Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal glial cell morphology (HP:0100705)

..Starting node
..Abnormal oligodendroglia morphology (HP:0100706)

Term ID:

100706

Name:

Abnormal oligodendroglia morphology

Synonym:

Abnormality of the oligodendroglia

Definition:

One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.

Comments:

Reference:

HP:0100706

Genes and Diseases:

Child Nodes:

........

Reduction of oligodendroglia (HP:0100709)

Sister Nodes:

Abnormal astrocyte morphology (HP:0100707)

Abnormal microglia morphology (HP:0100708)

Astrocytosis (HP:0002446)

Glioma (HP:0009733)

Gliosis (HP:0002171)

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:0100706	HP:0100706	Abnormal oligodendroglia morphology	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	60
HP:0100706	HP:0100709	Reduction of oligodendroglia	1	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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen