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: epilepsy syndrome (MONDO:0015650)
Parent Node: permanent neonatal diabetes mellitus (MONDO:0011643)
..Starting node ..DEND syndrome ()
Child Nodes:
........intermediate DEND syndrome ()
Sister Nodes:
..DEND syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19207
Name:	DEND syndrome
Definition:	DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	developmental delay-epilepsy-neonatal diabetes syndrome; K ATP associated developmental delay, epilepsy and neonatal diabetes
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal