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 enzyme/coenzyme activity (HP:0012379)

Parent Node:
Abnormal aldolase level (HP:0012400)

..Starting node
..Reduced aldolase level (HP:0012545)

Term ID:

12545

Name:

Reduced aldolase level

Synonym:

Definition:

An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum.

Comments:

Reference:

HP:0012545

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated aldolase level (HP:0012544)

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:0012545	HP:0012545	Reduced aldolase level	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040281 - Very frequent	50
HP:0012545	HP:0012545	Reduced aldolase level	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040281 - Very frequent	73

Genes (2) :ALDOA ALDOB

Diseases (2) :ORPHA:57 ORPHA:469

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