Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the respiratory system (HP:0002086)help
Parent Node:
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Abnormal respiratory system physiology (HP:0002795)help
..Starting node
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Abnormal blood gas level (HP:0012415)help
Term ID: 12415
Name: Abnormal blood gas level
Synonym: Abnormal blood gas level
Definition: An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.
Comments:
Reference: HP:0012415
Genes and Diseases:
 
       Child Nodes:
........expandHypercapnia (HP:0012416) help
........expandHypocapnia (HP:0012417) help
........expandHypoxemia (HP:0012418) help
................... HP:0030874 Oxygen desaturation on exertion
........expandHyperoxemia (HP:0012419) help

 Sister Nodes: 
..expandAbnormal breath sound (HP:0030829) help
..expandAbnormal bronchus physiology (HP:0025427) help
..expandAbnormal mucociliary clearance (HP:0031602) help
..expandAbnormal nasal mucus secretion (HP:0031416) help
..expandAbnormal pattern of respiration (HP:0002793) help
..expandAbnormal respiratory motile cilium physiology (HP:0012261) help
..expandAbnormal response to short acting pulmonary vasodilator (HP:0030893) help
..expandAbnormality of pulmonary circulation (HP:0030875) help
..expandAbnormality on pulmonary function testing (HP:0030878) help
..expandAirway obstruction (HP:0006536) help
..expandAspiration (HP:0002835) help
..expandAsthma (HP:0002099) help
..expandBreathing dysregulation (HP:0005957) help
..expandCough (HP:0012735) help
..expandCyanosis (HP:0000961) help
..expandDecreased pulmonary function (HP:0005952) help
..expandDyspnea (HP:0002094) help
..expandRecurrent singultus (HP:0100247) help
..expandReduced vital capacity (HP:0002792) help
..expandRespiratory insufficiency (HP:0002093) help
..expandRestrictive ventilatory defect (HP:0002091) help
..expandSneeze (HP:0025095) help
..expandSnoring (HP:0025267) help
..expandTracheal tug on inspiration (HP:0025008) help
..expandUpper airway obstruction (HP:0002781) help
..expandWeakness of muscles of respiration (HP:0004347) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012415HP:0012415Abnormal blood gas level0 CL E G H
HP:0012415HP:0500164Abnormal blood carbon dioxide level1 CL E G H
HP:0012415HP:0500165Abnormal blood oxygen level1 CL E G H
HP:0012415HP:0012419Hyperoxemia2 CL E G H
HP:0012415HP:0012417Hypocapnia2 CL E G H
HP:0012415HP:0012416Hypercapnia2 CL E G H
HP:0012415HP:0012418Hypoxemia2 CL E G H
HP:0012415HP:0034038Silent hypoxemia3 CL E G H
HP:0012415HP:0030874Oxygen desaturation on exertion3 CL E G H
HP:0012415HP:0033367Orthodeoxia3 CL E G H


Genes (13) :ASCL1 CACNA1S CSF2RA CSF2RB EDN3 FBN1 GDNF HBB OAS1 PHOX2B RET RYR1 SLC35A1

Diseases (7) :209880 423 264675 284979 603903 232 238459
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.