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: mitochondrial disease with hypertrophic cardiomyopathy (MONDO:0016327)
Parent Node: rare hereditary metabolic disease with peripheral neuropathy (MONDO:0016133)
Parent Node: syndromic hereditary optic neuropathy (MONDO:0018609)
Parent Node: unspecified inborn mitochondrial disorder (MONDO:0016803)
..Starting node ..optic atrophy-peripheral neuropathy-developmental delay syndrome ()
Child Nodes:
Sister Nodes:
..ethylmalonic encephalopathy () L: 00573;
..mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome () L: 00532;
..optic atrophy-peripheral neuropathy-developmental delay syndrome ()
..X-linked sideroblastic anemia with ataxia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	44652
Name:	optic atrophy-peripheral neuropathy-developmental delay syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Harel-Yoon syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal