Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Breathing dysregulation (HP:0005957)help
..Starting node
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Decreased sensitivity to hypoxemia (HP:0005947)help
Term ID: 5947
Name: Decreased sensitivity to hypoxemia
Synonym: Decreased sensitivity to hypoxaemia; Decreased sensitivity to hypoxemia
Definition: Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.
Comments:
Reference: HP:0005947
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandNeonatal breathing dysregulation (HP:0002790) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005947HP:0005947Decreased sensitivity to hypoxemia0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133


Genes (1) :ELP1

Diseases (1) :OMIM:223900
 

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