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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:microphthalmia
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Accession:DOID:10629 term browser browse the term
Definition:An eye disease where one or both eyeballs are abnormally small. (DO)
Synonyms:exact_synonym: microphthalmos;   simple microphthalmos
 related_synonym: anophthalmia/microphthalmia
 primary_id: MESH:D008850
 xref: GARD:12085;   ICD10CM:Q11.2;   ICD9CM:743.1;   NCI:C98989;   OMIM:PS251600
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISS OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr  X:26,314,561...26,845,242
Ensembl chr  X:26,315,878...26,376,467
JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr  X:70,438,590...70,452,140
Ensembl chr  X:70,438,617...70,452,067
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:21106365, PMID:24326041, PMID:24755471, PMID:25231023, PMID:25741868, PMID:25980754, PMID:26182300, PMID:26467025, PMID:26893459, PMID:27582386, PMID:27621404, PMID:28492532, PMID:29577179, PMID:30311375 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 7:35,739,553...35,847,618
Ensembl chr 7:35,773,928...35,847,617
JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr11:83,858,503...83,867,543
Ensembl chr11:83,858,503...83,867,203
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 1:256,369,410...256,380,649
Ensembl chr 1:256,370,850...256,378,335
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459, PMID:28492532 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25167861, PMID:25326635, PMID:25641759, PMID:25741868, PMID:25920557, PMID:25944381, PMID:28492532, PMID:32581362 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 9:94,362,249...94,408,884
Ensembl chr 9:94,362,299...94,408,885
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Fancd2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26467025, PMID:26893459 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:24700879, PMID:25353622, PMID:26893459 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
JBrowse link
G Gja8 gap junction protein, alpha 8 IAGP DNA:missense mutation:cds:p.L7Q(rat) RGD PMID:18470322 RGD:2293186 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:18470322 RGD:2293186
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:2706105, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9482292, PMID:9600457, PMID:9620796, PMID:9819448, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10982180, PMID:10982182, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11483639, PMID:11493200, PMID:11668644, PMID:11918723, PMID:12072059, PMID:12081719, PMID:12172392, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12684873, PMID:12786762, PMID:14070830, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15482471, PMID:15666300, PMID:15954104, PMID:15967879, PMID:16088916, PMID:16300957, PMID:16336662, PMID:16380907, PMID:16773579, PMID:16868655, PMID:17041943, PMID:17428550, PMID:17553572, PMID:17661817, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18804553, PMID:18925674, PMID:18985073, PMID:19173109, PMID:19371219, PMID:19375528, PMID:19925344, PMID:19941053, PMID:20073550, PMID:20236118, PMID:20301449, PMID:20739944, PMID:20815033, PMID:21056478, PMID:21094084, PMID:21465647, PMID:21468573, PMID:21910243, PMID:22037723, PMID:22281373, PMID:22567152, PMID:22855627, PMID:22975760, PMID:22981120, PMID:23489192, PMID:23757202, PMID:24033266, PMID:24158611, PMID:24346070, PMID:24793888, PMID:25214170, PMID:25637381, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26467025, PMID:26896187, PMID:26940866, PMID:26969326, PMID:28492532, PMID:29362677, PMID:29501291, PMID:30311386, PMID:30872814, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459, PMID:28492532 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Hccs holocytochrome c synthase ISO
ISS
microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C
OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972
MouseDO PMID:17033964 RGD:1600417 NCBI chr  X:26,294,028...26,303,461
Ensembl chr  X:26,294,066...26,303,461
JBrowse link
G Hmx1 H6 family homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chr14:80,540,558...80,544,607
Ensembl chr14:80,541,075...80,544,342
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 6:26,485,126...26,486,695
Ensembl chr 6:26,485,126...26,486,695
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO DNA:mutation:splice junction: RGD PMID:28111184 RGD:12793059 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 2:43,329,516...43,393,203
Ensembl chr 2:43,329,516...43,393,207
JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) RGD PMID:23742260 RGD:11553922 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
G Mid1 midline 1 ISS OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272
JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Myo1c myosin 1C ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr10:63,803,311...63,819,614
Ensembl chr10:63,803,309...63,819,614
JBrowse link
G Ndst2 N-deacetylase and N-sulfotransferase 2 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr15:3,995,797...4,006,491
Ensembl chr15:3,996,048...4,006,491
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia/Microphthalmia
ClinVar Annotator: match by term: Anophthalmia - microphthalmia
ClinVar PMID:26893459, PMID:28492532 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459, PMID:28492532 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr13:53,750,470...53,870,288
Ensembl chr13:53,750,473...53,870,428
JBrowse link
G Pax6 paired box 6 ISO human gene in a mouse model
ClinVar Annotator: match by term: Anophthalmia - microphthalmia
ClinVar PMID:26893459, PMID:18507827 RGD:8552240 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pfkp phosphofructokinase, platelet ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr17:68,510,765...68,574,387
Ensembl chr17:68,511,064...68,559,471
JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:nonsense mutation:cl444C>A(mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:16565358, PMID:25347445 RGD:11535071 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
JBrowse link
G Plxnc1 plexin C1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 7:35,848,083...36,000,969
Ensembl chr 7:35,850,398...36,000,906
JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr 9:94,278,981...94,284,111
Ensembl chr 9:94,279,155...94,283,919
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:16231297, PMID:23334667, PMID:24728327, PMID:25567908, PMID:26802149, PMID:26893459, PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ralbp1 ralA binding protein 1 ISS OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr 9:113,579,107...113,598,477
Ensembl chr 9:113,579,107...113,598,480
JBrowse link
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Anophthalmia/Microphthalmia ClinVar NCBI chr18:61,638,352...61,642,056
Ensembl chr18:61,638,352...61,642,056
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459, PMID:28492532 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 1:198,383,201...198,403,544
Ensembl chr 1:198,383,201...198,403,544
JBrowse link
G Sfrp2 secreted frizzled-related protein 2 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 2:182,723,732...182,731,277
Ensembl chr 2:182,723,854...182,731,764
JBrowse link
G Sox14 SRY-box transcription factor 14 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 8:108,107,865...108,109,801
Ensembl chr 8:108,107,865...108,109,801
JBrowse link
G Stau2 staufen double-stranded RNA binding protein 2 IMP RGD PMID:22940085 RGD:10043154 NCBI chr 5:2,257,910...2,497,429 JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia - microphthalmia
CTD
ClinVar
PMID:18316031, PMID:26893459 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437
JBrowse link
G Sulf1 sulfatase 1 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 5:5,999,520...6,186,901
Ensembl chr 5:5,999,475...6,186,329
JBrowse link
G Tamalin trafficking regulator and scaffold protein tamalin ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 7:142,869,785...142,877,551
Ensembl chr 7:142,869,752...142,878,347
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25741868 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: Microphthalmos 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 Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 3:166,469,752...166,748,558
Ensembl chr 3:166,743,544...166,746,597
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Microphthalmos ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
G Vax2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 4:115,388,839...115,412,515
Ensembl chr 4:115,388,839...115,412,515
JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia
ClinVar Annotator: match by term: Microphthalmia
ClinVar Annotator: match by term: Anophthalmia/Microphthalmia
ClinVar PMID:15257456, PMID:24033328, PMID:25741868, PMID:26893459 NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:26893459 NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
JBrowse link
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arhinia choanal atresia microphthalmia
CTD
OMIM
ClinVar
PMID:672092, PMID:5032329, PMID:6802865, PMID:8446727, PMID:8723126, PMID:11321738, PMID:16353241, PMID:23143600, PMID:23432817, PMID:23852095, PMID:26440771, PMID:26842768, PMID:28067909, PMID:28067911 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
cataract 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: CATARACT 40 WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by OMIM:302200
OMIM
ClinVar
PMID:19414485, PMID:25741868 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by OMIM:300863 OMIM
ClinVar
PMID:16001442, PMID:20181727 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
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
Frontonasal Dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 3
ClinVar Annotator: match by OMIM:613456
OMIM
ClinVar
PMID:20451171, PMID:24467814, PMID:27324866, PMID:28492532 NCBI chr 7:44,751,865...44,771,458
Ensembl chr 7:44,751,873...44,771,458
JBrowse link
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Heart and brain malformation syndrome ClinVar
OMIM
PMID:27018474 NCBI chr 1:81,259,450...81,282,893
Ensembl chr 1:81,260,548...81,282,887
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 2 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:610093
ClinVar Annotator: match by term: Microphthalmia, isolated 2
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:3378363, PMID:11341888, PMID:15257456, PMID:17661825, PMID:21976963, 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 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Microphthalmia, isolated 3
ClinVar Annotator: match by OMIM:611038
OMIM
ClinVar
PMID:14662654, PMID:18783408, PMID:19158959, PMID:20494911, PMID:25741868, PMID:28492532 NCBI chr18:61,638,352...61,642,056
Ensembl chr18:61,638,352...61,642,056
JBrowse link
isolated microphthalmia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 4
ClinVar Annotator: match by OMIM:613094
OMIM
ClinVar
PMID:18425797, PMID:19129173, PMID:23307924, PMID:24033266, PMID:25741868, PMID:32737436 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar PMID:1258954, PMID:12140190, PMID:15976030, PMID:17167404, PMID:18554571, PMID:18648522, PMID:19169412, PMID:19753314, PMID:20361016, PMID:21670352, PMID:22142163, PMID:22605927, PMID:22892318, PMID:23112574, PMID:23143909, PMID:23742260, PMID:24088041, PMID:24531000, PMID:25097241, PMID:25412400, PMID:25741868, PMID:26583794, PMID:26633545, PMID:28492532, PMID:29170418, PMID:29450879, PMID:30181649 NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by OMIM:611040
OMIM
ClinVar
PMID:1258954, PMID:12140190, PMID:15976030, PMID:17167404, PMID:18554571, PMID:18648522, PMID:19169412, PMID:19753314, PMID:20361016, PMID:21670352, PMID:22142163, PMID:22605927, PMID:22892318, PMID:23112574, PMID:23143909, PMID:23742260, PMID:24088041, PMID:24531000, PMID:25097241, PMID:25412400, PMID:25741868, PMID:26583794, PMID:26633545, PMID:28492532, PMID:29170418, PMID:29450879, PMID:30181649, PMID:19753314 RGD:11553925 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
isolated microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar PMID:19169412, PMID:25741868, PMID:28492532 NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar PMID:19169412, PMID:25741868, PMID:28492532 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 6
ClinVar Annotator: match by OMIM:613517
OMIM
ClinVar
PMID:15823920, PMID:19526372, PMID:21397065, PMID:21532570, PMID:21670352, PMID:21850159, PMID:22908982, PMID:23127749, PMID:24033266, PMID:24227917, PMID:28492532, PMID:32996714 NCBI chr 9:94,278,981...94,284,111
Ensembl chr 9:94,279,155...94,283,919
JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
JBrowse link
isolated microphthalmia 7 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 OMIM:613704 OMIM
ClinVar
PMID:19864492 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
JBrowse link
isolated microphthalmia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 8
ClinVar Annotator: match by OMIM:615113
OMIM
ClinVar
PMID:23312594, PMID:25741868, PMID:26995144, PMID:28492532 NCBI chr 1:127,302,920...127,337,828
Ensembl chr 1:127,301,128...127,337,882
JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by OMIM:212550
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15266624, PMID:23167593, PMID:24702266, PMID:25741868, PMID:26416026, PMID:28492532, PMID:28617965, PMID:29597095 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 3 ClinVar PMID:25741868 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
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
linear skin defects with multiple congenital anomalies 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
JBrowse link
G Hccs holocytochrome c synthase ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
ClinVar Annotator: match by OMIM:309801
OMIM
ClinVar
PMID:16059943, PMID:17033964, PMID:25741868 NCBI chr  X:26,294,028...26,303,461
Ensembl chr  X:26,294,066...26,303,461
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
CTD
ClinVar
PMID:25741868, PMID:25772934 NCBI chr  X:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524
JBrowse link
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus
ClinVar Annotator: match by OMIM:615458
OMIM
ClinVar
PMID:22686506, PMID:23818446 NCBI chr19:46,005,055...46,167,912
Ensembl chr19:46,005,277...46,101,250
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
nanophthalmos term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25412400, PMID:26583794, PMID:28492532, PMID:29170418, PMID:30181649 NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
JBrowse link
G Mfrp membrane frizzled-related protein ISS
ISO
OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972
ClinVar Annotator: match by term: Nanophthalmos
MouseDO
ClinVar
PMID:25412400, PMID:26583794, PMID:28492532, PMID:29170418, PMID:30181649 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:19526372, PMID:21397065, PMID:21532570, PMID:21670352, PMID:22908982, PMID:23127749, PMID:24033266, PMID:24227917 NCBI chr 9:94,278,981...94,284,111
Ensembl chr 9:94,279,155...94,283,919
JBrowse link
G Tmem98 transmembrane protein 98 ISS OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972 MouseDO NCBI chr10:68,173,380...68,184,289
Ensembl chr10:68,173,369...68,184,320
JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480
JBrowse link
Nanophthalmos 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Nanophthalmos 2
ClinVar PMID:1258954, PMID:15976030, PMID:17167404, PMID:18554571, PMID:19753314, PMID:20361016, PMID:22605927, PMID:23112574, PMID:23143909, PMID:28492532, PMID:32996714 NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Nanophthalmos 2
ClinVar Annotator: match by OMIM:609549
OMIM
ClinVar
PMID:1258954, PMID:15976030, PMID:17167404, PMID:18554571, PMID:19753314, PMID:20361016, PMID:22605927, PMID:23112574, PMID:23143909, PMID:28492532, PMID:32996714 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
Nanophthalmos 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem98 transmembrane protein 98 ISO ClinVar Annotator: match by term: Nanophthalmos 4 OMIM
ClinVar
PMID:24852644, PMID:26392740 NCBI chr10:68,173,380...68,184,289
Ensembl chr10:68,173,369...68,184,320
JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar
OMIM
PMID:2309863, PMID:11470490, PMID:12457340, PMID:14974090, PMID:14981729, PMID:15192806, PMID:15879313, PMID:16531323, PMID:16816024, PMID:17901047, PMID:18003637, PMID:18946008, PMID:19057520, PMID:19338053, PMID:21215473, PMID:21670345, PMID:22090377, PMID:22179534, PMID:23103513, PMID:23304551, PMID:23465283, PMID:23606748, PMID:25388818, PMID:25398053, PMID:25741868, PMID:27226478, PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY OMIM
ClinVar
PMID:15266624, PMID:23167593, PMID:24702266, PMID:25741868, PMID:26416026, PMID:28492532, PMID:28617965, PMID:29597095 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
syndromic microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:28492532 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO DNA:missense mutation:exon:254C>T (p.P85L) (human)
ClinVar Annotator: match by term: Lenz microphthalmia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:28492532, PMID:15004558 RGD:1600504 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Lenz microphthalmia syndrome
ClinVar Annotator: match by OMIM:309800
OMIM
ClinVar
PMID:1679229, PMID:11426460, PMID:16114045, PMID:24431331, PMID:25741868, PMID:30842225 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950
JBrowse link
syndromic microphthalmia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11
ClinVar Annotator: match by OMIM:614402
OMIM
ClinVar
PMID:22095910, PMID:28492532 NCBI chr 1:280,334,897...280,338,813
Ensembl chr 1:280,334,897...280,338,813
JBrowse link
syndromic microphthalmia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 12
ClinVar Annotator: match by OMIM:615524
OMIM
ClinVar
PMID:17506106, PMID:22318625, PMID:24075189, PMID:25457163, PMID:25741868, PMID:27120018, PMID:28492532 NCBI chr15:9,915,223...10,262,599
Ensembl chr15:10,120,206...10,262,599
JBrowse link
syndromic microphthalmia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgb3 high mobility group box 3 ISO OMIM NCBI chr17:36,690,190...36,694,329
Ensembl chr17:36,690,249...36,694,325
Ensembl chr14:36,690,249...36,694,325
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
syndromic microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300166
OMIM
ClinVar
CTD
PMID:10069716, PMID:12116202, PMID:14608648, PMID:15004558, PMID:15770227, PMID:16829040, PMID:17517692, PMID:18414213, PMID:19367324, PMID:19578371, PMID:21740180, PMID:22005280, PMID:22486321, PMID:22983184, PMID:23557072, PMID:23815237, PMID:24728327, PMID:25326637, PMID:25337074, PMID:25620158, PMID:25741868, PMID:26196063, PMID:26539891, PMID:26694549, PMID:28317252, PMID:28492532, PMID:29058245 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome
ClinVar Annotator: match by term: Microphthalmia syndromic 3
ClinVar Annotator: match by OMIM:206900
OMIM
ClinVar
PMID:12002146, PMID:12612584, PMID:15346919, PMID:15389708, PMID:15812812, PMID:16145681, PMID:16283891, PMID:16470798, PMID:16543359, PMID:16892407, PMID:16932809, PMID:17219395, PMID:17522144, PMID:18285410, PMID:18385377, PMID:18831064, PMID:19254784, PMID:19921648, PMID:20803647, PMID:21326281, PMID:22171155, PMID:23701296, PMID:24804704, PMID:25542770, PMID:25741868, PMID:26250054, PMID:27206652, PMID:28492532 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
syndromic microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by OMIM:610125
ClinVar Annotator: match by term: Syndromic microphthalmia type 5
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome
ClinVar Annotator: match by term: Microphthalmia syndromic 5
ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia
ClinVar
OMIM
PMID:15846561, PMID:16607563, PMID:17541950, PMID:18628516, PMID:18781617, PMID:19956411, PMID:19965921, PMID:20396904, PMID:22577225, PMID:22715480, PMID:24033328, PMID:24167467, PMID:25293953, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:9727514, PMID:12868034, PMID:15086958, PMID:16407227, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647, PMID:25741868, PMID:26416026, PMID:28492532, PMID:28617965, PMID:29597095 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chr 7:126,423,418...126,465,724
Ensembl chr 7:126,420,656...126,465,723
JBrowse link
syndromic microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies
ClinVar Annotator: match by term: Microphthalmia syndromic 6
ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia
ClinVar Annotator: match by OMIM:607932
OMIM
ClinVar
PMID:12404109, PMID:17003840, PMID:18252212, PMID:18305125, PMID:18771417, PMID:19249007, PMID:19557432, PMID:19685083, PMID:20949628, PMID:21340693, PMID:22052794, PMID:22978696, PMID:23227324, PMID:24429398, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx3 sorting nexin 3 ISO OMIM NCBI chr20:47,225,382...47,263,390
Ensembl chr20:47,225,619...47,263,390
JBrowse link
syndromic microphthalmia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868, PMID:28590501 NCBI chr 1:127,302,920...127,337,828
Ensembl chr 1:127,301,128...127,337,882
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Microphthalmia syndromic 9
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect
ClinVar
OMIM
CTD
PMID:11857549, PMID:17273977, PMID:17503335, PMID:18316031, PMID:19213032, PMID:19309693, PMID:19839040, PMID:22686418, PMID:25741868, PMID:26373900, PMID:28492532 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437
JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Microphthalmia syndromic 9 ClinVar PMID:25741868 NCBI chr 7:126,423,418...126,465,724
Ensembl chr 7:126,420,656...126,465,723
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
        microphthalmia 98
          Adams Nance Syndrome 0
          Arhinia, Choanal Atresia, and Microphthalmia 1
          Aughton Syndrome 0
          Behrens Baumann Dust Syndrome 0
          COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
          Duker Weiss Siber syndrome 0
          Frontonasal Dysplasia 3 1
          GOMBO Syndrome 0
          Ghose Sachdev Kumar Syndrome 0
          HEART AND BRAIN MALFORMATION SYNDROME 1
          Hittner Hirsch Kreh Syndrome 1
          Holoprosencephaly 10 0
          Kaplowitz Bodurtha syndrome 0
          Macrosomia with Lethal Microphthalmia 0
          Microcephaly Microphthalmos Blindness 0
          Microcornea Corectopia Macular Hypoplasia 0
          Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
          Microgastria Limb Reduction Defect 0
          Microphthalmia Associated with Colobomatous Cyst 0
          Microphthalmia and Mental Deficiency 0
          Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 0
          Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 0
          Microphthalmia, Cataracts, and Iris Abnormalities 2
          Oculodentodigital Dysplasia, Autosomal Recessive 1
          Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 0
          Thomas Jewett Raines Syndrome 0
          cataract 40 1
          chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
          isolated microphthalmia + 14
          nanophthalmos + 5
          optic disc anomalies with retinal and/or macular dystrophy 1
          syndromic microphthalmia + 20
          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
              microphthalmia 98
                Adams Nance Syndrome 0
                Arhinia, Choanal Atresia, and Microphthalmia 1
                Aughton Syndrome 0
                Behrens Baumann Dust Syndrome 0
                COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                Duker Weiss Siber syndrome 0
                Frontonasal Dysplasia 3 1
                GOMBO Syndrome 0
                Ghose Sachdev Kumar Syndrome 0
                HEART AND BRAIN MALFORMATION SYNDROME 1
                Hittner Hirsch Kreh Syndrome 1
                Holoprosencephaly 10 0
                Kaplowitz Bodurtha syndrome 0
                Macrosomia with Lethal Microphthalmia 0
                Microcephaly Microphthalmos Blindness 0
                Microcornea Corectopia Macular Hypoplasia 0
                Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
                Microgastria Limb Reduction Defect 0
                Microphthalmia Associated with Colobomatous Cyst 0
                Microphthalmia and Mental Deficiency 0
                Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 0
                Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 0
                Microphthalmia, Cataracts, and Iris Abnormalities 2
                Oculodentodigital Dysplasia, Autosomal Recessive 1
                Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 0
                Thomas Jewett Raines Syndrome 0
                cataract 40 1
                chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
                isolated microphthalmia + 14
                nanophthalmos + 5
                optic disc anomalies with retinal and/or macular dystrophy 1
                syndromic microphthalmia + 20
                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.