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 ion concentration (HP:0003111)

Parent Node:
Abnormal blood chloride concentration (HP:0011422)

..Starting node
..Hyperchloremia (HP:0011423)

Term ID:

11423

Name:

Hyperchloremia

Synonym:

Definition:

An abnormally increased chloride concentration in the blood.

Comments:

Reference:

HP:0011423

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated sweat chloride (HP:0012236)

Hypochloremia (HP:0003113)

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:0011423	HP:0011423	Hyperchloremia	0	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.	92
HP:0011423	HP:0011423	Hyperchloremia	0	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID	.	118
HP:0011423	HP:0011423	Hyperchloremia	0	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.	199
HP:0011423	HP:0011423	Hyperchloremia	0	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB	.	71

Genes (4) :CUL3 KLHL3 WNK1 WNK4

Diseases (4) :OMIM:614496 OMIM:614495 OMIM:614492 OMIM:614491

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