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:
Hyperventilation (HP:0002883)

..Starting node
..Intermittent hyperventilation (HP:0004879)

Term ID:

4879

Name:

Intermittent hyperventilation

Synonym:

Episodic hyperventilation; Intermittent overbreathing

Definition:

Episodic hyperventilation.

Comments:

Reference:

HP:0004879

Genes and Diseases:

Child Nodes:

........

Intermittent hyperpnea at rest (HP:0005941)

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:0004879	HP:0004879	Intermittent hyperventilation	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0004879	HP:0004879	Intermittent hyperventilation	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0004879	HP:0004879	Intermittent hyperventilation	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0004879	HP:0004879	Intermittent hyperventilation	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.	950
HP:0004879	HP:0004879	Intermittent hyperventilation	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0004879	HP:0005941	Intermittent hyperpnea at rest	1	CL E G H

Genes (5) :CASK CNTNAP2 FBP1 MECP2 TCF4

Diseases (5) :OMIM:300749 ORPHA:163681 ORPHA:348 OMIM:312750 OMIM:610954

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