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:
Abnormal circulating nitrogen compound concentration (HP:0004364)

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

..Starting node
..Urocanic aciduria (HP:0012237)

Term ID:

12237

Name:

Urocanic aciduria

Synonym:

High urine urocanic acid levels

Definition:

An increased concentration of urocanic acid in the urine.

Comments:

Reference:

HP:0012237

Genes and Diseases:

Child Nodes:

Sister Nodes:

4-hydroxyphenylacetic aciduria (HP:0003607)

4-Hydroxyphenylpyruvic aciduria (HP:0003161)

Elevated urinary 3-hydroxybutyric acid (HP:0040155)

Elevated urinary homovanillic acid (HP:0011977)

Elevated urinary vanillylmandelic acid (HP:0011978)

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:0012237	HP:0012237	Urocanic aciduria	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency	.	8
HP:0012237	HP:0012237	Urocanic aciduria	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent	8

Genes (1) :UROC1

Diseases (2) :OMIM:276880 ORPHA:210128

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