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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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        Nervous System Malformations 1082
          syndromic microphthalmia 3 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            Eye Abnormalities 363
              microphthalmia 98
                syndromic microphthalmia 20
                  syndromic microphthalmia 3 2
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.