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
..Hypergalactosemia (HP:0012024)

Term ID:

12024

Name:

Hypergalactosemia

Synonym:

Galactosemia

Definition:

Elevated concentration of galactose in the blood.

Comments:

Reference:

HP:0012024

Genes and Diseases:

Child Nodes:

Sister Nodes:

Galactose intolerance (HP:0004919)

Galactosuria (HP:0012023)

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:0012024	HP:0012024	Hypergalactosemia	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.	52
HP:0012024	HP:0012024	Hypergalactosemia	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040281 - Very frequent	23
HP:0012024	HP:0012024	Hypergalactosemia	0	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency	.	23
HP:0012024	HP:0012024	Hypergalactosemia	0	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency	HP:0040281 - Very frequent
HP:0012024	HP:0012024	Hypergalactosemia	0	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0012024	HP:0012024	Hypergalactosemia	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.	351
HP:0012024	HP:0012024	Hypergalactosemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82

Genes (5) :GALE GALK1 GALM GALT SLC25A13

Diseases (7) :OMIM:230350 ORPHA:79237 OMIM:230200 ORPHA:570422 OMIM:618881 OMIM:230400 ORPHA:247598

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