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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 the SOX2 gene 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


show annotations for term's descendants           Sort by:
syndromic microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC108734.3 novel transcript IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,707,589...180,870,178
Ensembl chr 3:180,707,589...180,871,005 		JBrowse link
G ACTL6A actin like 6A IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC39-AS1 CCDC39 antisense RNA 1 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,680,081...180,700,452
Ensembl chr 3:180,680,084...180,700,449 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,912,670...180,982,753
Ensembl chr 3:180,868,141...180,982,753 		JBrowse link
G LINC01206 long intergenic non-protein coding RNA 1206 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,952,364...182,010,678
Ensembl chr 3:181,952,343...182,035,644 		JBrowse link
G LINC02053 long intergenic non-protein coding RNA 2053 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,414,173...180,422,501
Ensembl chr 3:180,413,008...180,476,778 		JBrowse link
G LOC102724604 uncharacterized LOC102724604 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,421,163...181,442,486 JBrowse link
G LOC108281177 SOX2 5' regulatory region IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome		 ClinVar PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 3:181,707,848...181,712,914 JBrowse link
G LOC108281178 SRR2 enhancer downstream of SOX2 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 PMID:17522144 PMID:23701296 PMID:24804704 PMID:28492532 NCBI chr 3:181,715,429...181,716,409 JBrowse link
G LOC110120606 VISTA enhancer hs192 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,055,851...181,058,014 JBrowse link
G LOC110120632 VISTA enhancer hs258 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,718,639...180,720,170 JBrowse link
G LOC110120734 VISTA enhancer hs655 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,744,037...180,745,086 JBrowse link
G LOC114004376 Sharpr-MPRA regulatory region 15084 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,316,501...181,316,795 JBrowse link
G LOC123256953 Sharpr-MPRA regulatory region 7561 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,558,801...179,559,095 JBrowse link
G LOC123256954 Sharpr-MPRA regulatory region 7910 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,912,301...180,912,595 JBrowse link
G LOC123256955 Sharpr-MPRA regulatory region 859 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 PMID:17522144 PMID:23701296 PMID:24804704 PMID:28492532 NCBI chr 3:181,860,181...181,860,475 JBrowse link
G LOC126806881 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:181010183-181011382 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,292,395...181,293,594 JBrowse link
G LOC126806882 BRD4-independent group 4 enhancer GRCh37_chr3:181077271-181078470 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,359,483...181,360,682 JBrowse link
G LOC126806883 MED14-independent group 3 enhancer GRCh37_chr3:181252985-181254184 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:181,535,197...181,536,396 JBrowse link
G LOC129937982 ATAC-STARR-seq lymphoblastoid silent region 14920 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937983 ATAC-STARR-seq lymphoblastoid silent region 14921 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937984 ATAC-STARR-seq lymphoblastoid silent region 14922 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937985 ATAC-STARR-seq lymphoblastoid active region 20871 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937986 ATAC-STARR-seq lymphoblastoid active region 20872 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937987 ATAC-STARR-seq lymphoblastoid active region 20873 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937988 ATAC-STARR-seq lymphoblastoid silent region 14924 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937989 ATAC-STARR-seq lymphoblastoid silent region 14925 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937990 ATAC-STARR-seq lymphoblastoid active region 20874 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937991 ATAC-STARR-seq lymphoblastoid active region 20875 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937992 ATAC-STARR-seq lymphoblastoid silent region 14926 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937993 ATAC-STARR-seq lymphoblastoid active region 20876 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937994 ATAC-STARR-seq lymphoblastoid active region 20877 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937995 ATAC-STARR-seq lymphoblastoid silent region 14927 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937996 ATAC-STARR-seq lymphoblastoid active region 20879 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G LOC129937997 ATAC-STARR-seq lymphoblastoid silent region 14928 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359
G MRPL47 mitochondrial ribosomal protein L47 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,588,285...179,604,646
Ensembl chr 3:179,588,285...179,604,649 		JBrowse link
G NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,604,794...179,627,647
Ensembl chr 3:179,604,690...179,627,647 		JBrowse link
G PEX5L peroxisomal biogenesis factor 5 like IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,794,958...180,036,937
Ensembl chr 3:179,794,958...180,037,053 		JBrowse link
G PEX5L-AS2 PEX5L antisense RNA 2 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,898,194...179,921,899
Ensembl chr 3:179,898,199...179,921,895 		JBrowse link
G SIX6 SIX homeobox 6 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP
EXP		 ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX2-OT SOX2 overlapping transcript IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome		 ClinVar PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 3:181,056,680...181,742,228
Ensembl chr 3:180,989,762...181,836,880 		JBrowse link
G TTC14 tetratricopeptide repeat domain 14 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,602,163...180,618,329
Ensembl chr 3:180,602,163...180,617,828 		JBrowse link
G TTC14-DT TTC14 divergent transcript IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:180,480,865...180,602,113 JBrowse link
G USP13 ubiquitin specific peptidase 13 IAGP ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 3:179,653,040...179,789,401
Ensembl chr 3:179,653,032...179,804,366 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      nervous system disease 26372
        Nervous System Malformations 3160
          syndromic microphthalmia 3 48
Path 2
Term Annotations click to browse term
  disease 35753
    Pathological Conditions, Signs and Symptoms 21489
      Signs and Symptoms 16342
        Neurologic Manifestations 15410
          sensory system disease 9759
            eye disease 4962
              Eye Abnormalities 1017
                microphthalmia 264
                  syndromic microphthalmia 123
                    syndromic microphthalmia 3 48
paths to the root