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 peripheral nervous system morphology (HP:0000759)

Parent Node:
Abnormal cranial nerve morphology (HP:0001291)

..Starting node
..Abnormality of the vestibulocochlear nerve (HP:0009591)

Term ID:

9591

Name:

Abnormality of the vestibulocochlear nerve

Synonym:

Abnormality of the eighth cranial nerve; Abnormality of the VIIIth cranial nerve

Definition:

Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain.

Comments:

Reference:

HP:0009591

Genes and Diseases:

Child Nodes:

........

Vestibular Schwannoma (HP:0009588)

................... HP:0009589 Bilateral vestibular Schwannoma
................... HP:0009590 Unilateral vestibular Schwannoma

........

Vestibular nystagmus (HP:0010542)

Sister Nodes:

Abnormal fifth cranial nerve morphology (HP:0010824)

Abnormal glossopharyngeal nerve morphology (HP:3000047)

Abnormal great auricular nerve morphology (HP:3000048)

Abnormal lingual nerve morphology (HP:3000075)

Abnormal sixth cranial nerve morphology (HP:0011348)

Abnormality of inferior alveolar nerve (HP:3000055)

Abnormality of infra-orbital nerve (HP:3000061)

Abnormality of the eleventh cranial nerve (HP:0010825)

Abnormality of the seventh cranial nerve (HP:0010827)

Cranial nerve compression (HP:0001293)

Cranial nerve motor loss (HP:0007097)

Cranial nerve paralysis (HP:0006824)

Gustatory lacrimation (HP:0100274)

Oculomotor nerve palsy (HP:0012246)

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:0009591	HP:0009591	Abnormality of the vestibulocochlear nerve	0	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.	46
HP:0009591	HP:0009591	Abnormality of the vestibulocochlear nerve	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0009591	HP:0009591	Abnormality of the vestibulocochlear nerve	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0009591	HP:0009591	Abnormality of the vestibulocochlear nerve	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0009591	HP:0009591	Abnormality of the vestibulocochlear nerve	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0009591	HP:0009591	Abnormality of the vestibulocochlear nerve	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0009591	HP:0009591	Abnormality of the vestibulocochlear nerve	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0009591	HP:0009591	Abnormality of the vestibulocochlear nerve	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0009591	HP:0009588	Vestibular schwannoma	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0009591	HP:0009588	Vestibular schwannoma	1	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0009591	HP:0009588	Vestibular schwannoma	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0009591	HP:0009588	Vestibular schwannoma	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0009591	HP:0010542	Vestibular nystagmus	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040283 - Occasional	69
HP:0009591	HP:0009588	Vestibular schwannoma	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0009591	HP:0009589	Bilateral vestibular schwannoma	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent	220
HP:0009591	HP:0009590	Unilateral vestibular schwannoma	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0009591	HP:0009589	Bilateral vestibular schwannoma	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220

Genes (7) :COCH DKK1 HRAS KARS1 NF2 PRNP SPRED1

Diseases (8) :OMIM:601369 ORPHA:268882 OMIM:218040 OMIM:613641 ORPHA:637 OMIM:101000 ORPHA:282166 ORPHA:137605

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