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
..Reduced phenylalanine hydroxylase level (HP:0005982)

Term ID:

5982

Name:

Reduced phenylalanine hydroxylase level

Synonym:

Phenylalanine hydroxylase deficiency

Definition:

A reduction in phenylalanine 4-monooxygenase level.

Comments:

Reference:

HP:0005982

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atypical hyperphenylalaninemia (HP:0004922)

Hyperphenylalaninemia (HP:0004923)

Maternal hyperphenylalaninemia (HP:0100610)

Positive ferric chloride test (HP:0003612)

Transient hyperphenylalaninemia (HP:0008297)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005982	HP:0005982	Reduced phenylalanine hydroxylase level	0	CL E G H

Genes (0) :

Diseases (0) :

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