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:
Abnormal urinary color (HP:0012086)

..Starting node
..Purple urine (HP:0040322)

Term ID:

40322

Name:

Purple urine

Synonym:

Definition:

An abnormal purple color of the urine.

Comments:

Reference:

HP:0040322

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blue urine (HP:0040317)

Dark urine (HP:0040319)

Dark yellow urine (HP:0040321)

Red urine (HP:0040318)

Red-brown urine (HP:0040320)

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:0040322	HP:0040322	Purple urine	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent	62
HP:0040322	HP:0040322	Purple urine	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	29
HP:0040322	HP:0040322	Purple urine	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent	31
HP:0040322	HP:0040322	Purple urine	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	41

Genes (4) :ALAD GATA1 UROD UROS

Diseases (3) :ORPHA:100924 ORPHA:79277 ORPHA:95159

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