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:
Nephrolithiasis (HP:0000787)

Parent Node:
Uric acid nephrolithiasis (HP:0000791)

..Starting node
..Uric acid urolithiasis independent of gout (HP:0008651)

Term ID:

8651

Name:

Uric acid urolithiasis independent of gout

Synonym:

Definition:

Comments:

Reference:

HP:0008651

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008651	HP:0008651	Uric acid urolithiasis independent of gout	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040282 - Frequent	56
HP:0008651	HP:0008651	Uric acid urolithiasis independent of gout	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040282 - Frequent	57

Genes (2) :SLC22A12 SLC2A9

Diseases (1) :ORPHA:94088

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