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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
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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.

show annotations for term's descendants           Sort by:
 
coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841 		JBrowse link
G Actg1 actin, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25004007 NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267 		JBrowse link
G Bfsp1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 PMID:28492532 NCBI chr 3:137,935,345...137,992,652
Ensembl chr 3:137,935,345...137,969,658 		JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr10:15,319,772...15,346,607
Ensembl chr10:15,319,774...15,346,374 		JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Coloboma ClinVar NCBI chr 5:86,387,238...86,554,108
Ensembl chr 5:86,387,078...86,554,102 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar Annotator: match by term: Coloboma of eye		 ClinVar PMID:9097971 PMID:10655546 PMID:11558822 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18470941 PMID:18622259 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:21854771 PMID:22004014 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25950505 PMID:25978063 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:26660953 NCBI chr 1:220,840,078...220,844,412
Ensembl chr 1:220,840,118...220,844,405 		JBrowse link
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 PMID:26908622 NCBI chr 9:71,443,784...71,445,541
Ensembl chr 9:71,443,588...71,445,739 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18809619 NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079 		JBrowse link
G Mab21l2 mab-21 like 2 ISO DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human) RGD PMID:25719200 RGD:11553846 NCBI chr 2:185,849,749...185,852,833
Ensembl chr 2:185,850,232...185,852,759 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by synonym: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT OMIM
ClinVar		 PMID:12721955 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:29178648 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711 		JBrowse link
G Sall2 spalt-like transcription factor 2 ISO ClinVar Annotator: match by term: Ocular coloboma, autosomal recessive ClinVar
OMIM		 PMID:24412933 PMID:25741868 NCBI chr15:28,728,471...28,746,042
Ensembl chr15:28,728,140...28,746,042 		JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr14:82,356,916...82,366,368
Ensembl chr14:82,356,916...82,366,368 		JBrowse link
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar Annotator: match by term: Coloboma of eye		 ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072 		JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by synonym: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:24462371 NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISS
ISO		 OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome		 MouseDO
ClinVar		 PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841 		JBrowse link
G Actg1 actin, gamma 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954 		JBrowse link
Baraitser-Winter Syndrome 1 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: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by OMIM:243310		 OMIM
ClinVar		 PMID:1415343 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:18414213 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25741868 PMID:25979418 PMID:26467025 PMID:28492532 PMID:29220674 PMID:29261186 PMID:32860008 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841 		JBrowse link
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by OMIM:614583		 OMIM
ClinVar		 PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:29671837 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954 		JBrowse link
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked ClinVar PMID:23176820 PMID:25326635 PMID:25741868 PMID:25744623 PMID:26609730 PMID:27030146 PMID:28492532 PMID:29389947 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: CHIME syndrome
ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
ClinVar Annotator: match by OMIM:280000		 OMIM
ClinVar		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 NCBI chr10:48,774,018...48,831,848
Ensembl chr10:48,773,828...48,831,855 		JBrowse link
COACH syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect		 ClinVar PMID:18414213 PMID:18950740 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25525159 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28492532 PMID:29165578 PMID:29620724 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis		 ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:23188109 PMID:25741868 PMID:26092869 PMID:28492532 PMID:29991045 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
ClinVar Annotator: match by term: COACH syndrome
DNA:missense mutations: :multiple
ClinVar Annotator: match by OMIM:216360		 ClinVar
CTD		 PMID:2929661 PMID:8862632 PMID:12368986 PMID:17160906 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 PMID:28497568 PMID:28973083, PMID:19574260, PMID:19058225 RGD:11535946, RGD:11535944 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072 		JBrowse link
COACH Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:18950740 PMID:22241855 PMID:25525159 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28492532 PMID:29165578 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: COACH SYNDROME 1 OMIM
ClinVar		 PMID:17397051 PMID:18414213 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072 		JBrowse link
COACH Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH SYNDROME 2 OMIM
ClinVar		 PMID:18950740 PMID:19574260 PMID:19777577 PMID:22246503 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419 		JBrowse link
COACH Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH SYNDROME 3 OMIM
ClinVar		 PMID:19574260 PMID:26092869 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055 		JBrowse link
coloboma of optic nerve term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:31256877 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 Pax6 paired box 6 ISO ClinVar Annotator: match by term: Coloboma of optic disc
ClinVar Annotator: match by OMIM:120430		 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
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:27889061 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532 		JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
ClinVar Annotator: match by OMIM:300472		 OMIM
ClinVar		 PMID:14556245 PMID:25741868 NCBI chr  X:70,322,764...70,345,005
Ensembl chr  X:70,322,755...70,345,005 		JBrowse link
Hereditary Macular Coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842230 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254 		JBrowse link
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:16763960 PMID:17661815 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 PMID:21158681 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:24033266 PMID:24862881 PMID:25077900 PMID:25107291 PMID:25741868 PMID:25931334 PMID:25996639 PMID:26467025 PMID:28166811 PMID:28475860 PMID:28492532 PMID:29255181 PMID:29304373 PMID:31042289 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696 		JBrowse link
Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar		 PMID:25741868 PMID:25910211 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711 		JBrowse link
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by OMIM:610092
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3		 ClinVar
OMIM		 PMID:11341888 PMID:15257456 PMID:17661825 PMID:21976963 PMID:25606400 PMID:25741868 PMID:28492532 NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587 		JBrowse link
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:9302262 PMID:10556296 PMID:12503095 PMID:18414213 PMID:20425842 PMID:25741868 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691 		JBrowse link
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6
ClinVar Annotator: match by OMIM:613703		 OMIM
ClinVar		 PMID:19864492 PMID:24281366 PMID:25741868 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar		 PMID:19864492 PMID:23307924 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599 		JBrowse link
Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7
ClinVar Annotator: match by OMIM:614497		 OMIM
ClinVar		 PMID:19504436 PMID:22226084 PMID:24281366 NCBI chr 9:82,373,950...82,382,228
Ensembl chr 9:82,373,946...82,382,272 		JBrowse link
Isolated Microphthalmia with Coloboma 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tenm3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by OMIM:615145
ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9		 ClinVar
OMIM		 PMID:22766609 PMID:25741868 PMID:27103084 PMID:29753094 PMID:30513139 NCBI chr16:46,422,676...46,929,023
Ensembl chr16:46,731,403...46,926,245 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by OMIM:612713 OMIM
ClinVar		 PMID:18781183 PMID:20700148 NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356 		JBrowse link
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Manitoba Trichoanal syndrome
ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome
ClinVar Annotator: match by OMIM:248450
DNA:mutation:splice junction:
DNA:deletion,frameshift,missense mutations:exons,cds:
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11332973 PMID:17352387 PMID:21507892 PMID:21931569 PMID:23112756 PMID:23221805 PMID:23333812 PMID:23806086 PMID:24088041 PMID:24115501 PMID:25736269 PMID:25741868 PMID:26893459 PMID:28492532, PMID:21507892, PMID:21507892 RGD:11070482, RGD:11070482 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651 		JBrowse link
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO RGD PMID:20735985 RGD:12880033 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities		 ClinVar PMID:11341888 PMID:17661825 PMID:25741868 NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587 		JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr 9:70,052,088...70,090,847
Ensembl chr 9:70,059,683...70,089,778 		JBrowse link
renal coloboma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal coloboma syndrome
ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities
ClinVar Annotator: match by OMIM:120330		 OMIM
ClinVar		 PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 PMID:9106533 PMID:9536098 PMID:9760197 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:15652857 PMID:17576681 PMID:22213154 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:27657687 PMID:28041643 PMID:28166811 PMID:28492532 PMID:30773290 NCBI chr 1:264,493,579...264,585,073
Ensembl chr 1:264,504,591...264,583,329 		JBrowse link
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir204 microRNA 204 ISO ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract OMIM
ClinVar		 PMID:26056285 NCBI chr 1:240,403,000...240,403,109
Ensembl chr 1:240,403,000...240,403,109 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ClinVar PMID:26056285 NCBI chr 1:239,741,572...240,757,583
Ensembl chr 1:240,355,149...240,757,583 		JBrowse link
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
ClinVar Annotator: match by OMIM:615147		 OMIM
ClinVar		 PMID:9888420 PMID:10232633 PMID:16157297 PMID:23189188 PMID:25741868 PMID:25910211 PMID:28492532 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711 		JBrowse link
syndromic microphthalmia 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 14
ClinVar Annotator: match by term: Microphthalmia/coloboma and skeletal dysplasia syndrome		 ClinVar PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495 		JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by OMIM:615877
ClinVar Annotator: match by term: Microphthalmia/coloboma and skeletal dysplasia syndrome		 ClinVar
OMIM		 PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 NCBI chr 2:185,849,749...185,852,833
Ensembl chr 2:185,850,232...185,852,759 		JBrowse link
Temtamy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 1:189,432,604...189,458,799
Ensembl chr 1:189,432,604...189,457,048 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604 		JBrowse link
G Clec4a C-type lectin domain family 4, member A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,049,800...156,069,260
Ensembl chr 4:156,050,054...156,069,313 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,947,794...155,959,909
Ensembl chr 4:155,947,453...155,959,993 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,913,366...155,923,079
Ensembl chr 4:155,913,366...155,923,079 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,107,720...156,131,226
Ensembl chr 4:156,107,620...156,131,583 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,253,084...156,264,766
Ensembl chr 4:156,253,079...156,264,769 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,271,087...156,276,243
Ensembl chr 4:156,270,920...156,276,304 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,437,675...155,441,059
Ensembl chr 3:111,298,713...111,299,189
Ensembl chr 4:111,298,713...111,299,189 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
Ensembl chr 9:157,285,179...157,294,047 		JBrowse link
G Fam90a1 family with sequence similarity 90, member A1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr16:75,001,033...75,016,173 JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,653,446...155,679,815
Ensembl chr 4:155,653,718...155,679,793 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Temtamy syndrome
ClinVar Annotator: match by OMIM:218340		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:23453665 PMID:23453666 PMID:23633300 PMID:24798461 PMID:25326635 PMID:25558065 PMID:25741868 PMID:28097321 PMID:28454995 PMID:28492532 PMID:28600779 PMID:29269699 PMID:29383837 NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018
Ensembl chr 9:157,264,383...157,266,018 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653
Ensembl chr 9:157,294,287...157,304,653 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,313,671...155,336,228
Ensembl chr 4:155,313,671...155,336,228 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,236,786...157,236,854 JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
Ensembl chr 4:156,983,915...157,009,674 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890 		JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,258,241...155,292,809
Ensembl chr 4:155,260,103...155,275,161 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
Ensembl chr 4:155,408,233...155,631,856 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,325,980...157,328,380
Ensembl chr 4:157,326,727...157,328,379
Ensembl chr 9:157,326,727...157,328,379 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803 		JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
ClinVar Annotator: match by OMIM:120433		 OMIM
ClinVar		 PMID:4997531 PMID:24462371 PMID:25741868 NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        Eye Abnormalities 358
          coloboma 85
            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
            CHIME syndrome 1
            COACH syndrome + 4
            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
            Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
            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 41
            Yim Ebbin Syndrome 0
            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 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            Eye Abnormalities 358
              coloboma 85
                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
                CHIME syndrome 1
                COACH syndrome + 4
                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
                Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
                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 41
                Yim Ebbin Syndrome 0
                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