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:
Involuntary movements (HP:0004305)

Parent Node:
Myoclonus (HP:0001336)

..Starting node
..Morning myoclonic jerks (HP:0007000)

Term ID:

7000

Name:

Morning myoclonic jerks

Synonym:

Definition:

Comments:

Reference:

HP:0007000

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chin myoclonus (HP:0012462)

Cortical myoclonus (HP:0040148)

Erratic myoclonus (HP:0025357)

Eyelid myoclonus (HP:0025097)

Limb myoclonus (HP:0045084)

Myoclonic spasms (HP:0003739)

Palatal myoclonus (HP:0010530)

Sleep myoclonus (HP:0012323)

Spinal myoclonus (HP:0010531)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0007000	HP:0007000	Morning myoclonic jerks	0	CACNB4 CL E G H	785	307	ORPHA	1	323	1404	601949
HP:0007000	HP:0007000	Morning myoclonic jerks	0	CLCN2 CL E G H	1181	307	ORPHA	1	403	2020	600570
HP:0007000	HP:0007000	Morning myoclonic jerks	0	CSTB CL E G H	1476	308	ORPHA	1	261	2482	601145
HP:0007000	HP:0007000	Morning myoclonic jerks	0	EFHC1 CL E G H	114327	307	ORPHA	1	454	16406	608815
HP:0007000	HP:0007000	Morning myoclonic jerks	0	GABRA1 CL E G H	2554	307	ORPHA	1	606	4075	137160
HP:0007000	HP:0007000	Morning myoclonic jerks	0	GABRD CL E G H	2563	307	ORPHA	1	474	4084	137163
HP:0007000	HP:0007000	Morning myoclonic jerks	0	ICK CL E G H	22858	307	ORPHA	1		21219	612325
HP:0007000	HP:0007000	Morning myoclonic jerks	0	JRK CL E G H	8629	307	ORPHA	1	86	6199	603210
HP:0007000	HP:0007000	Morning myoclonic jerks	0	KCNQ3 CL E G H	3786	307	ORPHA	1	1227	6297	602232
HP:0007000	HP:0007000	Morning myoclonic jerks	0	PRICKLE1 CL E G H	144165	308	ORPHA	1	570	17019	608500
HP:0007000	HP:0007000	Morning myoclonic jerks	0	SCARB2 CL E G H	950	308	ORPHA	1	474	1665	602257
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (11) :CACNB4 CLCN2 CSTB EFHC1 GABRA1 GABRD ICK JRK KCNQ3 PRICKLE1 SCARB2

Diseases (2) :307 308

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.