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:
Abnormality of alkaline phosphatase level (HP:0004379)

Parent Node:
Elevated circulating alkaline phosphatase concentration (HP:0003155)

..Starting node
..Elevated leukocyte alkaline phosphatase (HP:0008318)

Term ID:

8318

Name:

Elevated leukocyte alkaline phosphatase

Synonym:

Elevated leukocyte ALP

Definition:

Increased alkaline phosphatase measured within leukocytes.

Comments:

Reference:

HP:0008318

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated intestinal alkaline phosphatase (HP:0010681)

Elevated placental alkaline phosphatase (HP:0010682)

Elevated tissue non-specific alkaline phosphatase (HP:0010679)

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:0008318	HP:0008318	Elevated leukocyte alkaline phosphatase	0	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary	.	34

Genes (1) :CSF3R

Diseases (1) :OMIM:162830

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