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 urinary electrolyte concentration (HP:0012591)

Parent Node:
Abnormal urine chloride concentration (HP:0012600)

..Starting node
..Hyperchloriduria (HP:0002914)

Term ID:

2914

Name:

Hyperchloriduria

Synonym:

Increased urinary chloride

Definition:

An increased concentration of chloride in the urine.

Comments:

Reference:

HP:0002914

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypochloriduria (HP:0012601)

Renal chloride wasting (HP:0012602)

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:0002914	HP:0002914	Hyperchloriduria	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0002914	HP:0002914	Hyperchloriduria	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0002914	HP:0002914	Hyperchloriduria	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0002914	HP:0002914	Hyperchloriduria	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0002914	HP:0002914	Hyperchloriduria	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0002914	HP:0002914	Hyperchloriduria	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75

Genes (5) :BSND CLCNKA CLCNKB KCNJ1 SLC12A1

Diseases (5) :OMIM:602522 OMIM:613090 OMIM:607364 OMIM:241200 OMIM:601678

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