Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
obsolete Abnormal test result (HP:0500014)

Parent Node:
Abnormal flow cytometry test result (HP:0031550)

..Starting node
..Reduced cell surface marker level (HP:0031551)

Term ID:

31551

Name:

Reduced cell surface marker level

Synonym:

Definition:

Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.

Comments:

Reference:

HP:0031551

Genes and Diseases:

Child Nodes:

........

Reduced fibroblast surface marker level (HP:0031552)

................... HP:0031557 Reduced fibroblast CD55 level
................... HP:0031558 Reduced fibroblast CD59 level
................... HP:0031559 Reduced fibroblast CD16 level

........

Reduced granulocyte surface marker level (HP:0031553)

................... HP:0031554 Reduced granulocyte CD55 level
................... HP:0031555 Reduced granulocyte CD59 level
................... HP:0031556 Reduced granulocyte CD16 level

Sister Nodes:

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:0031551	HP:0031551	Reduced cell surface marker level	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0031551	HP:0031551	Reduced cell surface marker level	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	6
HP:0031551	HP:0031552	Reduced fibroblast surface marker level	1	CL E G H
HP:0031551	HP:0041048	Decreased expression of GPI-anchored proteins on the cell surface	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0031551	HP:0031553	Reduced granulocyte surface marker level	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	6
HP:0031551	HP:0031556	Reduced granulocyte CD16 level	2	CL E G H
HP:0031551	HP:0031554	Reduced granulocyte CD55 level	2	CL E G H
HP:0031551	HP:0032455	Reduced granulocyte CD18 level	2	CL E G H
HP:0031551	HP:0031559	Reduced fibroblast CD16 level	2	CL E G H
HP:0031551	HP:0031558	Reduced fibroblast CD59 level	2	CL E G H
HP:0031551	HP:0031557	Reduced fibroblast CD55 level	2	CL E G H
HP:0031551	HP:0031555	Reduced granulocyte CD59 level	2	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	6

Genes (2) :PIGK PIGM

Diseases (2) :OMIM:618879 OMIM:610293

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

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