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: muscular dystrophy (MONDO:0020121)
..Starting node ..Fukuda-Miyanomae-Nakata syndrome ()
Child Nodes:
Sister Nodes:
..congenital muscular dystrophy ()
..distal myopathy ()
..Fukuda-Miyanomae-Nakata syndrome ()
..Hauptmann-Thannhauser muscular dystrophy ()
..muscular dystrophy, Barnes type ()
..muscular dystrophy, cardiac type ()
..muscular dystrophy, Hemizygous lethal type ()
..muscular dystrophy, Mabry type ()
..muscular dystrophy, progressive Pectorodorsal ()
..progressive muscular dystrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	23204
Name:	Fukuda-Miyanomae-Nakata syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Cerebromuscular dystrophy, Fukuyama type; FCMD; Fukuyama type muscular dystrophy; muscular dystrophy, congenital progressive, with mental retardation; muscular dystrophy, congenital, Fukuyama type; muscular dystrophy, congenital, with central nervous system involvement
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal