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: acquired metabolic disease (MONDO:0006504)
Parent Node: mineral metabolism disease (MONDO:0000226)
..Starting node ..acquired mineral metabolism disease ()
Child Nodes:
Sister Nodes:
..acquired mineral metabolism disease ()
..calcium metabolic disease ()
..iron metabolism disease ()
..phosphorus metabolism disease ()
..potassium deficiency disease ()
..sulfur metabolism disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24301
Name:	acquired mineral metabolism disease
Definition:	An instance of mineral metabolism disease that is acquired during the lifetime of the individual.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	acquired mineral metabolism disease; mineral metabolism disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal