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 normocalcuria ()
Child Nodes:
........familial primary hypomagnesemia with normocalciuria and normocalcemia ()
........intestinal hypomagnesemia 1 ()
........isolated autosomal dominant hypomagnesemia, Glaudemans type ()
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:	17626
Name:	familial primary hypomagnesemia with normocalcuria
Definition:	Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms).
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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