Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Anophthalmia
go back to main search page
Accession:DOID:9002049 term browser browse the term
Definition:Congenital absence of the eye or eyes.
Synonyms:exact_synonym: anophthalmias;   anophthalmos
 primary_id: MESH:D000853
 alt_id: RDO:0002743
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Anophthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:11554173
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:1599088
RGD:11554173
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
Matthew-Wood syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 JBrowse link 1 127,302,920 127,337,828 RGD:8554872
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link 8 62,925,364 62,944,438 RGD:7240710
RGD:8554872
RGD:11554173
G Wnt7b Wnt family member 7B JBrowse link 7 126,423,418 126,465,724 RGD:8554872
Microphthalmia, Syndromic 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 ADAM metallopeptidase domain 17 JBrowse link 6 43,400,525 43,448,280 RGD:8554872
G Arr3 arrestin 3 JBrowse link X 70,438,590 70,452,140 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:1600504
RGD:8554872
RGD:11554173
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
G Cep83 centrosomal protein 83 JBrowse link 7 35,739,553 35,847,618 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:8554872
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:8554872
G Dicer1 dicer 1 ribonuclease III JBrowse link 6 128,388,084 128,453,234 RGD:8554872
G Efhd1 EF-hand domain family, member D1 JBrowse link 9 94,362,249 94,408,884 RGD:8554872
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Grasp general receptor for phosphoinositides 1 associated scaffold protein JBrowse link 7 142,869,785 142,877,551 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Krtcap3 keratinocyte associated protein 3 JBrowse link 6 26,485,126 26,486,695 RGD:8554872
G Map3k1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 2 43,329,516 43,393,203 RGD:8554872
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
G Myo1c myosin 1C JBrowse link 10 63,803,311 63,819,614 RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:7240710
RGD:8554872
G Ndst2 N-deacetylase and N-sulfotransferase 2 JBrowse link 15 3,995,797 4,006,491 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:8554872
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 JBrowse link 13 53,750,470 53,870,288 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Pfkp phosphofructokinase, platelet JBrowse link 17 68,510,765 68,574,387 RGD:8554872
G Plxnc1 plexin C1 JBrowse link 7 35,848,083 36,000,969 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Sfrp2 secreted frizzled-related protein 2 JBrowse link 2 182,723,732 182,731,277 RGD:8554872
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
G Sox14 SRY-box transcription factor 14 JBrowse link 8 108,107,865 108,109,801 RGD:8554872
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link 8 62,925,364 62,944,438 RGD:8554872
G Sulf1 sulfatase 1 JBrowse link 5 5,999,520 6,186,901 RGD:8554872
G Tshz2 teashirt zinc finger homeobox 2 JBrowse link 3 166,469,752 166,748,558 RGD:8554872
G Vax2 ventral anterior homeobox 2 JBrowse link 4 115,388,839 115,412,515 RGD:8554872
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    sensory system disease 4697
      eye and adnexa disease 2259
        eye disease 2259
          Eye Abnormalities 280
            Anophthalmia 47
              Anophthalmia Plus Syndrome 0
              Arroyo Garcia Cimadevilla Syndrome 0
              Cerebrooculonasal Syndrome 0
              Leichtman Wood Rohn Syndrome 0
              Matthew-Wood syndrome 3
              Microphthalmia, Syndromic 1 41
              Samson Viljoen Syndrome 0
              Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              Eye Abnormalities 280
                Anophthalmia 47
                  Anophthalmia Plus Syndrome 0
                  Arroyo Garcia Cimadevilla Syndrome 0
                  Cerebrooculonasal Syndrome 0
                  Leichtman Wood Rohn Syndrome 0
                  Matthew-Wood syndrome 3
                  Microphthalmia, Syndromic 1 41
                  Samson Viljoen Syndrome 0
                  Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 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.