Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 serine concentration (HP:0012278)

..Starting node
..Hyposerinemia (HP:0012279)

Term ID:

12279

Name:

Hyposerinemia

Synonym:

Low blood serine levels

Definition:

Reduced concentration of serine in the blood.

Comments:

Reference:

HP:0012279

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0012279	HP:0012279	Hyposerinemia	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	37
HP:0012279	HP:0012279	Hyposerinemia	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.	27
HP:0012279	HP:0012279	Hyposerinemia	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	27
HP:0012279	HP:0012279	Hyposerinemia	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040282 - Frequent	54

Genes (3) :PHGDH PSAT1 PSPH

Diseases (4) :ORPHA:79351 OMIM:610992 ORPHA:284417 ORPHA:79350

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