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 lipid storage disorder (MONDO:0019245)
..Starting node ..triglyceride storage disease ()
Child Nodes:
........triglyceride storage disease, type 1 ()
........triglyceride storage disease, type 2 ()
Sister Nodes:
..cerebral lipidosis with dementia ()
..lysosomal acid lipase deficiency ()
..neuronal ceroid lipofuscinosis ()
..neutral lipid storage disease ()
..sphingolipidosis ()
..triglyceride storage disease ()
..xanthomatosis (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	155
Name:	triglyceride storage disease
Definition:	An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inborn error of sequestering of triglyceride; inborn sequestering of triglyceride disorder; rare inborn error of sequestering of triglyceride; rare inborn error of sequestering of triglyceride
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: SLC4A1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal