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

..Starting node
..Impaired renal tubular reabsorption of bicarbonate (HP:4000010)

Term ID:

4000010

Name:

Impaired renal tubular reabsorption of bicarbonate

Synonym:

Definition:

Decreased renal tubular reabsorption of bicarbonate.

Comments:

Reference:

HP:4000010

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:4000010	HP:4000010	Impaired renal tubular reabsorption of bicarbonate	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	89

Genes (1) :SLC4A4

Diseases (1) :OMIM:604278

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