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 blood gas level (HP:0012415)

Parent Node:
Hypoxemia (HP:0012418)

..Starting node
..Oxygen desaturation on exertion (HP:0030874)

Term ID:

30874

Name:

Oxygen desaturation on exertion

Synonym:

O2 desaturation on exertion

Definition:

Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.

Comments:

Reference:

HP:0030874

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:0030874	HP:0030874	Oxygen desaturation on exertion	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0030874	HP:0030874	Oxygen desaturation on exertion	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent	7

Genes (2) :NKX2-1 SLC34A2

Diseases (2) :OMIM:610978 ORPHA:60025

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