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 glycine concentration (HP:0010895)

..Starting node
..Abnormal circulating sarcosine concentration (HP:0010898)

Term ID:

10898

Name:

Abnormal circulating sarcosine concentration

Synonym:

Definition:

An deviation from the normal concentration of sarcosine in the blood circulation.

Comments:

Reference:

HP:0010898

Genes and Diseases:

Child Nodes:

........

Hypersarcosinemia (HP:0010896)

........

Hypersarcosinuria (HP:0010897)

Sister Nodes:

Hyperglycinemia (HP:0002154)

Hyperglycinuria (HP:0003108)

Hypoglycinemia (HP:0012277)

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:0010898	HP:0010898	Abnormal circulating sarcosine concentration	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia		4
HP:0010898	HP:0010896	Hypersarcosinemia	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040280 - Obligate	4

Genes (1) :SARDH

Diseases (1) :ORPHA:3129

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