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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:syndromic microphthalmia 3
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Accession:DOID:0111801 term browser browse the term
Definition:A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in SOX2 on chromosome 3q26.33. (DO)
Synonyms:exact_synonym: AEG syndrome;   Anophthalmia, Clinical, With Associated Anomalies;   Anophthalmia-Esophageal-Genital Syndrome;   MCOPS3;   Microphthalmia And Esophageal Atresia Syndrome;   SOX2-related eye disorders;   Sox2 Anophthalmia Syndrome;   anophthalmia microphthalmia esophageal atresia;   anophthalmia/microphthalmia-esophageal atresia syndrome;   syndromic microphthalmia type 3
 narrow_synonym: OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM
 primary_id: MESH:C565948
 alt_id: OMIM:206900
 xref: GARD:1443;   ORDO:77298
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by OMIM:206900
ClinVar Annotator: match by term: Microphthalmia syndromic 3
ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
OMIM
ClinVar
PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 PMID:16145681 PMID:16283891 PMID:16470798 PMID:16543359 PMID:16892407 PMID:16932809 PMID:17219395 PMID:17522144 PMID:18285410 PMID:18385377 PMID:18831064 PMID:19254784 PMID:19921648 PMID:20803647 PMID:21326281 PMID:22171155 PMID:23701296 PMID:24804704 PMID:25542770 PMID:25741868 PMID:26250054 PMID:27206652 PMID:28492532 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        Nervous System Malformations 1041
          syndromic microphthalmia 3 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            Eye Abnormalities 353
              microphthalmia 95
                syndromic microphthalmia 20
                  syndromic microphthalmia 3 2
paths to the root