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:
Generalized-onset seizure (HP:0002197)

Parent Node:
Generalized myoclonic seizure (HP:0002123)

..Starting node
..Generalized myoclonic-atonic seizure (HP:0011170)

Term ID:

11170

Name:

Generalized myoclonic-atonic seizure

Synonym:

Generalised myoclonic-atonic seizure; Myoclonic atonic seizures; Myoclonic-astatic seizure

Definition:

A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.

Comments:

Reference:

HP:0011170

Genes and Diseases:

Child Nodes:

Sister Nodes:

Photosensitive myoclonic seizure (HP:0001327)

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:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent
HP:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	227
HP:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	52
HP:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	1053
HP:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	255
HP:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	29
HP:0011170	HP:0011170	Generalized myoclonic-atonic seizure	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040281 - Very frequent	108

Genes (10) :AP2M1 CAMTA1 CHD2 MED13 NEXMIF OGDHL SCN1A SLC2A1 SLC6A1 SYNGAP1

Diseases (5) :OMIM:618587 ORPHA:1942 OMIM:614756 OMIM:618009 OMIM:619701

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

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