ONTOLOGY REPORT - ANNOTATIONS


Term:ptosis
go back to main search page
Accession:DOID:0060260 term browser browse the term
Definition:Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
Synonyms:exact_synonym: Blepharoptoses;   Eyelid Ptoses;   Eyelid Ptosis;   blepharoptosis;   drooping eyelid
 primary_id: MESH:D001763
 alt_id: RDO:0000801
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
ptosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:1601216
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:7240710
RGD:11554173
RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phox2a paired-like homeobox 2a JBrowse link 1 166,893,734 166,898,252 RGD:7240710
RGD:8554872
congenital ptosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfhx4 zinc finger homeobox 4 JBrowse link 2 98,423,565 98,610,368 RGD:13592920
Congenital Ptosis, Hereditary 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfhx4 zinc finger homeobox 4 JBrowse link 2 98,423,565 98,610,368 RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brpf1 bromodomain and PHD finger containing, 1 JBrowse link 4 145,264,445 145,280,943 RGD:8554872
RGD:7240710
Ohdo syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:11554173
Ohdo Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910951
Oliver-McFarlane Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      eye and adnexa disease 1985
        eye disease 1985
          eyelid disease 70
            ptosis 17
              3MC syndrome 2 2
              Baraitser-Winter syndrome + 2
              Blepharoptosis Myopia Ectopia Lentis 0
              Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0
              Congenital Fibrosis of Extraocular Muscles, 2 1
              Congenital Myasthenic Syndrome, with Facial Dysmorphism 0
              Deafness Conductive Ptosis Skeletal Anomalies 0
              Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
              Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 1
              Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 0
              McPherson Robertson Cammarano Syndrome 0
              Mehta Lewis Patton Syndrome 0
              Ohdo syndrome + 3
              Oliver-McFarlane Syndrome 1
              Ophthalmoplegia Totalis with Ptosis and Miosis 0
              Ptosis, Strabismus, and Ectopic Pupils 0
              Treft Sanborn Carey Syndrome 0
              Tucker Syndrome 0
              Van Bogaert-Hozay Syndrome 0
              Vertebral Fusion Posterior Lumbosacral Blepharoptosis 0
              Widow's Peak Syndrome 0
              congenital ptosis + 1
              jaw-winking syndrome 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye adnexa disease 124
              eyelid disease 70
                ptosis 17
                  3MC syndrome 2 2
                  Baraitser-Winter syndrome + 2
                  Blepharoptosis Myopia Ectopia Lentis 0
                  Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0
                  Congenital Fibrosis of Extraocular Muscles, 2 1
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism 0
                  Deafness Conductive Ptosis Skeletal Anomalies 0
                  Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
                  Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
                  INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 1
                  Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 0
                  McPherson Robertson Cammarano Syndrome 0
                  Mehta Lewis Patton Syndrome 0
                  Ohdo syndrome + 3
                  Oliver-McFarlane Syndrome 1
                  Ophthalmoplegia Totalis with Ptosis and Miosis 0
                  Ptosis, Strabismus, and Ectopic Pupils 0
                  Treft Sanborn Carey Syndrome 0
                  Tucker Syndrome 0
                  Van Bogaert-Hozay Syndrome 0
                  Vertebral Fusion Posterior Lumbosacral Blepharoptosis 0
                  Widow's Peak Syndrome 0
                  congenital ptosis + 1
                  jaw-winking syndrome 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.