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 circulating purine concentration (HP:0004352)

Parent Node:
Hyperxanthinemia (HP:0010933)

..Starting node
..Reduced xanthine dehydrogenase level (HP:0003534)

Term ID:

3534

Name:

Reduced xanthine dehydrogenase level

Synonym:

Xanthine dehydrogenase deficiency

Definition:

An abnormal reduction in xanthine dehydrogenase level.

Comments:

Reference:

HP:0003534

Genes and Diseases:

Child Nodes:

Sister Nodes:

Xanthinuria (HP:0010934)

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:0003534	HP:0003534	Reduced xanthine dehydrogenase level	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0003534	HP:0003534	Reduced xanthine dehydrogenase level	0	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I	.	79

Genes (2) :MOCS1 XDH

Diseases (2) :OMIM:252150 OMIM:278300

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