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
..Positive ferric chloride test (HP:0003612)

Term ID:

3612

Name:

Positive ferric chloride test

Synonym:

Positive FeCl3 test

Definition:

If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.

Comments:

Reference:

HP:0003612

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atypical hyperphenylalaninemia (HP:0004922)

Hyperphenylalaninemia (HP:0004923)

Maternal hyperphenylalaninemia (HP:0100610)

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:0003612	HP:0003612	Positive ferric chloride test	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.	65

Genes (1) :FTCD

Diseases (1) :OMIM:229100

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