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:
Abnormal flow cytometry test result (HP:0031550)

Parent Node:
Reduced cell surface marker level (HP:0031551)

..Starting node
..Reduced fibroblast surface marker level (HP:0031552)

Term ID:

31552

Name:

Reduced fibroblast surface marker level

Synonym:

Definition:

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

Comments:

Reference:

HP:0031552

Genes and Diseases:

Child Nodes:

........

Reduced fibroblast CD55 level (HP:0031557)

........

Reduced fibroblast CD59 level (HP:0031558)

........

Reduced fibroblast CD16 level (HP:0031559)

Sister Nodes:

Reduced granulocyte surface marker level (HP:0031553)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031552	HP:0031552	Reduced fibroblast surface marker level	0	CL E G H
HP:0031552	HP:0031558	Reduced fibroblast CD59 level	1	CL E G H
HP:0031552	HP:0031557	Reduced fibroblast CD55 level	1	CL E G H
HP:0031552	HP:0031559	Reduced fibroblast CD16 level	1	CL E G H

Genes (0) :

Diseases (0) :

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