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:
Acidosis (HP:0001941)

Grandparent Node:
Renal tubular dysfunction (HP:0000124)

Parent Node:
Renal tubular acidosis (HP:0001947)

..Starting node
..Bicarbonate-wasting renal tubular acidosis (HP:0004910)

Term ID:

4910

Name:

Bicarbonate-wasting renal tubular acidosis

Synonym:

HCO3-wasting renal tubular acidosis; Renal bicarbonate wasting

Definition:

Comments:

Reference:

HP:0004910

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal renal tubular acidosis (HP:0008341)

Proximal renal tubular acidosis (HP:0002049)

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:0004910	HP:0004910	Bicarbonate-wasting renal tubular acidosis	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0004910	HP:0004910	Bicarbonate-wasting renal tubular acidosis	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0004910	HP:0004910	Bicarbonate-wasting renal tubular acidosis	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0004910	HP:0004910	Bicarbonate-wasting renal tubular acidosis	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0004910	HP:0004910	Bicarbonate-wasting renal tubular acidosis	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.	89

Genes (5) :EHHADH GATM NDUFAF6 SLC34A1 SLC4A4

Diseases (2) :ORPHA:3337 OMIM:604278

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