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
..Hyperphenylalaninemia (HP:0004923)

Term ID:

4923

Name:

Hyperphenylalaninemia

Synonym:

Definition:

An increased concentration of L-phenylalanine in the blood.

Comments:

Reference:

HP:0004923

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atypical hyperphenylalaninemia (HP:0004922)

Maternal hyperphenylalaninemia (HP:0100610)

Positive ferric chloride test (HP:0003612)

Reduced phenylalanine hydroxylase level (HP:0005982)

Transient hyperphenylalaninemia (HP:0008297)

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:0004923	HP:0004923	Hyperphenylalaninemia	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0004923	HP:0004923	Hyperphenylalaninemia	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040281 - Very frequent	641
HP:0004923	HP:0004923	Hyperphenylalaninemia	0	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0004923	HP:0004923	Hyperphenylalaninemia	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040281 - Very frequent	24
HP:0004923	HP:0004923	Hyperphenylalaninemia	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0004923	HP:0004923	Hyperphenylalaninemia	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43

Genes (5) :GCH1 PAH PCBD1 PTS QDPR

Diseases (6) :OMIM:233910 ORPHA:79254 OMIM:264070 ORPHA:1578 OMIM:261640 OMIM:261630

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