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

..Starting node
..Low neutrophil alkaline phosphatase (HP:0041044)

Term ID:

41044

Name:

Low neutrophil alkaline phosphatase

Synonym:

Definition:

An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.

Comments:

Reference:

HP:0041044

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0041044	HP:0041044	Low neutrophil alkaline phosphatase	0	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3

Genes (1) :CEBPE

Diseases (1) :OMIM:245480

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