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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: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
 xref: ICD10CM:H02.4;   ICD9CM:374.3;   NCI:C27298
For additional species annotation, visit the Alliance of Genome Resources.

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 Foxc2 forkhead box C2 ISO lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA RGD PMID:11371511 RGD:1601216 NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31174552 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584 		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:2,740...3,694 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: EYELID PTOSIS ClinVar PMID:19303950 PMID:20157015 PMID:22857269 PMID:25741868 PMID:26467025 PMID:27890673 PMID:28492532 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Eyelid ptosis ClinVar PMID:11992261 PMID:14644997 PMID:15539800 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25741868 PMID:28363362 PMID:28492532 PMID:30311386 PMID:32581362 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: EYELID PTOSIS ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:16084090 PMID:16835904 PMID:16917943 PMID:19648156 PMID:19919814 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25558065 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Ptosis ClinVar PMID:32581362 NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Eyelid ptosis ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:30784236 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Eyelid ptosis ClinVar PMID:25741868 PMID:28492532 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437 		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 ClinVar Annotator: match by term: Carnevale syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:265050		 OMIM
ClinVar
CTD		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISS
ISO		 OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome		 MouseDO
ClinVar		 PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841 		JBrowse link
G Actg1 actin, gamma 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954 		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
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by OMIM:243310		 OMIM
ClinVar		 PMID:1415343 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:18414213 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25741868 PMID:25979418 PMID:26467025 PMID:28492532 PMID:29220674 PMID:29261186 PMID:32860008 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841 		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: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by OMIM:614583		 OMIM
ClinVar		 PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:29671837 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954 		JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536 		JBrowse link
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: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736		 ClinVar
OMIM		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28758091 PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576 		JBrowse link
Congenital Fibrosis of 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 OMIM:602078 OMIM
ClinVar		 PMID:11600883 NCBI chr 1:166,893,734...166,898,252
Ensembl chr 1:166,893,734...166,898,252 		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 chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569 		JBrowse link
G Zfhx4 zinc finger homeobox 4 ISS OMIM:178300 | OMIM:300245 MouseDO NCBI chr 2:98,423,565...98,610,368
Ensembl chr 2:98,423,569...98,610,368 		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 NCBI chr 2:98,423,565...98,610,368
Ensembl chr 2:98,423,569...98,610,368 		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: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis		 ClinVar
OMIM		 PMID:25741868 PMID:27939639 PMID:27939640 NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857 		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:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812 		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: Ohdo syndrome, X-linked
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE
DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)
ClinVar Annotator: match by OMIM:300895		 OMIM
ClinVar		 PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20981778 PMID:23091001 PMID:23395478 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26350204 PMID:28369444 PMID:32715471, PMID:23395478 RGD:12910951 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812 		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: Oliver-McFarlane syndrome
ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome		 ClinVar
OMIM		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25480986 PMID:25574898 PMID:25741868 PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      skin disease 2741
        eyelid disease 92
          ptosis 22
            3MC syndrome 2 3
            Baraitser-Winter syndrome + 2
            Blepharoptosis, Myopia, and 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 + 2
            jaw-winking syndrome 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            eyelid disease 92
              ptosis 22
                3MC syndrome 2 3
                Baraitser-Winter syndrome + 2
                Blepharoptosis, Myopia, and 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 + 2
                jaw-winking syndrome 0
paths to the root