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:
Abnormal pattern of respiration (HP:0002793)

Parent Node:
Tachypnea (HP:0002789)

..Starting node
..Episodic tachypnea (HP:0002876)

Term ID:

2876

Name:

Episodic tachypnea

Synonym:

Hyperpnea, episodic

Definition:

Episodes of very rapid breathing.

Comments:

Reference:

HP:0002876

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0002876	HP:0002876	Episodic tachypnea	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0002876	HP:0002876	Episodic tachypnea	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	175
HP:0002876	HP:0002876	Episodic tachypnea	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0002876	HP:0002876	Episodic tachypnea	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	62
HP:0002876	HP:0002876	Episodic tachypnea	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0002876	HP:0002876	Episodic tachypnea	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002876	HP:0002876	Episodic tachypnea	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	28
HP:0002876	HP:0002876	Episodic tachypnea	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	34
HP:0002876	HP:0002876	Episodic tachypnea	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0002876	HP:0002876	Episodic tachypnea	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0002876	HP:0002876	Episodic tachypnea	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	405
HP:0002876	HP:0002876	Episodic tachypnea	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	5
HP:0002876	HP:0002876	Episodic tachypnea	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	7
HP:0002876	HP:0002876	Episodic tachypnea	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0002876	HP:0002876	Episodic tachypnea	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	90
HP:0002876	HP:0002876	Episodic tachypnea	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002876	HP:0002876	Episodic tachypnea	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0002876	HP:0002876	Episodic tachypnea	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	57
HP:0002876	HP:0002876	Episodic tachypnea	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0002876	HP:0002876	Episodic tachypnea	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0002876	HP:0002876	Episodic tachypnea	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	5
HP:0002876	HP:0002876	Episodic tachypnea	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	31
HP:0002876	HP:0002876	Episodic tachypnea	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	111
HP:0002876	HP:0002876	Episodic tachypnea	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0002876	HP:0002876	Episodic tachypnea	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002876	HP:0002876	Episodic tachypnea	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	24
HP:0002876	HP:0002876	Episodic tachypnea	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	4
HP:0002876	HP:0002876	Episodic tachypnea	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	167
HP:0002876	HP:0002876	Episodic tachypnea	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	950
HP:0002876	HP:0002876	Episodic tachypnea	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	127
HP:0002876	HP:0002876	Episodic tachypnea	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	1
HP:0002876	HP:0002876	Episodic tachypnea	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	201
HP:0002876	HP:0002876	Episodic tachypnea	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	1
HP:0002876	HP:0002876	Episodic tachypnea	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	4
HP:0002876	HP:0002876	Episodic tachypnea	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.	167
HP:0002876	HP:0002876	Episodic tachypnea	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	135
HP:0002876	HP:0002876	Episodic tachypnea	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	124
HP:0002876	HP:0002876	Episodic tachypnea	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	45
HP:0002876	HP:0002876	Episodic tachypnea	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	76
HP:0002876	HP:0002876	Episodic tachypnea	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	31
HP:0002876	HP:0002876	Episodic tachypnea	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0002876	HP:0002876	Episodic tachypnea	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	45
HP:0002876	HP:0002876	Episodic tachypnea	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002876	HP:0002876	Episodic tachypnea	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	82
HP:0002876	HP:0002876	Episodic tachypnea	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	166
HP:0002876	HP:0002876	Episodic tachypnea	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0002876	HP:0002876	Episodic tachypnea	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	61
HP:0002876	HP:0002876	Episodic tachypnea	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17

Genes (44) :ACADVL AHI1 ARL13B ARL3 ARMC9 B9D1 B9D2 CBY1 CC2D2A CDKL5 CEP104 CEP120 CEP290 CEP41 CPLANE1 CSPP1 FAM149B1 FBP1 GABBR2 HYLS1 INPP5E KATNIP KIAA0586 KIAA0753 KIF7 MECP2 MKS1 NTNG1 OFD1 PDE6D PIBF1 RPGRIP1L SMC1A SUFU TCTN1 TCTN2 TCTN3 TMEM216 TMEM218 TMEM237 TMEM67 TOGARAM1 TOPORS UQCRC2

Diseases (12) :ORPHA:26793 ORPHA:475 OMIM:608629 OMIM:612285 ORPHA:3095 OMIM:610188 ORPHA:2754 ORPHA:348 OMIM:213300 OMIM:611560 OMIM:608091 OMIM:615160

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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