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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:Anophthalmia
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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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Anophthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar PMID:29178648 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Rax retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:15789424 NCBI chr18:59,463,737...59,467,431
Ensembl chr18:59,463,737...59,467,431
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO DNA:nonsense mutations: :multiple
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21532573 PMID:12612584 RGD:1599088 NCBI chr 2:117,536,929...117,539,338
Ensembl chr 2:117,536,929...117,539,338
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO DNA:missense mutation:exon:254C>T (p.P85L) (human)
ClinVar Annotator: match by term: Microphthalmia, syndromic 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:25741868 PMID:28492532 PMID:15004558 RGD:1600504 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 1 OMIM
ClinVar
PMID:1679229 PMID:11426460 PMID:16114045 PMID:24431331 PMID:25741868 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
syndromic microphthalmia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28590501 NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9
CTD
ClinVar
OMIM
PMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 PMID:18316031 More... NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Matthew-Wood syndrome ClinVar PMID:25741868 NCBI chr 7:116,634,817...116,679,089
Ensembl chr 7:116,634,814...116,679,581
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    sensory system disease 6393
      eye disease 2932
        Eye Abnormalities 461
          Anophthalmia 10
            Anophthalmia Plus Syndrome 0
            Arroyo Garcia Cimadevilla Syndrome 0
            Cerebrooculonasal Syndrome 0
            Leichtman Wood Rohn Syndrome 0
            Samson Viljoen Syndrome 0
            Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
            syndromic microphthalmia 1 2
            syndromic microphthalmia 9 3
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        sensory system disease 6393
          eye disease 2932
            Eye Abnormalities 461
              Anophthalmia 10
                Anophthalmia Plus Syndrome 0
                Arroyo Garcia Cimadevilla Syndrome 0
                Cerebrooculonasal Syndrome 0
                Leichtman Wood Rohn Syndrome 0
                Samson Viljoen Syndrome 0
                Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
                syndromic microphthalmia 1 2
                syndromic microphthalmia 9 3
paths to the root