ONTOLOGY REPORT - ANNOTATIONS


Term:coloboma
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Accession:DOID:12270 term browser browse the term
Definition:Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
Synonyms:exact_synonym: COI;   COLOBOMA, OCULAR, AUTOSOMAL DOMINANT;   Colobomas;   Ocular Coloboma;   agenesis of macula;   coloboma of eye;   coloboma of iris, choroid, and retina;   coloboma of macula;   congenital ocular coloboma;   uveoretinal coloboma
 narrow_synonym: OCULAR COLOBOMA, AUTOSOMAL RECESSIVE
 primary_id: MESH:D003103
 alt_id: OMIM:120200;   OMIM:120300;   OMIM:216820;   RDO:0000552
 xref: GARD:1433;   ORDO:194;   ORDO:98945
For additional species annotation, visit the Alliance of Genome Resources.


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coloboma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:11554173
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:11554173
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 JBrowse link 18 51,619,007 51,651,267 RGD:11554173
G Bfsp1 beaded filament structural protein 1 JBrowse link 3 137,935,345 137,992,652 RGD:8554872
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 JBrowse link 5 86,387,238 86,554,108 RGD:8554872
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:11554173
G Mab21l2 mab-21 like 2 JBrowse link 2 185,849,749 185,852,833 RGD:11553846
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:8554872
G Sall2 spalt-like transcription factor 2 JBrowse link 15 28,728,471 28,746,042 RGD:8554872
RGD:7240710
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:8554872
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
COACH Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535946
RGD:11535944
coloboma of optic nerve term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 RGD:7240710
RGD:8554872
Hereditary Macular Coloboma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 RGD:11554173
Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
RGD:7240710
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:7240710
RGD:8554872
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tenm3 teneurin transmembrane protein 3 JBrowse link 16 46,422,676 46,929,023 RGD:8554872
RGD:7240710
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:7240710
RGD:8554872
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:7240710
RGD:8554872
RGD:11070482
RGD:11554173
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:12880033
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrba LPS responsive beige-like anchor protein JBrowse link 2 185,590,983 186,110,491 RGD:8554872
G Mab21l2 mab-21 like 2 JBrowse link 2 185,849,749 185,852,833 RGD:8554872
RGD:7240710
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zdbf2 zinc finger, DBF-type containing 2 JBrowse link 9 70,052,088 70,090,847 RGD:8554872
renal coloboma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax2 paired box 2 JBrowse link 1 264,493,579 264,585,073 RGD:7240710
RGD:8554872
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir204 microRNA 204 JBrowse link 1 240,403,000 240,403,109 RGD:7240710
RGD:8554872
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 JBrowse link 1 239,741,572 240,757,583 RGD:8554872
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:7240710
RGD:8554872
Temtamy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grcc10 gene rich cluster, C10 gene JBrowse link 4 157,264,383 157,266,042 RGD:7240710
RGD:8554872
Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:7240710
RGD:8554872
Zunich Neuroectodermal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L JBrowse link 10 48,774,018 48,831,848 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      eye and adnexa disease 1985
        eye disease 1985
          Eye Abnormalities 283
            coloboma 37
              Alsing Syndrome 0
              Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 0
              Arima Syndrome 0
              Baraitser Rodeck Garner syndrome 0
              Baraitser-Winter syndrome + 2
              Biemond Syndrome II 0
              Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 0
              CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
              COACH Syndrome 3
              COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
              Calloso-Genital Dysplasia 0
              Coloboma of Alar-Nasal Cartilages with Telecanthus 0
              Coloboma of Macula Type B Brachydactyly 0
              Coloboma of Macula and Skeletal Anomalies 0
              Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 0
              Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 0
              Hereditary Macular Coloboma 1
              Hittner Hirsch Kreh Syndrome 0
              Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
              Isolated Microphthalmia with Coloboma + 7
              Kahrizi syndrome 1
              MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 2
              Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
              Marles Greenberg Persaud Syndrome 1
              Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
              Microphthalmia Associated with Colobomatous Cyst 0
              Microphthalmia and Mental Deficiency 0
              Microphthalmia, Cataracts, and Iris Abnormalities 2
              Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 0
              Nasopalpebral Lipoma Coloboma Syndrome 1
              Otodental Dysplasia 0
              Pfeiffer Mayer Syndrome 0
              RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 2
              Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
              Temtamy Syndrome 1
              Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
              Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation 1
              Yim Ebbin Syndrome 0
              Zunich Neuroectodermal Syndrome 1
              coloboma of optic nerve 1
              corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
              renal coloboma syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              Eye Abnormalities 283
                coloboma 37
                  Alsing Syndrome 0
                  Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 0
                  Arima Syndrome 0
                  Baraitser Rodeck Garner syndrome 0
                  Baraitser-Winter syndrome + 2
                  Biemond Syndrome II 0
                  Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 0
                  CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED 1
                  COACH Syndrome 3
                  COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                  Calloso-Genital Dysplasia 0
                  Coloboma of Alar-Nasal Cartilages with Telecanthus 0
                  Coloboma of Macula Type B Brachydactyly 0
                  Coloboma of Macula and Skeletal Anomalies 0
                  Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 0
                  Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 0
                  Hereditary Macular Coloboma 1
                  Hittner Hirsch Kreh Syndrome 0
                  Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
                  Isolated Microphthalmia with Coloboma + 7
                  Kahrizi syndrome 1
                  MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 2
                  Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
                  Marles Greenberg Persaud Syndrome 1
                  Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
                  Microphthalmia Associated with Colobomatous Cyst 0
                  Microphthalmia and Mental Deficiency 0
                  Microphthalmia, Cataracts, and Iris Abnormalities 2
                  Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 0
                  Nasopalpebral Lipoma Coloboma Syndrome 1
                  Otodental Dysplasia 0
                  Pfeiffer Mayer Syndrome 0
                  RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 2
                  Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
                  Temtamy Syndrome 1
                  Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
                  Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation 1
                  Yim Ebbin Syndrome 0
                  Zunich Neuroectodermal Syndrome 1
                  coloboma of optic nerve 1
                  corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
                  renal coloboma syndrome 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.