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 glial cell morphology (HP:0100705)

Parent Node:
Abnormal oligodendroglia morphology (HP:0100706)

..Starting node
..Reduction of oligodendroglia (HP:0100709)

Term ID:

100709

Name:

Reduction of oligodendroglia

Synonym:

Definition:

Comments:

Reference:

HP:0100709

Genes and Diseases:

Child Nodes:

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:0100709	HP:0100709	Reduction of oligodendroglia	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	60

Genes (1) :PLP1

Diseases (1) :OMIM:312080

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