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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


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 Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:25741868 NCBI chr10:55,829,835...55,838,853
Ensembl chr10:55,829,836...55,834,154 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:16770791 PMID:17041906 PMID:23536893 PMID:25007885 PMID:25741868 More... NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835 		JBrowse link
G Foxc2 forkhead box C2 ISO lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA RGD PMID:11371511 RGD:1601216 NCBI chr19:66,094,718...66,097,420
Ensembl chr19:66,094,700...66,153,977 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31174552 NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:124,706,080...124,867,239 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:25741868 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685 		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 chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:11992261 PMID:14644997 PMID:15987685 PMID:16358218 PMID:17020470 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		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:20301303 PMID:21387466 More... NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350 		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 chr20:5,028,226...5,058,519
Ensembl chr20:5,026,707...5,057,751 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:25741868 PMID:39033378 NCBI chr 9:84,158,871...84,174,041
Ensembl chr 9:84,158,280...84,162,584 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:25741868 NCBI chr18:63,213,287...63,222,926
Ensembl chr18:63,213,279...63,224,303 		JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition 		OMIM
CTD
ClinVar		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:90,839,081...90,909,922
Ensembl chr11:90,839,061...90,917,470 		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 chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012 		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:2786228 PMID:9714430 PMID:10327243 PMID:12325076 More... NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		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: Baraitser-Winter syndrome 1 OMIM
ClinVar		 PMID:1415343 PMID:2786228 PMID:3445035 PMID:9536098 PMID:9714430 More... NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:25741868 PMID:31231230 PMID:32028042 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:17,207,315...17,222,975
Ensembl chr12:17,207,315...17,222,467 		JBrowse link
G Fbxl18 F-box and leucine-rich repeat protein 18 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:16,781,901...16,812,728
Ensembl chr12:16,789,665...16,814,240 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:16,710,601...16,723,734
Ensembl chr12:16,710,601...16,723,734 		JBrowse link
G Mmd2 monocyte to macrophage differentiation-associated 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:17,075,870...17,123,255
Ensembl chr12:17,076,260...17,123,904 		JBrowse link
G Papolb poly(A) polymerase beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:17,157,757...17,160,103
Ensembl chr12:17,155,435...17,166,620 		JBrowse link
G Radil Rap associating with DIL domain ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:17,137,872...17,202,021
Ensembl chr12:17,134,935...17,202,021 		JBrowse link
G Rbak RB-associated KRAB zinc finger ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:16,488,895...16,502,523
Ensembl chr12:16,488,950...16,502,733 		JBrowse link
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:16,568,327...16,689,868
Ensembl chr12:16,568,347...16,690,989 		JBrowse link
G Slc29a4 solute carrier family 29 member 4 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:16,967,047...16,998,276
Ensembl chr12:16,967,047...16,988,338 		JBrowse link
G Tnrc18 trinucleotide repeat containing 18 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:16,868,930...16,965,224
Ensembl chr12:16,868,978...16,965,217 		JBrowse link
G Wipi2 WD repeat domain, phosphoinositide interacting 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr12:17,024,876...17,053,306
Ensembl chr12:17,024,878...17,071,406 		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 chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 		OMIM
CTD
ClinVar		 PMID:11600883 PMID:25741868 NCBI chr 1:165,590,757...165,595,122
Ensembl chr 1:165,590,757...165,595,122 		JBrowse link
congenital ptosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Congenital ptosis ClinVar PMID:25741868 PMID:32267004 NCBI chr15:27,379,285...27,438,959
Ensembl chr15:27,379,285...27,417,851 		JBrowse link
hereditary congenital ptosis 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 | ClinVar Annotator: match by term: ZFHX4-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:98,131,996...98,321,070
Ensembl chr 2:98,131,996...98,315,469 		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:27939639 PMID:27939640 PMID:28492532 PMID:32010779 More... NCBI chr 4:148,011,977...148,028,431
Ensembl chr 4:148,011,931...148,028,424 		JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar NCBI chr 6:90,280,962...90,281,982
Ensembl chr 6:90,081,656...90,287,434 		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 chr 3:54,441,266...54,591,630
Ensembl chr 3:54,441,310...54,594,813 		JBrowse link
G Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chr10:53,891,955...54,024,032
Ensembl chr10:53,893,166...54,024,036 		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 chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		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 DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: KAT6B-related multiple congenital anomalies syndrome | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson syndrome | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:47,844,368...47,890,702
Ensembl chr12:47,844,369...47,890,702 		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
DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human) 		OMIM
ClinVar
RGD		 PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 More... RGD:12910951 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      skin disease 4336
        eyelid disease 114
          ptosis 40
            3MC syndrome 2 3
            Baraitser-Winter syndrome + 13
            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 + 2
            jaw-winking syndrome 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              eyelid disease 114
                ptosis 40
                  3MC syndrome 2 3
                  Baraitser-Winter syndrome + 13
                  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 + 2
                  jaw-winking syndrome 2
paths to the root