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: lysosomal disease with epilepsy (MONDO:0016397)
Parent Node: sphingolipidosis (MONDO:0019255)
..Starting node ..sphingolipidosis with epilepsy ()
Child Nodes:
........encephalopathy due to prosaposin deficiency ()
........Fabry disease ()
........Farber lipogranulomatosis ()
........gangliosidosis ()
........Gaucher disease type II ()
........Gaucher disease type III ()
........Krabbe disease ()
........metachromatic leukodystrophy ()
........mucosulfatidosis ()
........Niemann-Pick disease type A ()
........Niemann-Pick disease type C ()
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:	18299
Name:	sphingolipidosis with epilepsy
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal