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: familial primary hypomagnesemia (MONDO:0018100)
..Starting node ..familial primary hypomagnesemia with hypocalcuria ()
Child Nodes:
........renal hypomagnesemia 2 ()
Sister Nodes:
..familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis ()
..familial primary hypomagnesemia with hypocalcuria ()
..familial primary hypomagnesemia with normocalcuria ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17625
Name:	familial primary hypomagnesemia with hypocalcuria
Definition:
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal