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
..Elevated aldolase level (HP:0012544)

Term ID:

12544

Name:

Elevated aldolase level

Synonym:

Definition:

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

Comments:

Reference:

HP:0012544

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced aldolase level (HP:0012545)

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:0012544	HP:0012544	Elevated aldolase level	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012544	HP:0012544	Elevated aldolase level	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012544	HP:0012544	Elevated aldolase level	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0012544	HP:0012544	Elevated aldolase level	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0012544	HP:0012544	Elevated aldolase level	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent	13

Genes (5) :COX1 COX3 HSPG2 LPIN1 TGFB1

Diseases (3) :ORPHA:99845 ORPHA:800 ORPHA:1328

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