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 monovalent inorganic cation concentration (HP:0010930)

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

..Starting node
..Increased intracellular sodium (HP:0003575)

Term ID:

3575

Name:

Increased intracellular sodium

Synonym:

High intracellular Na; Increased intracellular Na+ levels

Definition:

An abnormally increased sodium concentration in the cytosol.

Comments:

Reference:

HP:0003575

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypernatremia (HP:0003228)

Hyponatremia (HP:0002902)

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:0003575	HP:0003575	Increased intracellular sodium	0	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.	13
HP:0003575	HP:0003575	Increased intracellular sodium	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent	255

Genes (2) :RHAG SLC2A1

Diseases (2) :OMIM:185000 ORPHA:168577

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