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: amyotrophic lateral sclerosis (MONDO:0004976)
..Starting node ..amyotrophic lateral sclerosis type 7 ()
Child Nodes:
Sister Nodes:
..amyotrohpic lateral sclerosis type 22 ()
..amyotrophic lateral sclerosis type 21 ()
..amyotrophic lateral sclerosis type 23 ()
..amyotrophic lateral sclerosis type 3 ()
..amyotrophic lateral sclerosis type 7 ()
..amyotrophic lateral sclerosis type 8 ()
..amyotrophic lateral sclerosis type 9 ()
..amyotrophic lateral sclerosis with polyglucosan bodies ()
..amyotrophic lateral sclerosis, susceptibility to, 24 ()
..familial amyotrophic lateral sclerosis ()
..progressive muscular atrophy ()
..sporadic amyotrophic lateral sclerosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	11952
Name:	amyotrophic lateral sclerosis type 7
Definition:
Alternative IDs:	608031
ParentIDs:
TreeNumbers:
Synonyms:	ALS7; amyotrophic lateral sclerosis 7; amyotrophic lateral sclerosis 7; ALS7
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: 608031; MSeqDR : Genes: ALS7;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal