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:
Abnormal cranial nerve morphology (HP:0001291)

Parent Node:
Cranial nerve paralysis (HP:0006824)

..Starting node
..Abducens palsy (HP:0006897)

Term ID:

6897

Name:

Abducens palsy

Synonym:

Abducens nerve palsy; Abducens nerve paralysis; Abducens nerve paresis; Cranial nerve VI palsy; Lateral rectus muscle denervation paresis; Sixth nerve palsy

Definition:

Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.

Comments:

Reference:

HP:0006897

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial palsy (HP:0010628)

Fourth cranial nerve palsy (HP:0007011)

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:0006897	HP:0006897	Abducens palsy	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	95
HP:0006897	HP:0006897	Abducens palsy	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	.	1
HP:0006897	HP:0006897	Abducens palsy	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	636
HP:0006897	HP:0006897	Abducens palsy	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0006897	HP:0006897	Abducens palsy	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	462
HP:0006897	HP:0006897	Abducens palsy	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0006897	HP:0006897	Abducens palsy	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0006897	HP:0006897	Abducens palsy	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0006897	HP:0006897	Abducens palsy	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent	166
HP:0006897	HP:0006897	Abducens palsy	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0006897	HP:0006897	Abducens palsy	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0006897	HP:0006897	Abducens palsy	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8

Genes (10) :AIP CCDC174 CDH23 MEN1 NAXE PSAP TBC1D2B TMEM67 TRPV4 WDR26

Diseases (10) :ORPHA:2965 OMIM:616816 ORPHA:91347 OMIM:617186 OMIM:610539 ORPHA:397973 ORPHA:140976 OMIM:606071 OMIM:181405 ORPHA:513456

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