Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Grandparent Node:
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Dermatological manifestations of systemic disorders (HP:0001005)help
Parent Node:
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Cyanosis (HP:0000961)help
..Starting node
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Cyanotic episode (HP:0200048)help
Term ID: 200048
Name: Cyanotic episode
Synonym:
Definition:
Comments:
Reference: HP:0200048
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcrocyanosis (HP:0001063) 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:0200048HP:0200048Cyanotic episode0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0200048HP:0200048Cyanotic episode0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0200048HP:0200048Cyanotic episode0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0200048HP:0200048Cyanotic episode0PSAT1 CL E G H2996819129OMIM:610992Phosphoserine aminotransferase deficiency27
HP:0200048HP:0200048Cyanotic episode0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0200048HP:0200048Cyanotic episode0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0200048HP:0200048Cyanotic episode0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0200048HP:0200048Cyanotic episode0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0200048HP:0200048Cyanotic episode0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318


Genes (8) :GABRA1 GABRG2 PCDH19 PSAT1 SCN1A SCN1B SCN2A SCN9A

Diseases (3) :ORPHA:33069 OMIM:610992 ORPHA:284417
 

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