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ONTOLOGY REPORT - ANNOTATIONS


Term:eyelid disease
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Accession:DOID:530 term browser browse the term
Definition:Diseases involving the EYELIDS.
Synonyms:exact_synonym: eyelid diseases
 primary_id: MESH:D005141;   RDO:0003824
 xref: NCI:C26768
For additional species annotation, visit the Alliance of Genome Resources.


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eyelid disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:1601217
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
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:8554872
RGD:11554173
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
RGD:8554872
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
Barber-Say syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:8554872
RGD:7240710
Benign Essential Blepharospasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:7240710
blepharitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:7349379
blepharocheilodontic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
blepharocheilodontic syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:7240710
blepharocheilodontic syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnd1 catenin delta 1 JBrowse link 3 72,001,904 72,053,047 RGD:8554872
RGD:7240710
blepharophimosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Snx9 sorting nexin 9 JBrowse link 1 46,780,142 46,826,250 RGD:8554872
G Tmem242 transmembrane protein 242 JBrowse link 1 46,302,546 46,329,885 RGD:8554872
G Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 JBrowse link 1 46,378,807 46,658,527 RGD:8554872
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
RGD:11554173
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:8554872
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 COPI coat complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:8554872
RGD:11554173
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 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
blepharospasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:734899
RGD:11554173
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
Cryptophthalmos, Unilateral or Bilateral, Isolated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554181
RGD:11554185
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:8554872
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
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872
RGD:7240710
RGD:11554173
Marden Walker Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scarf2 scavenger receptor class F, member 2 JBrowse link 11 87,722,350 87,733,734 RGD:7240710
RGD:8554872
Marden-Walker Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
Meibomian Gland Dysfunction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8551707
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zdbf2 zinc finger, DBF-type containing 2 JBrowse link 9 70,052,088 70,090,847 RGD:8554872
Neovascular Inflammatory Vitreoretinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn5 calpain 5 JBrowse link 1 163,073,134 163,129,736 RGD:7240710
RGD:8554872
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
Parkinson's disease 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo7 F-box protein 7 JBrowse link 7 23,815,246 23,843,505 RGD:7240710
RGD:8554872
RGD:11554173
persistent hyperplastic primary vitreous term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atoh7 atonal bHLH transcription factor 7 JBrowse link 20 27,082,961 27,083,410 RGD:13592920
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:8552304
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8551891
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atoh7 atonal bHLH transcription factor 7 JBrowse link 20 27,082,961 27,083,410 RGD:7240710
RGD:8554872
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:8554872
proliferative vitreoretinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:8695978
G Apoa4 apolipoprotein A4 JBrowse link 8 50,536,983 50,539,371 RGD:5685692
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655629
G Capn5 calpain 5 JBrowse link 1 163,073,134 163,129,736 RGD:8554872
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068932
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:8661680
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8655597
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548540
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8547581
G Igfbp6 insulin-like growth factor binding protein 6 JBrowse link 7 143,749,385 143,754,018 RGD:10411880
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829748
G Kng2 kininogen 2 JBrowse link 11 81,509,185 81,516,759 RGD:10411880
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:1599835
RGD:11554173
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:8548782
ptosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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 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
Schopf-Schulz-Passarge Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:7240710
RGD:8554872
Stickler Syndrome, Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:7240710
RGD:8554872
Trachomatous Trichiasis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8552676
Trichiasis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
G RT1-CE13 RT1 class I, locus CE13 RGD:7364877
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7364877
X-linked exudative vitreoretinopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:8694209
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    sensory system disease 4697
      eye and adnexa disease 2257
        eye disease 2257
          eyelid disease 64
            Barber-Say syndrome 1
            Cryptophthalmos, Unilateral or Bilateral, Isolated 2
            Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
            Eccrine Syringofibroadenomatosis with Eyelid Abnormalities 0
            Epiblepharon of Upper Lid 0
            Trichiasis + 4
            blepharitis + 2
            blepharochalasis 0
            blepharophimosis + 15
            blepharospasm + 2
            ectropion + 2
            entropion + 0
            eversion of lacrimal punctum 0
            eyelid benign neoplasm + 2
            eyelid carcinoma 0
            eyelid degenerative disease + 0
            filarial elephantiasis 0
            hordeolum + 0
            hyperpigmentation of eyelid 0
            lacrimal passage granuloma 0
            lagophthalmos + 0
            ptosis + 15
            stenosis of lacrimal passage 0
            stenosis of lacrimal punctum 0
            vitreous disease + 20
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          eye and adnexa disease 2257
            eye adnexa disease 118
              eyelid disease 64
                Barber-Say syndrome 1
                Cryptophthalmos, Unilateral or Bilateral, Isolated 2
                Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
                Eccrine Syringofibroadenomatosis with Eyelid Abnormalities 0
                Epiblepharon of Upper Lid 0
                Trichiasis + 4
                blepharitis + 2
                blepharochalasis 0
                blepharophimosis + 15
                blepharospasm + 2
                ectropion + 2
                entropion + 0
                eversion of lacrimal punctum 0
                eyelid benign neoplasm + 2
                eyelid carcinoma 0
                eyelid degenerative disease + 0
                filarial elephantiasis 0
                hordeolum + 0
                hyperpigmentation of eyelid 0
                lacrimal passage granuloma 0
                lagophthalmos + 0
                ptosis + 15
                stenosis of lacrimal passage 0
                stenosis of lacrimal punctum 0
                vitreous disease + 20
paths to the root

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