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 aspartate family amino acid concentration (HP:0010899)

Parent Node:
Abnormal circulating amino acid concentration (HP:0003112)

Parent Node:
Abnormal circulating threonine concentration (HP:0010900)

..Starting node
..Hyperthreoninemia (HP:0003354)

Term ID:

3354

Name:

Hyperthreoninemia

Synonym:

Elevated circulating threonine; High blood threonine levels

Definition:

An increased concentration of threonine in the blood.

Comments:

Reference:

HP:0003354

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperthreoninuria (HP:0003296)

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:0003354	HP:0003354	Hyperthreoninemia	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.	124
HP:0003354	HP:0003354	Hyperthreoninemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82

Genes (2) :GUCY2D SLC25A13

Diseases (2) :OMIM:204000 ORPHA:247598

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