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: metabolic disease with corneal opacity (MONDO:0020279)
Parent Node: oculomotor apraxia or related oculomotor disease (MONDO:0020258)
Parent Node: sphingolipidosis (MONDO:0019255)
..Starting node ..Gaucher disease ()
Child Nodes:
........atypical Gaucher disease due to saposin C deficiency ()
........Gaucher disease perinatal lethal ()
........Gaucher disease type I ()
........Gaucher disease type II ()
........Gaucher disease type III ()
........Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome ()
Sister Nodes:
..autosomal recessive cerebellar ataxia with late-onset spasticity ()
..Gaucher disease ()
..Niemann-Pick disease ()
..sea-blue histiocyte syndrome ()
..sphingolipidosis with epilepsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18150
Name:	Gaucher disease
Definition:	Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	acid beta-glucosidase deficiency; acute cerebral Gaucher disease; cerebroside lipidosis syndrome; Gaucher disease; Gaucher splenomegaly; Gaucher syndrome; Gaucher's disease; glocucerebrosidase deficiency; glucocerebrosidase deficiency; glucocerebrosidosis; glucosyl cerebroside lipidosis; glucosylcer
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal