Human Phenotype Ontology 
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Facial cyanosis (HP:0034031)help
Term ID: 34031
Name: Facial cyanosis
Synonym: Bluish face; Cyanotic face
Definition: Bluish discoloration of one or more regions of the face.
Comments:
Reference: HP:0034031
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:0034031HP:0034031Facial cyanosis0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsy528
HP:0034031HP:0034031Facial cyanosis0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsy302
HP:0034031HP:0034030Lip cyanosis1 CL E G H
HP:0034031HP:0032556Circumoral cyanosis1KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent528
HP:0034031HP:0032556Circumoral cyanosis1KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent302


Genes (2) :KCNQ2 KCNQ3

Diseases (1) :ORPHA:1949
 

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