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: inherited neurodegenerative disorder (MONDO:0024237)
Parent Node: primary optic atrophy (MONDO:0001084)
..Starting node ..hereditary optic atrophy ()
Child Nodes:
........autosomal dominant optic atrophy ()
........autosomal recessive optic atrophy ()
........autosomal recessive optic atrophy, OPA7 type ()
........Leber hereditary optic neuropathy () L: 00072;
........optic atrophy 2 ()
Sister Nodes:
..hereditary 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:	43878
Name:	hereditary optic atrophy
Definition:	A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Atrophies, hereditary optic; atrophy, hereditary optic; hereditary optic Atrophies; hereditary optic atrophy; optic atrophy, hereditary
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal