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 serine family amino acid concentration (HP:0010894)

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

Parent Node:
Abnormal circulating glycine concentration (HP:0010895)

..Starting node
..Hypoglycinemia (HP:0012277)

Term ID:

12277

Name:

Hypoglycinemia

Synonym:

Low blood glycine levels

Definition:

An abnormally reduced concentration of glycine in the blood.

Comments:

Reference:

HP:0012277

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating sarcosine concentration (HP:0010898)

Hyperglycinemia (HP:0002154)

Hyperglycinuria (HP:0003108)

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:0012277	HP:0012277	Hypoglycinemia	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	37
HP:0012277	HP:0012277	Hypoglycinemia	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.	27

Genes (2) :PHGDH PSAT1

Diseases (2) :ORPHA:79351 OMIM:610992

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