Human Phenotype Ontology

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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:
Abnormality of vitamin metabolism (HP:0100508)

Parent Node:
Abnormal circulating serine family amino acid concentration (HP:0010894)

..Starting node
..Abnormal circulating serine concentration (HP:0012278)

Term ID:

12278

Name:

Abnormal circulating serine concentration

Synonym:

Definition:

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

Comments:

Reference:

HP:0012278

Genes and Diseases:

Child Nodes:

........

Hyposerinemia (HP:0012279)

Sister Nodes:

Abnormal circulating glycine concentration (HP:0010895)

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:0012278	HP:0012278	Abnormal circulating serine concentration	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0012278	HP:0012278	Abnormal circulating serine concentration	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0012278	HP:0012278	Abnormal circulating serine concentration	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0012278	HP:0012278	Abnormal circulating serine concentration	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form		54
HP:0012278	HP:0012278	Abnormal circulating serine concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0012278	HP:0012278	Abnormal circulating serine concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0012278	HP:0500138	Hyperserinemia	1	CL E G H
HP:0012278	HP:0012279	Hyposerinemia	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	37
HP:0012278	HP:0012279	Hyposerinemia	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.	27
HP:0012278	HP:0012279	Hyposerinemia	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	27
HP:0012278	HP:0012279	Hyposerinemia	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040282 - Frequent	54

Genes (5) :PHGDH PSAT1 PSPH SLC25A13 SLC7A7

Diseases (6) :ORPHA:79351 OMIM:610992 ORPHA:284417 ORPHA:79350 ORPHA:247598 ORPHA:470

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

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