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: cerebral lipidosis with dementia (MONDO:0020143)
Parent Node: infantile epilepsy syndrome (MONDO:0020071)
Parent Node: neuronal ceroid lipofuscinosis (MONDO:0016295)
Parent Node: progressive myoclonic epilepsy (MONDO:0020074)
..Starting node ..infantile neuronal ceroid lipofuscinosis ()
Child Nodes:
........congenital neuronal ceroid lipofuscinosis ()
........neuronal ceroid lipofuscinosis 1 ()
Sister Nodes:
..action myoclonus-renal failure syndrome ()
..adult neuronal ceroid lipofuscinosis ()
..early-onset Lafora body disease ()
..epilepsy, progressive myoclonic, 1B ()
..familial encephalopathy with neuroserpin inclusion bodies ()
..infantile neuronal ceroid lipofuscinosis ()
..juvenile neuronal ceroid lipofuscinosis ()
..Lafora disease ()
..late infantile neuronal ceroid lipofuscinosis ()
..MERRF syndrome () L: 00162;
..progressive myoclonic epilepsy type 3 ()
..progressive myoclonic epilepsy type 5 ()
..progressive myoclonic epilepsy type 6 ()
..progressive myoclonic epilepsy type 7 ()
..progressive myoclonic epilepsy type 8 ()
..progressive myoclonic epilepsy type 9 ()
..Unverricht-Lundborg syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19261
Name:	infantile neuronal ceroid lipofuscinosis
Definition:	Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Hagberg-Santavuori disease; INCL; infantile NCL; Santavuori disease; Santavuori-Haltia disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal