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 amino acid concentration (HP:0003112)

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

Parent Node:
Hyperglycinemia (HP:0002154)

..Starting node
..Nonketotic hyperglycinemia (HP:0008288)

Term ID:

8288

Name:

Nonketotic hyperglycinemia

Synonym:

Definition:

Comments:

Reference:

HP:0008288

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:0008288	HP:0008288	Nonketotic hyperglycinemia	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040281 - Very frequent	17
HP:0008288	HP:0008288	Nonketotic hyperglycinemia	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional	6
HP:0008288	HP:0008288	Nonketotic hyperglycinemia	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0008288	HP:0008288	Nonketotic hyperglycinemia	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99

Genes (3) :GLRX5 GLYCTK IRF6

Diseases (4) :ORPHA:401866 ORPHA:941 OMIM:220120 ORPHA:1300

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