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:
Dyspnea (HP:0002094)

Parent Node:
Respiratory distress (HP:0002098)

..Starting node
..Episodic respiratory distress (HP:0004885)

Term ID:

4885

Name:

Episodic respiratory distress

Synonym:

Episodic difficulty breathing; respiratory distress, episodic

Definition:

Comments:

Reference:

HP:0004885

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intercostal retractions (HP:0030864)

Nasal flaring (HP:0030863)

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:0004885	HP:0004885	Episodic respiratory distress	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0004885	HP:0004885	Episodic respiratory distress	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0004885	HP:0004885	Episodic respiratory distress	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0004885	HP:0004885	Episodic respiratory distress	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0004885	HP:0004885	Episodic respiratory distress	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0004885	HP:0004885	Episodic respiratory distress	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0004885	HP:0004885	Episodic respiratory distress	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0004885	HP:0004885	Episodic respiratory distress	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0004885	HP:0004885	Episodic respiratory distress	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0004885	HP:0004885	Episodic respiratory distress	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0004885	HP:0004885	Episodic respiratory distress	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2

Genes (21) :AGRN ATP6 CHAT COL13A1 MYO9A ND1 ND2 ND3 ND4 ND5 ND6 SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 TRNK TRNL1 TRNV TRNW VAMP1

Diseases (2) :ORPHA:98914 ORPHA:255210

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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