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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;   agenesis of macula;   coloboma of eye;   coloboma of iris, choroid, and retina;   colobomas;   congenital ocular coloboma;   ocular coloboma;   uveoretinal coloboma
 narrow_synonym: OCULAR COLOBOMA, AUTOSOMAL RECESSIVE
 primary_id: MESH:D003103
 alt_id: OMIM:120200;   OMIM:120300;   OMIM:216820
 xref: GARD:1433;   ICD10CM:Q13.0;   NCI:C98877;   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 Cdon cell adhesion associated, oncogene regulated JBrowse link 8 36,625,757 36,712,091 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 Fzd5 frizzled class receptor 5 JBrowse link 9 71,443,784 71,445,541 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 Slbp stem-loop binding protein JBrowse link 14 82,356,916 82,366,368 RGD:11554173
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 Wdr37 WD repeat domain 37 JBrowse link 17 57,983,937 58,051,011 RGD:8554872
G Yap1 Yes1 associated transcriptional regulator 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
RGD:8554872
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 Dhx37 DEAH-box helicase 37 JBrowse link 12 36,594,058 36,614,165 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
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
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
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
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
syndromic microphthalmia 14 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
Temtamy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsm4 acyl-CoA synthetase medium-chain family member 4 JBrowse link 1 189,432,604 189,458,799 RGD:8554872
G Aicda activation-induced cytidine deaminase JBrowse link 4 155,359,909 155,371,104 RGD:8554872
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 JBrowse link 4 155,386,367 155,414,034 RGD:8554872
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:8554872
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
G C1rl complement C1r subcomponent like JBrowse link 4 157,108,190 157,122,689 RGD:8554872
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
G C3ar1 complement C3a receptor 1 JBrowse link 4 155,681,767 155,691,240 RGD:8554872
G Cd163 CD163 molecule JBrowse link 4 156,752,063 156,785,467 RGD:8554872
G Cdca3 cell division cycle associated 3 JBrowse link 4 157,347,876 157,351,889 RGD:8554872
G Clec4a1 C-type lectin domain family 4, member A1 JBrowse link 4 155,947,794 155,959,909 RGD:8554872
G Clec4a3 C-type lectin domain family 4, member A3 JBrowse link 4 155,913,366 155,923,079 RGD:8554872
G Clec4b2 C-type lectin domain family 4, member B2 JBrowse link 4 156,107,720 156,131,226 RGD:8554872
G Clec4d C-type lectin domain family 4, member D JBrowse link 4 156,253,084 156,264,766 RGD:8554872
G Clec4e C-type lectin domain family 4, member E JBrowse link 4 156,271,087 156,276,243 RGD:8554872
G Clstn3 calsyntenin 3 JBrowse link 4 157,044,736 157,078,013 RGD:8554872
G Dppa3 developmental pluripotency-associated 3 JBrowse link 4 155,437,675 155,441,059 RGD:8554872
G Emg1 EMG1 N1-specific pseudouridine methyltransferase JBrowse link 4 157,222,366 157,230,647 RGD:8554872
G Eno2 enolase 2 JBrowse link 4 157,285,192 157,294,090 RGD:8554872
G Fam90a1 family with sequence similarity 90, member A1 JBrowse link 16 75,001,033 75,016,173 RGD:8554872
G Foxj2 forkhead box J2 JBrowse link 4 155,653,446 155,679,815 RGD:8554872
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:8554872
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:8554872
G Grcc10 gene rich cluster, C10 gene JBrowse link 4 157,264,383 157,266,042 RGD:7240710
RGD:8554872
G Lpcat3 lysophosphatidylcholine acyltransferase 3 JBrowse link 4 157,181,722 157,222,997 RGD:8554872
G Lrrc23 leucine rich repeat containing 23 JBrowse link 4 157,294,386 157,304,590 RGD:8554872
G Mfap5 microfibril associated protein 5 JBrowse link 4 155,313,671 155,336,228 RGD:8554872
G Mir141 microRNA 141 JBrowse link 4 157,236,346 157,236,439 RGD:8554872
G Mir200c microRNA 200c JBrowse link 4 157,236,786 157,236,854 RGD:8554872
G Nanog Nanog homeobox JBrowse link 4 155,531,906 155,539,268 RGD:8554872
G Necap1 NECAP endocytosis associated 1 JBrowse link 4 155,709,712 155,724,801 RGD:8554872
G P3h3 prolyl 3-hydroxylase 3 JBrowse link 4 157,359,331 157,375,186 RGD:8554872
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
G Phb2 prohibitin 2 JBrowse link 4 157,230,769 157,235,375 RGD:8554872
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 JBrowse link 4 157,239,141 157,263,890 RGD:8554872
G Rimklb ribosomal modification protein rimK-like family member B JBrowse link 4 155,258,241 155,292,809 RGD:8554872
G Slc2a3 solute carrier family 2 member 3 JBrowse link 4 155,549,991 155,626,018 RGD:8554872
G Tpi1 triosephosphate isomerase 1 JBrowse link 4 157,328,375 157,331,905 RGD:8554872
G Usp5 ubiquitin specific peptidase 5 JBrowse link 4 157,332,735 157,347,803 RGD:8554872
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 Yes1 associated transcriptional regulator 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 16021
    sensory system disease 4979
      eye disease 2391
        Eye Abnormalities 332
          coloboma 81
            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-Obesity-Hypogenitalism-Mental Retardation Syndrome 0
            Hereditary Macular Coloboma 1
            Hittner Hirsch Kreh Syndrome 1
            Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
            Isolated Microphthalmia with Coloboma + 7
            Kahrizi syndrome 1
            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 39
            Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
            Yim Ebbin Syndrome 0
            Zunich Neuroectodermal Syndrome 1
            coloboma of optic nerve 3
            corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
            renal coloboma syndrome 1
            syndromic microphthalmia 14 2
            uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          eye disease 2391
            Eye Abnormalities 332
              coloboma 81
                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-Obesity-Hypogenitalism-Mental Retardation Syndrome 0
                Hereditary Macular Coloboma 1
                Hittner Hirsch Kreh Syndrome 1
                Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
                Isolated Microphthalmia with Coloboma + 7
                Kahrizi syndrome 1
                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 39
                Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
                Yim Ebbin Syndrome 0
                Zunich Neuroectodermal Syndrome 1
                coloboma of optic nerve 3
                corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
                renal coloboma syndrome 1
                syndromic microphthalmia 14 2
                uveal coloboma-cleft lip and palate-intellectual disability 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.