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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:coloboma of optic nerve
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Accession:DOID:11975 term browser browse the term
Synonyms:exact_synonym: COLOBOMA OF OPTIC DISC;   Congenital coloboma of the optic nerve;   Morning glory syndrome;   Optic nerve coloboma
 narrow_synonym: MORNING GLORY DISC ANOMALY;   OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL
 primary_id: MESH:C535970;   RDO:0001360
 alt_id: OMIM:120430
 xref: GARD:13354;   GARD:8502;   ICD10CM:Q14.2;   ICD9CM:377.23
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
coloboma of optic nerve term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:27848944, PMID:28492532, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:25741868 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:15221449, PMID:16470552, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by OMIM:120430
ClinVar Annotator: match by term: Coloboma of optic disc
OMIM
ClinVar
PMID:12721955, PMID:25741868 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr  X:71,412,291...71,486,456
Ensembl chr  X:71,412,289...71,485,085
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Optic nerve coloboma ClinVar PMID:30311386 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Optic nerve coloboma ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr 3:80,549,102...80,555,186 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        visual pathway disease 834
          coloboma of optic nerve 14
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
              coloboma 94
                coloboma of optic nerve 14
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.