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 involuntary eye movements (HP:0012547)

Parent Node:
Nystagmus (HP:0000639)

..Starting node
..Rotary nystagmus (HP:0001583)

Term ID:

1583

Name:

Rotary nystagmus

Synonym:

Rotatory Nystagmus

Definition:

A form of nystagmus in which the eyeball makes rotary motions around the axis.

Comments:

Reference:

HP:0001583

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital nystagmus (HP:0006934)

Divergence nystagmus (HP:0030691)

Gaze-evoked nystagmus (HP:0000640)

Horizontal nystagmus (HP:0000666)

Nystagmus-induced head nodding (HP:0001361)

Pendular nystagmus (HP:0012043)

Vertical nystagmus (HP:0010544)

Vestibular nystagmus (HP:0010542)

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:0001583	HP:0001583	Rotary nystagmus	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0001583	HP:0001583	Rotary nystagmus	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0001583	HP:0001583	Rotary nystagmus	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0001583	HP:0001583	Rotary nystagmus	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001583	HP:0001583	Rotary nystagmus	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0001583	HP:0001583	Rotary nystagmus	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent	14
HP:0001583	HP:0001583	Rotary nystagmus	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0001583	HP:0001583	Rotary nystagmus	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0001583	HP:0001583	Rotary nystagmus	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0001583	HP:0001583	Rotary nystagmus	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0001583	HP:0001583	Rotary nystagmus	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional	6
HP:0001583	HP:0001583	Rotary nystagmus	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.	220
HP:0001583	HP:0001583	Rotary nystagmus	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	.	60
HP:0001583	HP:0001583	Rotary nystagmus	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency		92
HP:0001583	HP:0001583	Rotary nystagmus	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001583	HP:0001583	Rotary nystagmus	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0001583	HP:0001583	Rotary nystagmus	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0001583	HP:0001583	Rotary nystagmus	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0001583	HP:0001583	Rotary nystagmus	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0001583	HP:0001583	Rotary nystagmus	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45

Genes (20) :ACBD5 ALX4 CLN3 ELOVL1 ERLIN2 GFER GJC2 KCNN2 LYST MKS1 MPC1 NPHP4 PLP1 PNPO PPP1R21 PPP2R5D SLC16A2 TELO2 TMEM106B TMEM216

Diseases (20) :OMIM:618863 OMIM:613451 ORPHA:228346 OMIM:618527 ORPHA:209951 ORPHA:330054 OMIM:608804 OMIM:619724 ORPHA:167 OMIM:249000 OMIM:614741 OMIM:606996 OMIM:312080 OMIM:610090 OMIM:619383 ORPHA:457279 OMIM:300523 ORPHA:488642 OMIM:617964 OMIM:608091

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