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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 Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:30311386 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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 Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:30311386 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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:27408750, PMID:27508083, PMID:27535533, PMID:28384041, PMID:28492532, PMID:28620713, PMID:29556725, PMID:30311386 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 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 Sp3 Sp3 transcription factor ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:30311386 NCBI chr 3:59,644,579...59,689,011
Ensembl chr 3:59,646,015...59,688,692
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Agenesis of macula
ClinVar PMID:10508989, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:30311386 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: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:10411937, PMID:12325076, PMID:16685646, PMID:22366783, PMID:22495914, PMID:23649928, PMID:23756437, PMID:25052316, PMID:25156961, PMID:25741868, PMID:27240540, PMID:27868373, 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: 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:22495914, PMID:23649928, PMID:23756437, PMID:24033266, PMID:25052316, PMID:25156961, PMID:25741868, PMID:26467025, PMID:27240540, PMID:27868373, 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 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: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5
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, PMID:30311386 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 OMIM:216360
OMIM
ClinVar
PMID:18414213, PMID:18950740, PMID:19574260, PMID:19777577, PMID:22241855, PMID:22246503, PMID:25741868, PMID:26092869, PMID:27081510, PMID:27082236, PMID:28492532 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: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by OMIM:216360
OMIM
ClinVar
PMID:17558407, PMID:17558409, PMID:19430481, PMID:19574260, 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 term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
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 Annotator: match by null
OMIM
ClinVar
PMID:2929661, PMID:8862632, PMID:10508989, PMID:12368986, PMID:17160906, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21633164, PMID:21866095, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28492532, PMID:28497568, PMID:28973083, PMID:30311386, 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
coloboma of optic nerve 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: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:27848944, PMID:28492532, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
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 Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:15221449, PMID:16470552, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
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
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr  X:71,412,291...71,486,456
Ensembl chr  X:71,412,289...71,485,085
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Optic nerve coloboma ClinVar PMID:30311386 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Optic nerve coloboma ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:30311386 NCBI chr 3:80,549,102...80,555,186 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 OMIM:300472 OMIM
ClinVar
PMID:14556245 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
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Macular coloboma ClinVar PMID:10508989, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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:16400610, PMID:16763960, PMID:17661815, PMID:18073582, PMID:18414213, PMID:18445044, PMID:18834967, PMID:21158681, PMID:21995344, PMID:22033296, PMID:22461308, PMID:22539353, PMID:23024289, PMID:23378218, PMID:23533228, PMID:24033266, PMID:24368733, PMID:24862881, PMID:25077900, PMID:25107291, PMID:25741868, PMID:25931334, PMID:25996639, PMID:26467025, PMID:28475860, PMID:28492532, PMID:28832562, PMID:29255181, PMID:29304373, PMID:30311386, 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:9888420, PMID:23189188, 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:15257456, 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, PMID:30311386 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 PMID:11341888, PMID:17661825 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:9760197, PMID:10533062, PMID:11093271, PMID:11241473, PMID:11461952, PMID:15652857, PMID:22213154, PMID:24429398, PMID:24676634, PMID:25741868, PMID:27226968, PMID:27657687, PMID:28041643, PMID:28492532, PMID:30311386 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: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 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
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:21937992, PMID:23453665, PMID:23453666, PMID:23633300, PMID:24798461, PMID:25326635, PMID:25558065, PMID:25741868, PMID:28097321, PMID:28454995, PMID:28492532, PMID:28600779, PMID:29383837 NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...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
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
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
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
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 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 16023
    sensory system disease 5231
      eye disease 2664
        Eye Abnormalities 367
          coloboma 95
            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 2
            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 39
            Yim Ebbin Syndrome 0
            coloboma of optic nerve 14
            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 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            Eye Abnormalities 367
              coloboma 95
                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 2
                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 39
                Yim Ebbin Syndrome 0
                coloboma of optic nerve 14
                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.