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 circulating lipid concentration (HP:0003119)

Parent Node:
Abnormal circulating phospholipid concentration (HP:0040176)

..Starting node
..Abnormal level of platelet-activating factor (HP:0040177)

Term ID:

40177

Name:

Abnormal level of platelet-activating factor

Synonym:

Abnormal level of PAF

Definition:

Comments:

Reference:

HP:0040177

Genes and Diseases:

Child Nodes:

........

Increased level of platelet-activating factor (HP:0040178)

........

Decreased level of platelet-activating factor (HP:0040179)

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:0040177	HP:0040177	Abnormal level of platelet-activating factor	0	PLA2G7 CL E G H	7941	9040	OMIM:614278	Platelet-Activating factor acetylhydrolase deficiency		5
HP:0040177	HP:0040179	Decreased level of platelet-activating factor	1	CL E G H
HP:0040177	HP:0040178	Increased level of platelet-activating factor	1	PLA2G7 CL E G H	7941	9040	OMIM:614278	Platelet-Activating factor acetylhydrolase deficiency	.	5

Genes (1) :PLA2G7

Diseases (1) :OMIM:614278

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