Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 urinary electrolyte concentration (HP:0012591)

Parent Node:
Abnormal urine phosphate concentration (HP:0012599)

..Starting node
..Hypophosphaturia (HP:0012365)

Term ID:

12365

Name:

Hypophosphaturia

Synonym:

Low urine phosphate levels

Definition:

An abnormally decreased phosphate concentration in the urine.

Comments:

Reference:

HP:0012365

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperphosphaturia (HP:0003109)

Renal phosphate wasting (HP:0000117)

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:0012365	HP:0012365	Hypophosphaturia	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040282 - Frequent	16

Genes (1) :FAM20A

Diseases (1) :ORPHA:1031

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