Human Phenotype Ontology

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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:
Acidosis (HP:0001941)

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

..Starting node
..Oroticaciduria (HP:0003218)

Term ID:

3218

Name:

Oroticaciduria

Synonym:

High urine orotic acid levels; Increased urinary orotic acid concentration; Orotic aciduria

Definition:

An increased concentration of orotic acid in the urine.

Comments:

Reference:

HP:0003218

Genes and Diseases:

Child Nodes:

Sister Nodes:

Orotic acid crystalluria (HP:0003526)

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:0003218	HP:0003218	Oroticaciduria	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia	.	31
HP:0003218	HP:0003218	Oroticaciduria	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0003218	HP:0003218	Oroticaciduria	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040281 - Very frequent	81
HP:0003218	HP:0003218	Oroticaciduria	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0003218	HP:0003218	Oroticaciduria	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0003218	HP:0003218	Oroticaciduria	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0003218	HP:0003218	Oroticaciduria	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0003218	HP:0003218	Oroticaciduria	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0003218	HP:0003218	Oroticaciduria	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040281 - Very frequent	135
HP:0003218	HP:0003218	Oroticaciduria	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	.	135

Genes (7) :ARG1 ASL ASS1 OTC SLC25A15 SLC7A7 UMPS

Diseases (10) :OMIM:207800 OMIM:207900 ORPHA:23 OMIM:215700 OMIM:311250 ORPHA:415 ORPHA:470 OMIM:222700 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.

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