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:
Abnormality of urine homeostasis (HP:0003110)

Parent Node:
Abnormality of urine bicarbonate level (HP:0011279)

..Starting node
..Bicarbonaturia (HP:0003646)

Term ID:

3646

Name:

Bicarbonaturia

Synonym:

Increased urine bicarbonate concentration; Increased urine HCO3 concentration

Definition:

Abnormally increased concentration of hydrogencarbonate in the urine.

Comments:

Reference:

HP:0003646

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased urine bicarbonate concentration (HP:0045011)

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:0003646	HP:0003646	Bicarbonaturia	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0003646	HP:0003646	Bicarbonaturia	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0003646	HP:0003646	Bicarbonaturia	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0003646	HP:0003646	Bicarbonaturia	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0003646	HP:0003646	Bicarbonaturia	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0003646	HP:0003646	Bicarbonaturia	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47

Genes (6) :ALDOB EHHADH GATM NDUFAF6 OCRL SLC34A1

Diseases (3) :OMIM:229600 ORPHA:3337 OMIM:309000

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