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: optic atrophy (MONDO:0003608)
..Starting node ..primary optic atrophy ()
Child Nodes:
........hereditary optic atrophy ()
Sister Nodes:
..glaucomatous atrophy of optic disc ()
..optic atrophy 4 ()
..osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ()
..partial optic atrophy ()
..primary optic atrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1084
Name:	primary optic atrophy
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CASP8; FAS; FASLG;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal