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 blood phosphate concentration (HP:0100529)

Parent Node:
Hypophosphatemia (HP:0002148)

..Starting node
..Renal hypophosphatemia (HP:0008732)

Term ID:

8732

Name:

Renal hypophosphatemia

Synonym:

Definition:

Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.

Comments:

Reference:

HP:0008732

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypophosphatemic rickets (HP:0004912)

Transient hypophosphatemia (HP:0008285)

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:0008732	HP:0008732	Renal hypophosphatemia	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0008732	HP:0008732	Renal hypophosphatemia	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151

Genes (2) :DMP1 ENPP1

Diseases (1) :ORPHA:289176

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