Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
Ptosis (HP:0000508)help
..Starting node
..expand
Progressive ptosis (HP:0007838)help
Term ID: 7838
Name: Progressive ptosis
Synonym: Progressive drooping of upper eyelid
Definition: A progressive form of ptosis.
Comments:
Reference: HP:0007838
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBilateral ptosis (HP:0001488) help
..expandCongenital ptosis (HP:0007970) help
..expandHorner syndrome (HP:0002277) help
..expandUnilateral ptosis (HP:0007687) 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:0007838HP:0007838Progressive ptosis0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0007838HP:0007838Progressive ptosis0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0007838HP:0007838Progressive ptosis0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10


Genes (3) :GIPC1 NOTCH2NLC PABPN1

Diseases (2) :ORPHA:98897 OMIM:164300
 

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