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:
Low alkaline phosphatase (HP:0003282)

..Starting node
..Reduced leukocyte alkaline phosphatase (HP:0004852)

Term ID:

4852

Name:

Reduced leukocyte alkaline phosphatase

Synonym:

Low leukocyte alkaline phosphatase; Reduced leukocyte ALP

Definition:

Decreased alkaline phosphatase measured within leukocytes.

Comments:

Reference:

HP:0004852

Genes and Diseases:

Child Nodes:

........

Absent leukocyte alkaline phosphatase (HP:0008161)

Sister Nodes:

Low intestinal alkaline phosphatase (HP:0010687)

Low placental alkaline phosphatase (HP:0010688)

Low tissue non-specific alkaline phosphatase (HP:0010683)

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:0004852	HP:0004852	Reduced leukocyte alkaline phosphatase	0	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid	.	51
HP:0004852	HP:0004852	Reduced leukocyte alkaline phosphatase	0	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid	.	5
HP:0004852	HP:0008161	Absent leukocyte alkaline phosphatase	1	CL E G H

Genes (2) :ABL1 BCR

Diseases (1) :OMIM:608232

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