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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Unilateral ptosis (HP:0007687)help
Term ID: 7687
Name: Unilateral ptosis
Synonym: Dropping of one upper eyelid
Definition: A unilateral form of ptosis.
Comments:
Reference: HP:0007687
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBilateral ptosis (HP:0001488) help
..expandCongenital ptosis (HP:0007970) help
..expandHorner syndrome (HP:0002277) help
..expandProgressive ptosis (HP:0007838) 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:0007687HP:0007687Unilateral ptosis0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0007687HP:0007687Unilateral ptosis0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0007687HP:0007687Unilateral ptosis0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0007687HP:0007687Unilateral ptosis0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0007687HP:0007687Unilateral ptosis0HEATR3 CL E G H5502726087OMIM:620072
HP:0007687HP:0007687Unilateral ptosis0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0007687HP:0007687Unilateral ptosis0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0007687HP:0007687Unilateral ptosis0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0007687HP:0007687Unilateral ptosis0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0007687HP:0007687Unilateral ptosis0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0007687HP:0007687Unilateral ptosis0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0007687HP:0007687Unilateral ptosis0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0007687HP:0007687Unilateral ptosis0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (13) :ANAPC7 CAPN15 COL25A1 DDX59 HEATR3 HOXB1 MED12L MID2 PUF60 SMC1A SMS WDR35 ZFHX4

Diseases (12) :OMIM:619699 OMIM:619318 ORPHA:91411 OMIM:174300 OMIM:620072 OMIM:614744 OMIM:618872 OMIM:300928 ORPHA:508498 OMIM:301044 ORPHA:3063 OMIM:613610
 

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