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 amino acid metabolism (HP:0004337)

Parent Node:
Abnormal circulating aromatic amino acid concentration (HP:0004338)

..Starting node
..Abnormal circulating tryptophan concentration (HP:0004365)

Term ID:

4365

Name:

Abnormal circulating tryptophan concentration

Synonym:

Abnormality of tryptophan metabolism

Definition:

Any deviation from the normal concentration of tryptophan in the blood circulation.

Comments:

Reference:

HP:0004365

Genes and Diseases:

Child Nodes:

........

Tryptophanuria (HP:0003361)

Sister Nodes:

Abnormal circulating phenylalanine concentration (HP:0010893)

Abnormal circulating tyrosine concentration (HP:0010917)

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:0004365	HP:0004365	Abnormal circulating tryptophan concentration	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040280 - Obligate	5
HP:0004365	HP:0500134	Hypertryptophanemia	1	CL E G H
HP:0004365	HP:0500135	Hypotryptophanemia	1	CL E G H

Genes (1) :KYNU

Diseases (1) :ORPHA:79155

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