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 blood monovalent inorganic cation concentration (HP:0010930)

Parent Node:
Abnormal blood sodium concentration (HP:0010931)

..Starting node
..Hypernatremia (HP:0003228)

Term ID:

3228

Name:

Hypernatremia

Synonym:

High blood sodium levels

Definition:

An abnormally increased sodium concentration in the blood.

Comments:

Reference:

HP:0003228

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyponatremia (HP:0002902)

Increased intracellular sodium (HP:0003575)

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:0003228	HP:0003228	Hypernatremia	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0003228	HP:0003228	Hypernatremia	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040281 - Very frequent	75
HP:0003228	HP:0003228	Hypernatremia	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0003228	HP:0003228	Hypernatremia	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0003228	HP:0003228	Hypernatremia	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040281 - Very frequent	67
HP:0003228	HP:0003228	Hypernatremia	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.	16
HP:0003228	HP:0003228	Hypernatremia	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0003228	HP:0003228	Hypernatremia	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040282 - Frequent	74
HP:0003228	HP:0003228	Hypernatremia	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1

Genes (7) :AQP2 ARNT2 AVPR2 DSG1 FGFR1 SLC5A1 SYK

Diseases (8) :OMIM:125800 ORPHA:223 OMIM:615926 OMIM:304800 OMIM:615508 OMIM:615465 ORPHA:35710 OMIM:619381

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