Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 monocarboxylic acid concentration (HP:0010996)

Grandparent Node:
Abnormal circulating pyrimidine concentration (HP:0004353)

Parent Node:
obsolete Increased urinary orotic acid concentration (HP:0010928)

..Starting node
..Orotic acid crystalluria (HP:0003526)

Term ID:

3526

Name:

Orotic acid crystalluria

Synonym:

Definition:

Formation of crystals owing to an increased concentration of orotic acid in the urine.

Comments:

Reference:

HP:0003526

Genes and Diseases:

Child Nodes:

Sister Nodes:

Oroticaciduria (HP:0003218)

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:0003526	HP:0003526	Orotic acid crystalluria	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040281 - Very frequent	135
HP:0003526	HP:0003526	Orotic acid crystalluria	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.	135

Genes (1) :UMPS

Diseases (2) :ORPHA:30 OMIM:258900

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