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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ptosis
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Accession:DOID:0060260 term browser browse the term
Definition:An eye disease characterized by the drooping or falling of the upper or lower eyelid. (DO)
Synonyms:exact_synonym: Eyelid Ptoses;   blepharoptoses;   blepharoptosis;   drooping eyelid;   eyelid ptosis
 primary_id: MESH:D001763
 xref: ICD10CM:H02.4;   ICD9CM:374.3;   NCI:C27298

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show annotations for term's descendants           Sort by:
ptosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:16770791 PMID:17041906 PMID:23536893 PMID:25007885 PMID:25741868 More... NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
G Foxc2 forkhead box C2 ISO lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA RGD PMID:11371511 RGD:1601216 NCBI chrNW_004936641:2,236,224...2,238,501
Ensembl chrNW_004936641:2,236,873...2,238,375 		JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31174552 NCBI chrNW_004936607:628,469...761,117
Ensembl chrNW_004936607:626,991...761,123 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 More... NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chrNW_004936508:12,162,553...12,281,812
Ensembl chrNW_004936508:12,162,547...12,281,820 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:23161826 PMID:23708187 PMID:25741868 PMID:26989088 PMID:28492532 More... NCBI chrNW_004936476:25,446,524...25,474,793
Ensembl chrNW_004936476:25,445,775...25,474,899 		JBrowse link
G Tuba4a tubulin alpha 4a ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:25741868 NCBI chrNW_004936569:1,668,265...1,672,532
Ensembl chrNW_004936569:1,668,878...1,672,514 		JBrowse link
G Tubb6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:25741868 NCBI chrNW_004936626:192,191...204,827
Ensembl chrNW_004936626:188,881...204,884 		JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin subfamily member 11 ISO ClinVar Annotator: match by term: 3MC syndrome 2 OMIM
ClinVar		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chrNW_004936532:1,757,288...1,776,053
Ensembl chrNW_004936532:1,749,894...1,776,001 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chrNW_004936578:2,804,460...2,857,731
Ensembl chrNW_004936578:2,804,460...2,869,582 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chrNW_004936765:667,107...670,627
Ensembl chrNW_004936765:667,053...670,672 		JBrowse link
G Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
Baraitser-Winter syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 More... NCBI chrNW_004936765:667,107...670,627
Ensembl chrNW_004936765:667,053...670,672 		JBrowse link
G Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
Baraitser-Winter syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
congenital fibrosis of the extraocular muscles 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2a paired like homeobox 2A ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 OMIM
ClinVar		 PMID:11600883 PMID:25741868 NCBI chrNW_004936498:1,539,939...1,544,469
Ensembl chrNW_004936498:1,540,484...1,544,360 		JBrowse link
congenital ptosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Congenital ptosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936496:6,807,388...6,914,960
Ensembl chrNW_004936496:6,807,403...6,914,987 		JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Congenital ptosis ClinVar PMID:25741868 PMID:32267004 NCBI chrNW_004936880:546,250...608,061
Ensembl chrNW_004936880:546,236...608,080 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Congenital ptosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936496:6,915,840...7,036,205
Ensembl chrNW_004936496:6,915,281...7,034,124 		JBrowse link
Congenital Ptosis, Hereditary 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfhx4 zinc finger homeobox 4 ISO ClinVar Annotator: match by term: Ptosis, hereditary congenital, 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004936702:1,694,685...1,872,942 JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brpf1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:27939639 PMID:27939640 PMID:28492532 More... NCBI chrNW_004936602:3,419,873...3,436,119
Ensembl chrNW_004936602:3,420,445...3,436,119 		JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar NCBI chrNW_004936583:2,975,604...2,976,248
Ensembl chrNW_004936583:2,975,604...2,976,248 		JBrowse link
jaw-winking syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chrNW_004936469:28,282,921...28,431,638
Ensembl chrNW_004936469:28,280,095...28,431,695 		JBrowse link
G Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chrNW_004936595:1,697,283...1,832,571
Ensembl chrNW_004936595:1,694,102...1,832,364 		JBrowse link
Ohdo syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome OMIM
ClinVar		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chrNW_004936769:1,197,596...1,248,173
Ensembl chrNW_004936769:1,197,588...1,248,200 		JBrowse link
Ohdo Syndrome, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked OMIM
ClinVar		 PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 More... NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195 		JBrowse link
Oliver-McFarlane syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome OMIM
ClinVar		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      skin disease 3576
        eyelid disease 94
          ptosis 29
            3MC syndrome 2 3
            Baraitser-Winter syndrome + 2
            Blepharoptosis, Myopia, and Ectopia Lentis 0
            Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0
            Conductive Deafness with Ptosis and Skeletal Anomalies 0
            Congenital Myasthenic Syndrome, with Facial Dysmorphism 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 2
            Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 0
            McPherson Robertson Cammarano Syndrome 0
            Mehta Lewis Patton Syndrome 0
            Ohdo syndrome + 4
            Oliver-McFarlane syndrome 1
            Ophthalmoplegia Totalis with Ptosis and Miosis 0
            Posterior Lumbosacral Vertebral Fusion with Blepharoptosis 0
            Ptosis, Strabismus, and Ectopic Pupils 0
            Treft Sanborn Carey Syndrome 0
            Tucker Syndrome 0
            Van Bogaert-Hozay Syndrome 0
            Widow's Peak Syndrome 0
            congenital fibrosis of the extraocular muscles 2 1
            congenital ptosis + 4
            jaw-winking syndrome 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            skin disease 3576
              eyelid disease 94
                ptosis 29
                  3MC syndrome 2 3
                  Baraitser-Winter syndrome + 2
                  Blepharoptosis, Myopia, and Ectopia Lentis 0
                  Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 0
                  Conductive Deafness with Ptosis and Skeletal Anomalies 0
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism 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 2
                  Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 0
                  McPherson Robertson Cammarano Syndrome 0
                  Mehta Lewis Patton Syndrome 0
                  Ohdo syndrome + 4
                  Oliver-McFarlane syndrome 1
                  Ophthalmoplegia Totalis with Ptosis and Miosis 0
                  Posterior Lumbosacral Vertebral Fusion with Blepharoptosis 0
                  Ptosis, Strabismus, and Ectopic Pupils 0
                  Treft Sanborn Carey Syndrome 0
                  Tucker Syndrome 0
                  Van Bogaert-Hozay Syndrome 0
                  Widow's Peak Syndrome 0
                  congenital fibrosis of the extraocular muscles 2 1
                  congenital ptosis + 4
                  jaw-winking syndrome 2
paths to the root