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:
Paralysis (HP:0003470)

Parent Node:
Periodic paralysis (HP:0003768)

..Starting node
..Periodic hypokalemic paresis (HP:0008153)

Term ID:

8153

Name:

Periodic hypokalemic paresis

Synonym:

Hypokalemic periodic paresis

Definition:

Episodes of muscle weakness associated with reduced levels of potassium in the blood.

Comments:

Reference:

HP:0008153

Genes and Diseases:

Child Nodes:

Sister Nodes:

Periodic hyperkalemic paralysis (HP:0007215)

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:0008153	HP:0008153	Periodic hypokalemic paresis	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	247
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate	247
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	73
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate	10
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040282 - Frequent	193
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040282 - Frequent	128
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	263
HP:0008153	HP:0008153	Periodic hypokalemic paresis	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040283 - Occasional	263

Genes (9) :CA2 CACNA1S CDH23 GABRA3 KCNE3 KCNJ18 KCNJ2 KCNJ5 SCN4A

Diseases (7) :OMIM:259730 ORPHA:681 ORPHA:79102 ORPHA:91347 OMIM:170390 ORPHA:37553 ORPHA:684

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