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: Niemann-Pick disease type C (MONDO:0018982)
..Starting node ..Niemann-Pick disease type C, severe early infantile neurologic onset ()
Child Nodes:
Sister Nodes:
..Niemann-Pick disease type C, adult neurologic onset ()
..Niemann-Pick disease type C, juvenile neurologic onset ()
..Niemann-Pick disease type C, late infantile neurologic onset ()
..Niemann-Pick disease type C, severe early infantile neurologic onset ()
..Niemann-Pick disease type C, severe perinatal form ()
..Niemann-Pick disease, type C1 ()
..Niemann-Pick disease, type C2 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16307
Name:	Niemann-Pick disease type C, severe early infantile neurologic onset
Definition:
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal