Human Phenotype Ontology

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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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal blood ion concentration (HP:0003111)

..Starting node
..Abnormal blood chloride concentration (HP:0011422)

Term ID:

11422

Name:

Abnormal blood chloride concentration

Synonym:

Abnormal blood Cl concentration; Abnormal blood Cl- concentration; Abnormality of chloride homeostasis

Definition:

An abnormality of chloride homeostasis or concentration in the body.

Comments:

Reference:

HP:0011422

Genes and Diseases:

Child Nodes:

........

Hypochloremia (HP:0003113)

........

Hyperchloremia (HP:0011423)

........

Elevated sweat chloride (HP:0012236)

Sister Nodes:

Abnormal blood cation concentration (HP:0010929)

Abnormal blood phosphate concentration (HP:0100529)

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:0011422	HP:0011422	Abnormal blood chloride concentration	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE		92
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID		118
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital		89
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC		199
HP:0011422	HP:0011422	Abnormal blood chloride concentration	0	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB		71
HP:0011422	HP:0003113	Hypochloremia	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0011422	HP:0003113	Hypochloremia	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	53
HP:0011422	HP:0003113	Hypochloremia	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0011422	HP:0003113	Hypochloremia	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	9
HP:0011422	HP:0003113	Hypochloremia	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0011422	HP:0003113	Hypochloremia	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	27
HP:0011422	HP:0011423	Hyperchloremia	1	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.	92
HP:0011422	HP:0003113	Hypochloremia	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0011422	HP:0011423	Hyperchloremia	1	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID	.	118
HP:0011422	HP:0003113	Hypochloremia	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient	.	6
HP:0011422	HP:0003113	Hypochloremia	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0011422	HP:0003113	Hypochloremia	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0011422	HP:0011423	Hyperchloremia	1	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.	199
HP:0011422	HP:0011423	Hyperchloremia	1	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB	.	71

Genes (11) :BSND CLCNKA CLCNKB CUL3 KCNJ1 KLHL3 MAGED2 SLC12A1 SLC26A3 WNK1 WNK4

Diseases (11) :OMIM:602522 ORPHA:89938 OMIM:613090 OMIM:614496 OMIM:241200 OMIM:614495 OMIM:300971 OMIM:601678 OMIM:214700 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.

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