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 morphology (HP:0012210)

Parent Node:
Nephrolithiasis (HP:0000787)

..Starting node
..Xanthine nephrolithiasis (HP:0000804)

Term ID:

804

Name:

Xanthine nephrolithiasis

Synonym:

Urinary xanthine stones; Xanthine stones

Definition:

The presence of xanthine-containing calculi (stones) in the kidneys.

Comments:

Reference:

HP:0000804

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calcium nephrolithiasis (HP:0004724)

Struvite nephrolithiasis (HP:0030035)

Uric acid nephrolithiasis (HP:0000791)

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:0000804	HP:0000804	Xanthine nephrolithiasis	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0000804	HP:0000804	Xanthine nephrolithiasis	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0000804	HP:0000804	Xanthine nephrolithiasis	0	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I	.	79

Genes (3) :MOCS1 MOCS2 XDH

Diseases (3) :OMIM:252150 OMIM:252160 OMIM:278300

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