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:
Hypotonia (HP:0001252)

Parent Node:
Generalized hypotonia (HP:0001290)

..Starting node
..Episodic generalized hypotonia (HP:0006852)

Term ID:

6852

Name:

Episodic generalized hypotonia

Synonym:

Episodic generalised hypotonia

Definition:

The occurrence of repeated episodes of generalized muscular hypotonia.

Comments:

Reference:

HP:0006852

Genes and Diseases:

Child Nodes:

Sister Nodes:

Generalized hypotonia due to defect at the neuromuscular junction (HP:0003397)

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:0006852	HP:0006852	Episodic generalized hypotonia	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.	150
HP:0006852	HP:0006852	Episodic generalized hypotonia	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6		63

Genes (2) :ATP1A3 SLC1A3

Diseases (2) :OMIM:601338 OMIM:612656

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