Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Ptosis (HP:0000508)help
..Starting node
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Congenital ptosis (HP:0007970)help
Term ID: 7970
Name: Congenital ptosis
Synonym: Congenital drooping upper eyelid
Definition:
Comments:
Reference: HP:0007970
Genes and Diseases:
 
       Child Nodes:
........expandCongenital bilateral ptosis (HP:0007911) help

 Sister Nodes: 
..expandBilateral ptosis (HP:0001488) help
..expandHorner syndrome (HP:0002277) help
..expandProgressive ptosis (HP:0007838) help
..expandUnilateral ptosis (HP:0007687) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007970HP:0007970Congenital ptosis0DNA2 CL E G H1763352470ORPHA182062939601810
HP:0007970HP:0007970Congenital ptosis0ZFHX4 CL E G H79776178300Ptosis, hereditary congenital 1178300C1867438OMIM1157530939606940
HP:0007970HP:0007970Congenital ptosis1DNA2 CL E G H1763352470ORPHA182062939601810
HP:0007970HP:0007970Congenital ptosis1ZFHX4 CL E G H79776178300Ptosis, hereditary congenital 1178300C1867438OMIM1157530939606940
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (3) :DNA2 IGF1 ZFHX4

Diseases (3) :352470 178300 73272
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.