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 aspartate family amino acid concentration (HP:0010899)

..Starting node
..Abnormal circulating threonine concentration (HP:0010900)

Term ID:

10900

Name:

Abnormal circulating threonine concentration

Synonym:

Abnormality of threonine metabolism

Definition:

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

Comments:

Reference:

HP:0010900

Genes and Diseases:

Child Nodes:

........

Hyperthreoninuria (HP:0003296)

........

Hyperthreoninemia (HP:0003354)

Sister Nodes:

Abnormal circulating lysine concentration (HP:0010908)

Abnormal circulating methionine concentration (HP:0010901)

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:0010900	HP:0010900	Abnormal circulating threonine concentration	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0010900	HP:0010900	Abnormal circulating threonine concentration	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040283 - Occasional	92
HP:0010900	HP:0010900	Abnormal circulating threonine concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0010900	HP:0500136	Hypothreoninemia	1	CL E G H
HP:0010900	HP:0003354	Hyperthreoninemia	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.	124
HP:0010900	HP:0003354	Hyperthreoninemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82

Genes (3) :GUCY2D PNPO SLC25A13

Diseases (3) :OMIM:204000 ORPHA:79096 ORPHA:247598

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