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 aromatic amino acid concentration (HP:0004338)

Parent Node:
Abnormal circulating phenylalanine concentration (HP:0010893)

..Starting node
..Transient hyperphenylalaninemia (HP:0008297)

Term ID:

8297

Name:

Transient hyperphenylalaninemia

Synonym:

Definition:

A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).

Comments:

Reference:

HP:0008297

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atypical hyperphenylalaninemia (HP:0004922)

Hyperphenylalaninemia (HP:0004923)

Maternal hyperphenylalaninemia (HP:0100610)

Positive ferric chloride test (HP:0003612)

Reduced phenylalanine hydroxylase level (HP:0005982)

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:0008297	HP:0008297	Transient hyperphenylalaninemia	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0008297	HP:0008297	Transient hyperphenylalaninemia	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	.	86
HP:0008297	HP:0008297	Transient hyperphenylalaninemia	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0008297	HP:0008297	Transient hyperphenylalaninemia	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0008297	HP:0008297	Transient hyperphenylalaninemia	0	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0008297	HP:0008297	Transient hyperphenylalaninemia	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28

Genes (5) :GCH1 IMPDH2 NR4A2 PCBD1 SPR

Diseases (4) :ORPHA:98808 OMIM:128230 OMIM:264070 OMIM:612716

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

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