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:
Hypokalemic alkalosis (HP:0001949)

Grandparent Node:
Metabolic alkalosis (HP:0200114)

Parent Node:
Hypochloremic metabolic alkalosis (HP:0005977)

Parent Node:
Hypokalemic metabolic alkalosis (HP:0001960)

..Starting node
..Hypokalemic hypochloremic metabolic alkalosis (HP:0004909)

Term ID:

4909

Name:

Hypokalemic hypochloremic metabolic alkalosis

Synonym:

Definition:

Comments:

Reference:

HP:0004909

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004909	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0004909	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0004909	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27

Genes (3) :BSND CLCNKA CLCNKB

Diseases (2) :OMIM:602522 OMIM:613090

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