Human Phenotype Ontology 
Grandparent Node:
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Ptosis (HP:0000508)help
Parent Node:
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Bilateral ptosis (HP:0001488)help
Parent Node:
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Congenital ptosis (HP:0007970)help
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Congenital bilateral ptosis (HP:0007911)help
Term ID: 7911
Name: Congenital bilateral ptosis
Synonym: Congenital drooping of both upper eyelids; Ptosis, bilateral congenital; Ptosis, congenital bilateral
Definition:
Comments:
Reference: HP:0007911
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:0007911HP:0007911Congenital bilateral ptosis0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0007911HP:0007911Congenital bilateral ptosis0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0007911HP:0007911Congenital bilateral ptosis0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (3) :COL25A1 IGF1 ZFHX4

Diseases (2) :ORPHA:91411 ORPHA:73272
 

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