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:
Interictal epileptiform activity (HP:0011182)

Parent Node:
EEG with generalized epileptiform discharges (HP:0011198)

..Starting node
..EEG with generalized sharp slow waves (HP:0011199)

Term ID:

11199

Name:

EEG with generalized sharp slow waves

Synonym:

EEG with generalised sharp slow waves

Definition:

EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.

Comments:

Reference:

HP:0011199

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with burst suppression (HP:0010851)

EEG with generalized polymorphic epileptiform discharges (HP:0011200)

EEG with generalized polyspikes (HP:0012001)

EEG with generalized spikes (HP:0012000)

EEG with spike-wave complexes (HP:0010850)

Hypsarrhythmia (HP:0002521)

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:0011199	HP:0011199	EEG with generalized sharp slow waves	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent	74
HP:0011199	HP:0011199	EEG with generalized sharp slow waves	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0011199	HP:0011199	EEG with generalized sharp slow waves	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	239
HP:0011199	HP:0011199	EEG with generalized sharp slow waves	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	449
HP:0011199	HP:0011199	EEG with generalized sharp slow waves	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	8
HP:0011199	HP:0011199	EEG with generalized sharp slow waves	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	88
HP:0011199	HP:0011199	EEG with generalized sharp slow waves	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0011199	HP:0011199	EEG with generalized sharp slow waves	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0011199	HP:0011199	EEG with generalized sharp slow waves	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	94
HP:0011199	HP:0011199	EEG with generalized sharp slow waves	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	1053

Genes (10) :ALDH4A1 ALDH7A1 ATP1A2 CACNA1A LONP1 PDHA1 PIGT PLPBP PRRT2 SCN1A

Diseases (5) :ORPHA:79101 ORPHA:3006 ORPHA:569 ORPHA:79243 ORPHA:369837

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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