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
..Red urine (HP:0040318)

Term ID:

40318

Name:

Red urine

Synonym:

Definition:

An abnormal red color of the urine.

Comments:

Reference:

HP:0040318

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blue urine (HP:0040317)

Dark urine (HP:0040319)

Dark yellow urine (HP:0040321)

Purple urine (HP:0040322)

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:0040318	HP:0040318	Red urine	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0040318	HP:0040318	Red urine	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent	31

Genes (2) :CPOX UROD

Diseases (2) :OMIM:618892 ORPHA:95159

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