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:
Abnormal circulating carboxylic acid concentration (HP:0004354)

Grandparent Node:
Organic aciduria (HP:0001992)

Parent Node:
Abnormal circulating monocarboxylic acid concentration (HP:0010996)

Parent Node:
Elevated urinary carboxylic acid (HP:0040156)

..Starting node
..4-hydroxyphenylacetic aciduria (HP:0003607)

Term ID:

3607

Name:

4-hydroxyphenylacetic aciduria

Synonym:

Elevated urine 4-hydroxyphenylacetic acid level

Definition:

Increased concentration of 4-hydroxyphenylacetic acid in the urine.

Comments:

Reference:

HP:0003607

Genes and Diseases:

Child Nodes:

Sister Nodes:

4-Hydroxyphenylpyruvic aciduria (HP:0003161)

Elevated urinary 3-hydroxybutyric acid (HP:0040155)

Elevated urinary homovanillic acid (HP:0011977)

Elevated urinary vanillylmandelic acid (HP:0011978)

Urocanic aciduria (HP:0012237)

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:0003607	HP:0003607	4-hydroxyphenylacetic aciduria	0	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040281 - Very frequent	23
HP:0003607	HP:0003607	4-hydroxyphenylacetic aciduria	0	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA	.	23
HP:0003607	HP:0003607	4-hydroxyphenylacetic aciduria	0	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III	.	23

Genes (1) :HPD

Diseases (3) :ORPHA:2118 OMIM:140350 OMIM:276710

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