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: Kufor-Rakeb syndrome (MONDO:0011706)
Parent Node: neuronal ceroid lipofuscinosis (MONDO:0016295)
..Starting node ..parkinsonism due to ATP13A2 deficiency ()
Child Nodes:
Sister Nodes:
..adult neuronal ceroid lipofuscinosis ()
..infantile neuronal ceroid lipofuscinosis ()
..juvenile neuronal ceroid lipofuscinosis ()
..late infantile neuronal ceroid lipofuscinosis ()
..parkinsonism due to ATP13A2 deficiency ()
..progressive myoclonic epilepsy type 3 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17809
Name:	parkinsonism due to ATP13A2 deficiency
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	CLN12 disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal