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:
Abnormality of urine homeostasis (HP:0003110)

Parent Node:
Abnormality of urinary uric acid level (HP:0012610)

..Starting node
..Decreased urinary urate (HP:0011935)

Term ID:

11935

Name:

Decreased urinary urate

Synonym:

Definition:

Decreased concentration of urate in the urine.

Comments:

Reference:

HP:0011935

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Increased urinary urate (HP:0012611)

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:0011935	HP:0011935	Decreased urinary urate	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0011935	HP:0011935	Decreased urinary urate	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B		26
HP:0011935	HP:0011935	Decreased urinary urate	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040281 - Very frequent	52

Genes (3) :MOCS1 MOCS2 PNP

Diseases (3) :OMIM:252150 OMIM:252160 ORPHA:760

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