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:
Abnormal respiratory system physiology (HP:0002795)

Grandparent Node:
Muscle weakness (HP:0001324)

Parent Node:
Paralysis (HP:0003470)

Parent Node:
Weakness of muscles of respiration (HP:0004347)

..Starting node
..Respiratory paralysis (HP:0002203)

Term ID:

2203

Name:

Respiratory paralysis

Synonym:

Definition:

Inability to move the muscles of respiration.

Comments:

Reference:

HP:0002203

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced maximal expiratory pressure (HP:0012497)

Reduced maximal inspiratory pressure (HP:0012496)

Respiratory insufficiency due to muscle weakness (HP:0002747)

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:0002203	HP:0002203	Respiratory paralysis	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.	62
HP:0002203	HP:0002203	Respiratory paralysis	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	247
HP:0002203	HP:0002203	Respiratory paralysis	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare	247
HP:0002203	HP:0002203	Respiratory paralysis	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0002203	HP:0002203	Respiratory paralysis	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare
HP:0002203	HP:0002203	Respiratory paralysis	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0002203	HP:0002203	Respiratory paralysis	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0002203	HP:0002203	Respiratory paralysis	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	73
HP:0002203	HP:0002203	Respiratory paralysis	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare	10
HP:0002203	HP:0002203	Respiratory paralysis	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0002203	HP:0002203	Respiratory paralysis	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	263

Genes (9) :ALAD CACNA1S CPOX GABRA3 HMBS KCNE3 KCNJ18 PPOX SCN4A

Diseases (7) :OMIM:612740 ORPHA:681 ORPHA:79102 OMIM:121300 ORPHA:79276 OMIM:176000 ORPHA:79473

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