Human Phenotype Ontology 
Grandparent Node:
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Clinical modifier (HP:0012823)help
Parent Node:
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Severity (HP:0012824)help
..Starting node
..expand
Profound (HP:0012829)help
Term ID: 12829
Name: Profound
Synonym: Profound
Definition: Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean.
Comments:
Reference: HP:0012829
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBorderline (HP:0012827) help
..expandMild (HP:0012825) help
..expandModerate (HP:0012826) help
..expandSevere (HP:0012828) 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:0012829HP:0012829Profound0 CL E G H


Genes (0) :

Diseases (0) :
 

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