Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 urinary electrolyte concentration (HP:0012591)

Parent Node:
Abnormal urine magnesium concentration (HP:0012607)

..Starting node
..Hypermagnesiuria (HP:0012608)

Term ID:

12608

Name:

Hypermagnesiuria

Synonym:

Definition:

An increased concentration of magnesium the urine.

Comments:

Reference:

HP:0012608

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypomagnesiuria (HP:0012609)

Renal magnesium wasting (HP:0005567)

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:0012608	HP:0012608	Hypermagnesiuria	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	272
HP:0012608	HP:0012608	Hypermagnesiuria	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0012608	HP:0012608	Hypermagnesiuria	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.	42
HP:0012608	HP:0012608	Hypermagnesiuria	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	16

Genes (4) :CASR CLDN16 CLDN19 GNA11

Diseases (3) :ORPHA:428 OMIM:248250 OMIM:248190

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