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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:optic nerve coloboma
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Accession:MP:0010717 term browser browse the term
Definition:congenital defect of the optic nerve in which some part of the structure is absent
Synonyms:exact_synonym: coloboma of the optic nerve


show annotations for term's descendants           Sort by:
optic nerve coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax2 paired box 2 IAGP MGI PMID:8951055 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Rara retinoic acid receptor, alpha IAGP MGI PMID:7607067 NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768 		JBrowse link
G Rarb retinoic acid receptor, beta IAGP MGI PMID:7607067 NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G Rarg retinoic acid receptor, gamma IAGP MGI PMID:7607067 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Rpl24 ribosomal protein L24 IAGP MGI PMID:9331275 PMID:10681427 NCBI chr16:55,786,638...55,791,800
Ensembl chr16:55,786,638...55,791,798 		JBrowse link
G Rybp RING1 and YY1 binding protein IAGP MGI PMID:17470285 NCBI chr 6:100,205,526...100,264,319
Ensembl chr 6:100,205,526...100,264,446 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16965
    vision/eye phenotype 3150
      abnormal eye morphology 2990
        abnormal posterior eye segment morphology 1652
          abnormal optic nerve morphology 213
            optic nerve coloboma 6
Path 2
Term Annotations click to browse term
  mammalian phenotype 16965
    nervous system phenotype 4637
      abnormal nervous system morphology 3669
        abnormal somatic nervous system morphology 1289
          abnormal cranial nerve morphology 383
            abnormal optic nerve morphology 213
              optic nerve coloboma 6
paths to the root