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 carbohydrate concentration (HP:0011013)

Parent Node:
Impairment of galactose metabolism (HP:0004915)

..Starting node
..Galactose intolerance (HP:0004919)

Term ID:

4919

Name:

Galactose intolerance

Synonym:

Definition:

Comments:

Reference:

HP:0004919

Genes and Diseases:

Child Nodes:

Sister Nodes:

Galactosuria (HP:0012023)

Hypergalactosemia (HP:0012024)

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:0004919	HP:0004919	Galactose intolerance	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71

Genes (1) :SLC2A2

Diseases (1) :ORPHA:2088

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