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: amblyopia (disease) (MONDO:0001020)
..Starting node ..disuse amblyopia ()
Child Nodes:
Sister Nodes:
..ametropic amblyopia ()
..disuse amblyopia ()
..suppression amblyopia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1022
Name:	disuse amblyopia
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	deprivation amblyopia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: PRKAR1A;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal