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 respiratory system physiology (HP:0002795)

Parent Node:
Abnormal pattern of respiration (HP:0002793)

..Starting node
..Irregular respiration (HP:0012195)

Term ID:

12195

Name:

Irregular respiration

Synonym:

Irregular respiratory rhythm

Definition:

Uneven rhythm of breathing.

Comments:

Reference:

HP:0012195

Genes and Diseases:

Child Nodes:

Sister Nodes:

Apnea (HP:0002104)

Cheyne-Stokes respiration (HP:0012196)

Hyperventilation (HP:0002883)

Hypopnea (HP:0040213)

Hypoventilation (HP:0002791)

Night gasping (HP:0031503)

Paradoxical respiration (HP:0030207)

Tachypnea (HP:0002789)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012195	HP:0012195	Irregular respiration	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	40

Genes (1) :SCO2

Diseases (1) :OMIM:604377

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