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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:isolated microphthalmia
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Accession:DOID:0080637 term browser browse the term
Definition:A microphthalmia that occurs by itself. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
isolated microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by OMIM:610093
ClinVar Annotator: match by term: Microphthalmia, isolated 2
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:3378363, PMID:11341888, PMID:15257456, PMID:17661825, PMID:21976963, PMID:25741868, PMID:28492532 NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
JBrowse link
isolated microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Microphthalmia, isolated 3
ClinVar Annotator: match by OMIM:611038
OMIM
ClinVar
PMID:14662654, PMID:18783408, PMID:19158959, PMID:20494911, PMID:25741868, PMID:28492532 NCBI chr18:61,638,352...61,642,056
Ensembl chr18:61,638,352...61,642,056
JBrowse link
isolated microphthalmia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 4
ClinVar Annotator: match by OMIM:613094
OMIM
ClinVar
PMID:18425797, PMID:19129173, PMID:23307924, PMID:24033266, PMID:25741868, PMID:32737436 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar PMID:1258954, PMID:12140190, PMID:15976030, PMID:17167404, PMID:18554571, PMID:18648522, PMID:19169412, PMID:19753314, PMID:20361016, PMID:21670352, PMID:22142163, PMID:22605927, PMID:22892318, PMID:23112574, PMID:23143909, PMID:23742260, PMID:24088041, PMID:24531000, PMID:25097241, PMID:25412400, PMID:25741868, PMID:26583794, PMID:26633545, PMID:28492532, PMID:29170418, PMID:29450879, PMID:30181649 NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by OMIM:611040
OMIM
ClinVar
PMID:1258954, PMID:12140190, PMID:15976030, PMID:17167404, PMID:18554571, PMID:18648522, PMID:19169412, PMID:19753314, PMID:20361016, PMID:21670352, PMID:22142163, PMID:22605927, PMID:22892318, PMID:23112574, PMID:23143909, PMID:23742260, PMID:24088041, PMID:24531000, PMID:25097241, PMID:25412400, PMID:25741868, PMID:26583794, PMID:26633545, PMID:28492532, PMID:29170418, PMID:29450879, PMID:30181649, PMID:19753314 RGD:11553925 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
isolated microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar PMID:19169412, PMID:25741868, PMID:28492532 NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar PMID:19169412, PMID:25741868, PMID:28492532 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 6
ClinVar Annotator: match by OMIM:613517
OMIM
ClinVar
PMID:15823920, PMID:19526372, PMID:21397065, PMID:21532570, PMID:21670352, PMID:21850159, PMID:22908982, PMID:23127749, PMID:24033266, PMID:24227917, PMID:28492532 NCBI chr 9:94,278,981...94,284,111
Ensembl chr 9:94,279,155...94,283,919
JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
JBrowse link
isolated microphthalmia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by OMIM:613704 OMIM
ClinVar
PMID:19864492 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
JBrowse link
isolated microphthalmia 8 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: Microphthalmia, isolated 8
ClinVar Annotator: match by OMIM:615113
OMIM
ClinVar
PMID:23312594, PMID:25741868, PMID:26995144, PMID:28492532 NCBI chr 1:127,302,920...127,337,828
Ensembl chr 1:127,301,128...127,337,882
JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by OMIM:212550
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15266624, PMID:23167593, PMID:24702266, PMID:25741868, PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 3 ClinVar PMID:25741868 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar
PMID:9888420, PMID:23189188, PMID:25910211 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by OMIM:610092
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3
ClinVar
OMIM
PMID:15257456, PMID:21976963, PMID:25606400, PMID:25741868, PMID:28492532 NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
JBrowse link
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9302262, PMID:10556296, PMID:12503095, PMID:18414213, PMID:20425842, PMID:25741868, PMID:30311386 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6
ClinVar Annotator: match by OMIM:613703
OMIM
ClinVar
PMID:19864492, PMID:24281366, PMID:25741868 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar
PMID:19864492, PMID:23307924 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7
ClinVar Annotator: match by OMIM:614497
OMIM
ClinVar
PMID:19504436, PMID:22226084, PMID:24281366 NCBI chr 9:82,373,950...82,382,228
Ensembl chr 9:82,373,946...82,382,272
JBrowse link
Isolated Microphthalmia with Coloboma 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tenm3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by OMIM:615145
ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9
ClinVar
OMIM
PMID:22766609, PMID:25741868, PMID:27103084, PMID:29753094, PMID:30513139 NCBI chr16:46,422,676...46,929,023
Ensembl chr16:46,731,403...46,926,245
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        microphthalmia 98
          isolated microphthalmia 14
            Isolated Microphthalmia with Cataract 1 0
            Isolated Microphthalmia with Cataract 2 1
            Isolated Microphthalmia with Cataract 3 1
            Isolated Microphthalmia with Cataract 4 0
            Isolated Microphthalmia with Coloboma + 7
            Isolated Microphthalmia with Corectopia 0
            isolated microphthalmia 1 0
            isolated microphthalmia 2 1
            isolated microphthalmia 3 1
            isolated microphthalmia 4 1
            isolated microphthalmia 5 2
            isolated microphthalmia 6 4
            isolated microphthalmia 7 1
            isolated microphthalmia 8 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            Eye Abnormalities 365
              microphthalmia 98
                isolated microphthalmia 14
                  Isolated Microphthalmia with Cataract 1 0
                  Isolated Microphthalmia with Cataract 2 1
                  Isolated Microphthalmia with Cataract 3 1
                  Isolated Microphthalmia with Cataract 4 0
                  Isolated Microphthalmia with Coloboma + 7
                  Isolated Microphthalmia with Corectopia 0
                  isolated microphthalmia 1 0
                  isolated microphthalmia 2 1
                  isolated microphthalmia 3 1
                  isolated microphthalmia 4 1
                  isolated microphthalmia 5 2
                  isolated microphthalmia 6 4
                  isolated microphthalmia 7 1
                  isolated microphthalmia 8 1
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.