Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
Ptosis (HP:0000508)help
..Starting node
..expand
Bilateral ptosis (HP:0001488)help
Term ID: 1488
Name: Bilateral ptosis
Synonym: Drooping of both upper eyelids
Definition:
Comments:
Reference: HP:0001488
Genes and Diseases:
 
       Child Nodes:
........expandCongenital bilateral ptosis (HP:0007911) help

 Sister Nodes: 
..expandCongenital ptosis (HP:0007970) 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:0001488HP:0001488Bilateral ptosis0ABCC8 CL E G H683399885ORPHA1661110859600509
HP:0001488HP:0001488Bilateral ptosis0ABCC8 CL E G H683399886ORPHA1661110859600509
HP:0001488HP:0001488Bilateral ptosis0AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1487303602981
HP:0001488HP:0001488Bilateral ptosis0COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM182205604677
HP:0001488HP:0001488Bilateral ptosis0COLQ CL E G H829298915ORPHA1703572226603033
HP:0001488HP:0001488Bilateral ptosis0DGUOK CL E G H1716329314ORPHA1641342858601465
HP:0001488HP:0001488Bilateral ptosis0GCK CL E G H264599885ORPHA18485514195138079
HP:0001488HP:0001488Bilateral ptosis0HYMAI CL E G H5706199886ORPHA1165326606546
HP:0001488HP:0001488Bilateral ptosis0INS CL E G H363099885ORPHA1831286081176730
HP:0001488HP:0001488Bilateral ptosis0KCNJ11 CL E G H376799885ORPHA11872986257600937
HP:0001488HP:0001488Bilateral ptosis0KCNJ11 CL E G H376799886ORPHA11872986257600937
HP:0001488HP:0001488Bilateral ptosis0KIF21A CL E G H55605135700Fibrosis of extraocular muscles, congenital, 1135700C1851102OMIM11717219349608283
HP:0001488HP:0001488Bilateral ptosis0LAMB2 CL E G H391398915ORPHA11274646487150325
HP:0001488HP:0001488Bilateral ptosis0PDX1 CL E G H365199885ORPHA133996107600733
HP:0001488HP:0001488Bilateral ptosis0PHOX2A CL E G H401602078Fibrosis of extraocular muscles, congenital, 2602078C1865915OMIM1519691602753
HP:0001488HP:0001488Bilateral ptosis0PLAGL1 CL E G H532599886ORPHA12309046603044
HP:0001488HP:0001488Bilateral ptosis0RAD21 CL E G H5885611376Mungan syndrome611376C1969653OMIM1132309811606462
HP:0001488HP:0001488Bilateral ptosis0RNASEH1 CL E G H246243329336ORPHA148518466604123
HP:0001488HP:0001488Bilateral ptosis0RRM2B CL E G H50484329336ORPHA14325317296604712
HP:0001488HP:0001488Bilateral ptosis0STAT3 CL E G H677499885ORPHA115539311364102582
HP:0001488HP:0001488Bilateral ptosis0TUBB3 CL E G H10381300570ORPHA12618820772602661
HP:0001488HP:0001488Bilateral ptosis0ZFP57 CL E G H34617199886ORPHA1157018791612192
HP:0001488HP:0001488Bilateral ptosis1ABCC8 CL E G H683399885ORPHA1661110859600509
HP:0001488HP:0001488Bilateral ptosis1ABCC8 CL E G H683399886ORPHA1661110859600509
HP:0001488HP:0001488Bilateral ptosis1AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1487303602981
HP:0001488HP:0001488Bilateral ptosis1COL4A3BP CL E G H10087616351Mental retardation, autosomal dominant 34616351C4225156OMIM182205604677
HP:0001488HP:0001488Bilateral ptosis1COLQ CL E G H829298915ORPHA1703572226603033
HP:0001488HP:0001488Bilateral ptosis1DGUOK CL E G H1716329314ORPHA1641342858601465
HP:0001488HP:0001488Bilateral ptosis1GCK CL E G H264599885ORPHA18485514195138079
HP:0001488HP:0001488Bilateral ptosis1HYMAI CL E G H5706199886ORPHA1165326606546
HP:0001488HP:0001488Bilateral ptosis1INS CL E G H363099885ORPHA1831286081176730
HP:0001488HP:0001488Bilateral ptosis1KCNJ11 CL E G H376799886ORPHA11872986257600937
HP:0001488HP:0001488Bilateral ptosis1KCNJ11 CL E G H376799885ORPHA11872986257600937
HP:0001488HP:0001488Bilateral ptosis1KIF21A CL E G H55605135700Fibrosis of extraocular muscles, congenital, 1135700C1851102OMIM11717219349608283
HP:0001488HP:0001488Bilateral ptosis1LAMB2 CL E G H391398915ORPHA11274646487150325
HP:0001488HP:0001488Bilateral ptosis1PDX1 CL E G H365199885ORPHA133996107600733
HP:0001488HP:0001488Bilateral ptosis1PHOX2A CL E G H401602078Fibrosis of extraocular muscles, congenital, 2602078C1865915OMIM1519691602753
HP:0001488HP:0001488Bilateral ptosis1PLAGL1 CL E G H532599886ORPHA12309046603044
HP:0001488HP:0001488Bilateral ptosis1RAD21 CL E G H5885611376Mungan syndrome611376C1969653OMIM1132309811606462
HP:0001488HP:0001488Bilateral ptosis1RNASEH1 CL E G H246243329336ORPHA148518466604123
HP:0001488HP:0001488Bilateral ptosis1RRM2B CL E G H50484329336ORPHA14325317296604712
HP:0001488HP:0001488Bilateral ptosis1STAT3 CL E G H677499885ORPHA115539311364102582
HP:0001488HP:0001488Bilateral ptosis1TUBB3 CL E G H10381300570ORPHA12618820772602661
HP:0001488HP:0001488Bilateral ptosis1ZFP57 CL E G H34617199886ORPHA1157018791612192
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001488HP:0001488Bilateral ptosis0ABCC8 CL E G H683379134ORPHA0661110859600509
HP:0001488HP:0001488Bilateral ptosis0KCNJ11 CL E G H376779134ORPHA01872986257600937
HP:0001488HP:0001488Bilateral ptosis0PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA098011428582612349
HP:0001488HP:0001488Bilateral ptosis0PLEC CL E G H5339254361ORPHA010433369069601282
HP:0001488HP:0001488Bilateral ptosis0TBC1D24 CL E G H5746579500ORPHA05665929203613577
HP:0001488HP:0001488Bilateral ptosis0TK2 CL E G H7084254875ORPHA06022811831188250
HP:0001488HP:0001488Bilateral ptosis1ABCC8 CL E G H683379134ORPHA0661110859600509
HP:0001488HP:0001488Bilateral ptosis1KCNJ11 CL E G H376779134ORPHA01872986257600937
HP:0001488HP:0001488Bilateral ptosis1PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA098011428582612349
HP:0001488HP:0001488Bilateral ptosis1PLEC CL E G H5339254361ORPHA010433369069601282
HP:0001488HP:0001488Bilateral ptosis1TBC1D24 CL E G H5746579500ORPHA05665929203613577
HP:0001488HP:0001488Bilateral ptosis1TK2 CL E G H7084254875ORPHA06022811831188250


Genes (25) :ABCC8 AEBP1 COL4A3BP COLQ DGUOK GCK HYMAI IGF1 INS KCNJ11 KIF21A LAMB2 PAH PDX1 PHOX2A PLAGL1 PLEC RAD21 RNASEH1 RRM2B STAT3 TBC1D24 TK2 TUBB3 ZFP57

Diseases (17) :99886 99885 79134 618000 616351 98915 329314 135700 2209 602078 254361 611376 329336 79500 254875 300570 73272
 

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