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: autosomal dominant disease (MONDO:0000426)
Parent Node: hereditary neoplastic syndrome (MONDO:0015356)
Parent Node: inherited neurodegenerative disorder (MONDO:0024237)
Parent Node: neurocutaneous syndrome (MONDO:0042983)
..Starting node ..tuberous sclerosis ()
Child Nodes:
........tuberous sclerosis 1 ()
........tuberous sclerosis 2 ()
Sister Nodes:
..ataxia telangiectasia ()
..neurocutaneous melanocytosis ()
..neurocutaneous syndrome with epilepsy ()
..neurofibromatosis ()
..nevoid basal cell carcinoma syndrome ()
..phakomatosis pigmentokeratotica ()
..phakomatosis pigmentovascularis ()
..phakomatosis with eye involvement ()
..tuberous sclerosis ()
..von Hippel-Lindau disease ()
..Wyburn-Mason syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1734
Name:	tuberous sclerosis
Definition:	Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adenoma sebaceum; adenoma sebaceum syndrome; Bourneville disease; Bourneville Phacomatosis; Bourneville phakomatosis; Bourneville pringle disease; Bourneville pringle's disease; Bourneville syndrome; Bourneville's disease; bourneville's disease; Bourneville's syndrome; Bourneville-pringle disease; B
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: TNNC1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal