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:
Reduced cell surface marker level (HP:0031551)

Parent Node:
Reduced granulocyte surface marker level (HP:0031553)

..Starting node
..Reduced granulocyte CD59 level (HP:0031555)

Term ID:

31555

Name:

Reduced granulocyte CD59 level

Synonym:

Definition:

Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.

Comments:

Reference:

HP:0031555

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced granulocyte CD16 level (HP:0031556)

Reduced granulocyte CD55 level (HP:0031554)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031555	HP:0031555	Reduced granulocyte CD59 level	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	6

Genes (1) :PIGM

Diseases (1) :OMIM:610293

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