Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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
..Renal magnesium wasting (HP:0005567)

Term ID:

5567

Name:

Renal magnesium wasting

Synonym:

Definition:

High urine magnesium in the presence of hypomagnesemia.

Comments:

Reference:

HP:0005567

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypermagnesiuria (HP:0012608)

Hypomagnesiuria (HP:0012609)

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:0005567	HP:0005567	Renal magnesium wasting	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0005567	HP:0005567	Renal magnesium wasting	0	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability	HP:0040282 - Frequent	4
HP:0005567	HP:0005567	Renal magnesium wasting	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0005567	HP:0005567	Renal magnesium wasting	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.	42
HP:0005567	HP:0005567	Renal magnesium wasting	0	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal	.	17
HP:0005567	HP:0005567	Renal magnesium wasting	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0005567	HP:0005567	Renal magnesium wasting	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0005567	HP:0005567	Renal magnesium wasting	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.	145

Genes (7) :ATP1A1 CLDN16 CLDN19 FXYD2 IFT122 KCNJ10 SLC12A3

Diseases (8) :OMIM:618314 ORPHA:564178 OMIM:248250 OMIM:248190 OMIM:154020 OMIM:218330 ORPHA:199343 OMIM:263800

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen