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 nitrogen compound concentration (HP:0004364)

..Starting node
..Abnormal circulating biopterin concentration (HP:0040210)

Term ID:

40210

Name:

Abnormal circulating biopterin concentration

Synonym:

Definition:

A deviation from the normal concentration of biopterin in the blood circulation.

Comments:

Reference:

HP:0040210

Genes and Diseases:

Child Nodes:

........

Abnormal CSF biopterin level (HP:0040207)

................... HP:0040208 Elevated CSF biopterin level
................... HP:0040209 Decreased CSF biopterin level

Sister Nodes:

Abnormal circulating creatinine concentration (HP:0012100)

Abnormal circulating neopterin concentration (HP:0040206)

Azotemia (HP:0002157)

Episodic ammonia intoxication (HP:0001951)

Hyperuricosuria (HP:0003149)

Hypoammonemia (HP:0100493)

Increased level of allantoin in serum (HP:0410052)

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:0040210	HP:0040210	Abnormal circulating biopterin concentration	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040281 - Very frequent	24

Genes (1) :PCBD1

Diseases (1) :ORPHA:1578

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