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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:iris coloboma
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Accession:MP:0010714 term browser browse the term
Definition:congenital defect of the iris in which some part of the structure is absent
Synonyms:exact_synonym: coloboma iridis;   coloboma of the iris
 narrow_synonym: iridodiastasis
 xref: HP:0000612


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iris coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP MGI PMID:12149478 NCBI chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 IAGP MGI PMID:19509472 NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G Glce glucuronyl C5-epimerase IAGP MGI PMID:12788935 NCBI chr 9:61,964,526...62,029,891
Ensembl chr 9:61,964,530...62,029,937 		JBrowse link
G H2az2 H2A.Z histone variant 2 IAGP MGI PMID:19509472 NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443 		JBrowse link
G Hs2st1 heparan sulfate 2-O-sulfotransferase 1 IAGP MGI PMID:9637690 NCBI chr 3:144,135,462...144,275,977
Ensembl chr 3:144,135,467...144,275,942 		JBrowse link
G Jag1 jagged 1 IAGP MGI PMID:10196361 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Kif20b kinesin family member 20B IAGP MGI PMID:21214893 NCBI chr19:34,899,735...34,953,150
Ensembl chr19:34,899,761...34,953,145 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 IEA MGI NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Myo10 myosin X IEA MGI NCBI chr15:25,622,636...25,813,759
Ensembl chr15:25,622,611...25,813,759 		JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IAGP MGI PMID:16020517 NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722 		JBrowse link
G Rarb retinoic acid receptor, beta IAGP MGI PMID:9240560 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:9240560 NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952 		JBrowse link
G Slc13a4 solute carrier family 13 (sodium/sulfate symporters), member 4 IAGP MGI PMID:26292834 NCBI chr 6:35,244,888...35,285,061
Ensembl chr 6:35,244,892...35,285,066 		JBrowse link
G Smoc1 SPARC related modular calcium binding 1 IAGP MGI PMID:21750680 NCBI chr12:81,073,582...81,233,188
Ensembl chr12:81,073,582...81,233,188 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17088
    vision/eye phenotype 3189
      abnormal eye morphology 3030
        abnormal uvea morphology 275
          uveal coloboma 16
            iris coloboma 14
Path 2
Term Annotations click to browse term
  mammalian phenotype 17088
    vision/eye phenotype 3189
      abnormal eye morphology 3030
        abnormal anterior eye segment morphology 1184
          abnormal anterior uvea morphology 226
            abnormal iris morphology 214
              iris coloboma 14
paths to the root