Human Phenotype Ontology

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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

Grandparent Node:
Abnormal blood inorganic cation concentration (HP:0010927)

Parent Node:
Abnormal magnesium concentration (HP:0004921)

..Starting node
..Hypermagnesemia (HP:0002918)

Term ID:

2918

Name:

Hypermagnesemia

Synonym:

High blood magnesium levels; High blood Mg levels

Definition:

An abnormally increased magnesium concentration in the blood.

Comments:

Reference:

HP:0002918

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypomagnesemia (HP:0002917)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002918	HP:0002918	Hypermagnesemia	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0002918	HP:0002918	Hypermagnesemia	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0002918	HP:0002918	Hypermagnesemia	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0002918	HP:0002918	Hypermagnesemia	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0002918	HP:0002918	Hypermagnesemia	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0002918	HP:0002918	Hypermagnesemia	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II		16
HP:0002918	HP:0002918	Hypermagnesemia	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145

Genes (7) :ALDOB AP2S1 CASR CLCNKB CLDN10 GNA11 SLC12A3

Diseases (6) :ORPHA:469 OMIM:600740 OMIM:145980 ORPHA:358 OMIM:617671 OMIM:145981

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.