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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal circulating carboxylic acid concentration (HP:0004354)

..Starting node
..Increased level of hippuric acid in urine (HP:0410066)

Term ID:

410066

Name:

Increased level of hippuric acid in urine

Synonym:

Increased level of N-benzoylglycine in urine

Definition:

An increase in the level of hippuric acid in the urine.

Comments:

Reference:

HP:0410066

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating dicarboxylic acid concentration (HP:0010995)

Abnormal circulating monocarboxylic acid concentration (HP:0010996)

Abnormality of amino acid metabolism (HP:0004337)

Aldehyde oxidase deficiency (HP:0002932)

Elevated urinary carboxylic acid (HP:0040156)

Increased level of galactonate in red blood cells (HP:0410063)

Increased level of hippuric acid in blood (HP:0410065)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410066	HP:0410066	Increased level of hippuric acid in urine	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	120
HP:0410066	HP:0410066	Increased level of hippuric acid in urine	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	162
HP:0410066	HP:0410066	Increased level of hippuric acid in urine	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	156
HP:0410066	HP:0410066	Increased level of hippuric acid in urine	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	35
HP:0410066	HP:0410066	Increased level of hippuric acid in urine	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	96
HP:0410066	HP:0410066	Increased level of hippuric acid in urine	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	92

Genes (6) :BCKDHA BCKDHB DBT HMGCL PCCA PCCB

Diseases (3) :OMIM:248600 OMIM:246450 OMIM:606054

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