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 renal physiology (HP:0012211)

Parent Node:
Abnormality of renal excretion (HP:0011036)

..Starting node
..Decreased renal tubular phosphate excretion (HP:0005572)

Term ID:

5572

Name:

Decreased renal tubular phosphate excretion

Synonym:

Definition:

Comments:

Reference:

HP:0005572

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal urine output (HP:0012590)

Impaired renal uric acid clearance (HP:0004732)

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:0005572	HP:0005572	Decreased renal tubular phosphate excretion	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46

Genes (1) :GALNT3

Diseases (1) :OMIM:211900

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