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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007970HP:0007970Congenital ptosis0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040282 - Frequent8
HP:0007970HP:0007970Congenital ptosis0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0007970HP:0007970Congenital ptosis0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0007970HP:0007970Congenital ptosis0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0007970HP:0007970Congenital ptosis0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0007970HP:0007970Congenital ptosis0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0007970HP:0007970Congenital ptosis0ZFHX4 CL E G H7977630939OMIM:178300Ptosis, hereditary congenital 1.
HP:0007970HP:0007911Congenital bilateral ptosis1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0007970HP:0007911Congenital bilateral ptosis1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0007970HP:0007911Congenital bilateral ptosis1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (6) :BRCC3 COL25A1 DNA2 IGF1 TRIO ZFHX4

Diseases (6) :ORPHA:280679 ORPHA:91411 ORPHA:352470 ORPHA:73272 ORPHA:476126 OMIM:178300
 

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