NAMDC: Dysarthria
5	HP:0001269	Hemiparesis
6	HP:0000648	Optic atrophy
7	HP:0100653	Optic neuritis
8	HP:0011096	Peripheral demyelination

Disease Causing ClinVar Variants

MSeqDR Portal