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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007911HP:0007911Congenital bilateral ptosis0IGF1 CL E G H347973272ORPHA01705464147440
HP:0007911HP:0007911Congenital bilateral ptosis0IGF1 CL E G H347973272ORPHA01785464147440


Genes (1) :IGF1

Diseases (1) :73272
 

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