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 nucleobase concentration (HP:0010932)

Parent Node:
Abnormal circulating purine concentration (HP:0004352)

..Starting node
..Increased urinary hypoxanthine (HP:0011814)

Term ID:

11814

Name:

Increased urinary hypoxanthine

Synonym:

Definition:

An increased level of hypoxanthine in the urine.

Comments:

Reference:

HP:0011814

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating purine concentration (HP:0004369)

Hyperxanthinemia (HP:0010933)

Increased circulating purine concentration (HP:0004368)

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:0011814	HP:0011814	Increased urinary hypoxanthine	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0011814	HP:0011814	Increased urinary hypoxanthine	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0011814	HP:0011814	Increased urinary hypoxanthine	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26

Genes (3) :MOCOS MOCS1 MOCS2

Diseases (3) :OMIM:603592 OMIM:252150 OMIM:252160

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