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:
Abnormal renal tubular resorption (HP:0011038)

..Starting node
..Increased renal tubular phosphate reabsorption (HP:0005571)

Term ID:

5571

Name:

Increased renal tubular phosphate reabsorption

Synonym:

Increased percent tubular reabsorption of phosphorus

Definition:

Comments:

Reference:

HP:0005571

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired renal concentrating ability (HP:0004727)

Impaired renal ltubular reabsorption of chloride (HP:0005579)

Renal Fanconi syndrome (HP:0001994)

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:0005571	HP:0005571	Increased renal tubular phosphate reabsorption	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.