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: mineral metabolism disease (MONDO:0000226)
..Starting node ..calcium metabolic disease ()
Child Nodes:
........autosomal dominant hypocalcemia ()
........calcinosis ()
........hypercalcemia disease ()
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:	5557
Name:	calcium metabolic disease
Definition:	Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	calcium metabolism disease; calcium metabolism disorder; disorder of calcium metabolism
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal