Human Phenotype Ontology 
Grandparent Node:
Abnormal blood gas level (HP:0012415)help
Parent Node:
Hypoxemia (HP:0012418)help
..Starting node
Oxygen desaturation on exertion (HP:0030874)help
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.
Reference: HP:0030874
Genes and Diseases:
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030874HP:0030874Oxygen desaturation on exertion0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0030874HP:0030874Oxygen desaturation on exertion0SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040282 - Frequent7

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.