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ONTOLOGY REPORT - ANNOTATIONS


Term:microphthalmia
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Accession:DOID:10629 term browser browse the term
Definition:Congenital or developmental anomaly in which the eyeballs are abnormally small.
Synonyms:exact_synonym: microphthalmos;   simple microphthalmos
 related_synonym: anophthalmia/microphthalmia
 primary_id: MESH:D008850
 xref: GARD:12085;   ICD10CM:Q11.2;   ICD9CM:743.1;   ICD9CM:743.10;   ICD9CM:743.11;   NCI:C98989;   OMIM:PS251600
For additional species annotation, visit the Alliance of Genome Resources.


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microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM17 ADAM metallopeptidase domain 17 JBrowse link 3 126,795,513 126,853,995 RGD:9068941
G ARHGAP6 Rho GTPase activating protein 6 JBrowse link X 7,910,851 8,441,579 RGD:9068941
G ARR3 arrestin 3 JBrowse link X 56,295,107 56,310,507 RGD:9068941
G BCOR BCL6 corepressor JBrowse link X 35,768,013 35,891,013 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 1 183,415,989 183,422,888 RGD:9068941
G CDH1 cadherin 1 JBrowse link 6 18,075,487 18,155,986 RGD:9068941
G CEP83 centrosomal protein 83 JBrowse link 5 88,770,706 88,909,874 RGD:9068941
G CHRD chordin JBrowse link 13 122,266,632 122,277,513 RGD:9068941
G DICER1 dicer 1, ribonuclease III JBrowse link 7 116,361,630 116,436,471 RGD:9068941
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 13 201,008,506 201,159,946 RGD:9068941
G EFHD1 EF-hand domain family member D1 JBrowse link 15 133,120,092 133,169,430 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 14 89,998,125 90,075,911 RGD:9068941
G FANCD2 FA complementation group D2 JBrowse link 13 66,241,951 66,308,601 RGD:9068941
G FAT4 FAT atypical cadherin 4 JBrowse link 8 99,141,967 99,312,131 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 8 879,151 894,968 RGD:9068941
G FRAS1 Fraser extracellular matrix complex subunit 1 JBrowse link 8 73,502,368 73,959,454 RGD:9068941
G GJA8 gap junction protein alpha 8 JBrowse link 4 99,721,754 99,724,943 RGD:9068941
G GLI2 GLI family zinc finger 2 JBrowse link 15 30,312,528 30,580,272 RGD:9068941
G HCCS holocytochrome c synthase JBrowse link X 7,882,609 7,894,489 RGD:9068941
G HMX1 H6 family homeobox 1 JBrowse link 8 2,440,727 2,445,549 RGD:9068941
G IFT172 intraflagellar transport 172 JBrowse link 3 111,683,674 111,718,504 RGD:9068941
G KRTCAP3 keratinocyte associated protein 3 JBrowse link 3 111,718,581 111,720,245 RGD:9068941
G LOC100516480 cytochrome c oxidase subunit 7B, mitochondrial JBrowse link X 61,962,383 61,969,011 RGD:9068941
G LOC100739552 cytochrome P450 26C1 JBrowse link 14 104,550,901 104,558,977 RGD:9068941
G LRP5 LDL receptor related protein 5 JBrowse link 2 4,533,721 4,653,997 RGD:9068941
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 16 35,872,301 35,947,097 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:9068941
G MID1 midline 1 JBrowse link X 7,235,386 7,906,049 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 13 51,177,356 51,422,096 RGD:9068941
G MYO1C myosin IC JBrowse link 12 47,691,252 47,715,670 RGD:9068941
G NDST2 N-deacetylase and N-sulfotransferase 2 JBrowse link 14 76,525,998 76,534,695 RGD:9068941
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 41,770,929 41,773,879 RGD:9068941
G NOTCH1 notch receptor 1 RGD:9068941
G NOTCH4 notch receptor 4 JBrowse link 7 24,231,293 24,256,281 RGD:9068941
G NR5A2 nuclear receptor subfamily 5 group A member 2 JBrowse link 10 22,727,865 22,866,905 RGD:9068941
G OTX2 orthodenticle homeobox 2 JBrowse link 1 186,028,575 186,039,026 RGD:9068941
G PAX6 paired box 6 JBrowse link 2 28,971,565 29,001,149 RGD:9068941
G PFKP phosphofructokinase, platelet JBrowse link 10 67,022,652 67,082,336 RGD:9068941
G PITX3 paired like homeodomain 3 JBrowse link 14 113,230,194 113,241,393 RGD:9068941
G PLXNC1 plexin C1 JBrowse link 5 88,900,238 89,055,837 RGD:9068941
G PRSS56 serine protease 56 JBrowse link 15 133,033,848 133,039,583 RGD:9068941
G PTCH1 patched 1 JBrowse link 10 26,627,165 26,703,225 RGD:9068941
G RALBP1 ralA binding protein 1 JBrowse link 6 98,550,925 98,598,945 RGD:9068941
G RAX retina and anterior neural fold homeobox JBrowse link 1 161,679,154 161,683,486 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 7 77,813,964 77,903,973 RGD:9068941
G SALL3 spalt like transcription factor 3 JBrowse link 1 146,251,591 146,273,778 RGD:9068941
G SEZ6L2 seizure related 6 homolog like 2 JBrowse link 3 18,098,109 18,119,522 RGD:9068941
G SFRP2 secreted frizzled related protein 2 JBrowse link 8 75,337,311 75,345,926 RGD:9068941
G SIX6 SIX homeobox 6 JBrowse link 1 189,497,807 189,503,189 RGD:9068941
G SOX14 SRY-box transcription factor 14 JBrowse link 13 78,620,818 78,621,702 RGD:9068941
G SOX2 SRY-box transcription factor 2 JBrowse link 13 119,668,476 119,669,435 RGD:9068941
G STAU2 staufen double-stranded RNA binding protein 2 JBrowse link 4 62,139,456 62,455,509 RGD:9068941
G STRA6 signaling receptor and transporter of retinol STRA6 JBrowse link 7 59,317,930 59,347,274 RGD:9068941
G SULF1 sulfatase 1 JBrowse link 4 65,595,947 65,778,889 RGD:9068941
G TAMALIN trafficking regulator and scaffold protein tamalin JBrowse link 5 17,357,625 17,366,033 RGD:9068941
G TFAP2A transcription factor AP-2 alpha JBrowse link 7 7,221,654 7,244,626 RGD:9068941
G TMEM98 transmembrane protein 98 JBrowse link 12 42,087,691 42,101,152 RGD:9068941
G TSHZ2 teashirt zinc finger homeobox 2 JBrowse link 17 54,111,262 54,374,699 RGD:9068941
G VAX2 ventral anterior homeobox 2 JBrowse link 3 71,593,807 71,622,487 RGD:9068941
G VSX2 visual system homeobox 2 JBrowse link 7 97,532,021 97,551,072 RGD:9068941
G WNT7A Wnt family member 7A JBrowse link 13 70,538,802 70,602,464 RGD:9068941
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 6 103,809,732 103,986,057 RGD:7240710
RGD:9068941
cataract 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHS NHS actin remodeling regulator JBrowse link X 13,854,950 14,209,085 RGD:7240710
RGD:9068941
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HDAC6 histone deacetylase 6 JBrowse link X 42,917,911 42,941,894 RGD:7240710
RGD:9068941
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 13 51,177,356 51,422,096 RGD:7240710
RGD:9068941
Frontonasal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALX1 ALX homeobox 1 JBrowse link 5 96,761,683 96,785,125 RGD:7240710
RGD:9068941
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMG9 SMG9 nonsense mediated mRNA decay factor JBrowse link 6 50,550,743 50,569,753 RGD:7240710
RGD:9068941
isolated microphthalmia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VSX2 visual system homeobox 2 JBrowse link 7 97,532,021 97,551,072 RGD:9068941
isolated microphthalmia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VSX2 visual system homeobox 2 JBrowse link 7 97,532,021 97,551,072 RGD:7240710
RGD:9068941
isolated microphthalmia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAX retina and anterior neural fold homeobox JBrowse link 1 161,679,154 161,683,486 RGD:7240710
RGD:9068941
isolated microphthalmia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF6 growth differentiation factor 6 JBrowse link 4 40,473,015 40,491,142 RGD:7240710
RGD:9068941
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 9 46,548,175 46,550,146 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:7240710
RGD:9068941
isolated microphthalmia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 9 46,548,175 46,550,146 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:9068941
G PRSS56 serine protease 56 JBrowse link 15 133,033,848 133,039,583 RGD:7240710
RGD:9068941
G VSX2 visual system homeobox 2 JBrowse link 7 97,532,021 97,551,072 RGD:9068941
isolated microphthalmia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF3 growth differentiation factor 3 JBrowse link 5 62,835,926 62,841,827 RGD:7240710
RGD:9068941
isolated microphthalmia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 JBrowse link 1 139,451,080 139,491,514 RGD:7240710
RGD:9068941
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 1 189,497,807 189,503,189 RGD:9068941
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHS NHS actin remodeling regulator JBrowse link X 13,854,950 14,209,085 RGD:9068941
Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RBP4 retinol binding protein 4 JBrowse link 14 105,037,360 105,044,552 RGD:7240710
RGD:9068941
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VSX2 visual system homeobox 2 JBrowse link 7 97,532,021 97,551,072 RGD:7240710
RGD:9068941
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SHH sonic hedgehog signaling molecule JBrowse link 18 2,546,202 2,555,484 RGD:7240710
RGD:9068941
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF3 growth differentiation factor 3 JBrowse link 5 62,835,926 62,841,827 RGD:7240710
RGD:9068941
G GDF6 growth differentiation factor 6 JBrowse link 4 40,473,015 40,491,142 RGD:7240710
RGD:9068941
Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) JBrowse link 15 121,246,180 121,254,350 RGD:7240710
RGD:9068941
Isolated Microphthalmia with Coloboma 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TENM3 teneurin transmembrane protein 3 JBrowse link 15 41,818,190 44,401,747 RGD:7240710
RGD:9068941
Matthew-Wood syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 JBrowse link 1 139,451,080 139,491,514 RGD:9068941
G STRA6 signaling receptor and transporter of retinol STRA6 JBrowse link 7 59,317,930 59,347,274 RGD:7240710
RGD:9068941
G WNT7B Wnt family member 7B JBrowse link 5 3,521,412 3,572,322 RGD:9068941
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SNX3 sorting nexin 3 JBrowse link 1 74,306,450 74,349,735 RGD:7240710
RGD:9068941
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 JBrowse link 6 10,488,504 10,652,508 RGD:7240710
RGD:9068941
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMAD4 SMAD family member 4 JBrowse link 1 100,521,843 100,633,501 RGD:9068941
G VSX2 visual system homeobox 2 JBrowse link 7 97,532,021 97,551,072 RGD:9068941
Microphthalmia, Syndromic 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM17 ADAM metallopeptidase domain 17 JBrowse link 3 126,795,513 126,853,995 RGD:9068941
G ARR3 arrestin 3 JBrowse link X 56,295,107 56,310,507 RGD:9068941
G BCOR BCL6 corepressor JBrowse link X 35,768,013 35,891,013 RGD:9068941
G CDH1 cadherin 1 JBrowse link 6 18,075,487 18,155,986 RGD:9068941
G CEP83 centrosomal protein 83 JBrowse link 5 88,770,706 88,909,874 RGD:9068941
G CHRD chordin JBrowse link 13 122,266,632 122,277,513 RGD:9068941
G DICER1 dicer 1, ribonuclease III JBrowse link 7 116,361,630 116,436,471 RGD:9068941
G EFHD1 EF-hand domain family member D1 JBrowse link 15 133,120,092 133,169,430 RGD:9068941
G FAT4 FAT atypical cadherin 4 JBrowse link 8 99,141,967 99,312,131 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 8 879,151 894,968 RGD:9068941
G FRAS1 Fraser extracellular matrix complex subunit 1 JBrowse link 8 73,502,368 73,959,454 RGD:9068941
G GLI2 GLI family zinc finger 2 JBrowse link 15 30,312,528 30,580,272 RGD:9068941
G IFT172 intraflagellar transport 172 JBrowse link 3 111,683,674 111,718,504 RGD:9068941
G KRTCAP3 keratinocyte associated protein 3 JBrowse link 3 111,718,581 111,720,245 RGD:9068941
G LOC100739552 cytochrome P450 26C1 JBrowse link 14 104,550,901 104,558,977 RGD:9068941
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 16 35,872,301 35,947,097 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 13 51,177,356 51,422,096 RGD:9068941
G MYO1C myosin IC JBrowse link 12 47,691,252 47,715,670 RGD:9068941
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link X 124,658,429 124,662,744 RGD:7240710
RGD:9068941
G NDST2 N-deacetylase and N-sulfotransferase 2 JBrowse link 14 76,525,998 76,534,695 RGD:9068941
G NOTCH1 notch receptor 1 RGD:9068941
G NOTCH4 notch receptor 4 JBrowse link 7 24,231,293 24,256,281 RGD:9068941
G NR5A2 nuclear receptor subfamily 5 group A member 2 JBrowse link 10 22,727,865 22,866,905 RGD:9068941
G PAX6 paired box 6 JBrowse link 2 28,971,565 29,001,149 RGD:9068941
G PFKP phosphofructokinase, platelet JBrowse link 10 67,022,652 67,082,336 RGD:9068941
G PLXNC1 plexin C1 JBrowse link 5 88,900,238 89,055,837 RGD:9068941
G PTCH1 patched 1 JBrowse link 10 26,627,165 26,703,225 RGD:9068941
G RAX retina and anterior neural fold homeobox JBrowse link 1 161,679,154 161,683,486 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 7 77,813,964 77,903,973 RGD:9068941
G SALL3 spalt like transcription factor 3 JBrowse link 1 146,251,591 146,273,778 RGD:9068941
G SEZ6L2 seizure related 6 homolog like 2 JBrowse link 3 18,098,109 18,119,522 RGD:9068941
G SFRP2 secreted frizzled related protein 2 JBrowse link 8 75,337,311 75,345,926 RGD:9068941
G SIX6 SIX homeobox 6 JBrowse link 1 189,497,807 189,503,189 RGD:9068941
G SOX14 SRY-box transcription factor 14 JBrowse link 13 78,620,818 78,621,702 RGD:9068941
G STRA6 signaling receptor and transporter of retinol STRA6 JBrowse link 7 59,317,930 59,347,274 RGD:9068941
G SULF1 sulfatase 1 JBrowse link 4 65,595,947 65,778,889 RGD:9068941
G TAMALIN trafficking regulator and scaffold protein tamalin JBrowse link 5 17,357,625 17,366,033 RGD:9068941
G TSHZ2 teashirt zinc finger homeobox 2 JBrowse link 17 54,111,262 54,374,699 RGD:9068941
G VAX2 ventral anterior homeobox 2 JBrowse link 3 71,593,807 71,622,487 RGD:9068941
G VSX2 visual system homeobox 2 JBrowse link 7 97,532,021 97,551,072 RGD:9068941
G WNT7A Wnt family member 7A JBrowse link 13 70,538,802 70,602,464 RGD:9068941
Microphthalmia, Syndromic 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VAX1 ventral anterior homeobox 1 JBrowse link 14 127,269,723 127,277,007 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RARB retinoic acid receptor beta JBrowse link 13 12,336,387 12,507,688 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HMGB3 high mobility group box 3 JBrowse link X 122,591,413 122,599,496 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCOR BCL6 corepressor JBrowse link X 35,768,013 35,891,013 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 1 189,497,807 189,503,189 RGD:9068941
G SOX2 SRY-box transcription factor 2 JBrowse link 13 119,668,476 119,669,435 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link X 124,658,429 124,662,744 RGD:9068941
Microphthalmia, Syndromic 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OTX2 orthodenticle homeobox 2 JBrowse link 1 186,028,575 186,039,026 RGD:7240710
RGD:9068941
G WNT7B Wnt family member 7B JBrowse link 5 3,521,412 3,572,322 RGD:9068941
Microphthalmia, Syndromic 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP4 bone morphogenetic protein 4 JBrowse link 1 183,415,989 183,422,888 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HCCS holocytochrome c synthase JBrowse link X 7,882,609 7,894,489 RGD:7240710
RGD:9068941
G LOC100516480 cytochrome c oxidase subunit 7B, mitochondrial JBrowse link X 61,962,383 61,969,011 RGD:9068941
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 41,770,929 41,773,879 RGD:9068941
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRBA LPS responsive beige-like anchor protein JBrowse link 8 77,970,087 78,680,307 RGD:9068941
G MAB21L2 mab-21 like 2 JBrowse link 8 78,385,176 78,388,008 RGD:7240710
RGD:9068941
nanophthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 9 46,548,175 46,550,146 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:9068941
Nanophthalmos 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYRF myelin regulatory factor JBrowse link 2 9,761,230 9,795,873 RGD:9068941
Nanophthalmos 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 9 46,548,175 46,550,146 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:7240710
RGD:9068941
Nanophthalmos 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM98 transmembrane protein 98 JBrowse link 12 42,087,691 42,101,152 RGD:7240710
RGD:9068941
optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 1 189,497,807 189,503,189 RGD:7240710
RGD:9068941
syndromic microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP4 bone morphogenetic protein 4 JBrowse link 1 183,415,989 183,422,888 RGD:9068941
G OTX2 orthodenticle homeobox 2 JBrowse link 1 186,028,575 186,039,026 RGD:9068941
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G YAP1 Yes1 associated transcriptional regulator JBrowse link 9 32,811,629 32,924,926 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12166
    sensory system disease 4427
      eye disease 2230
        microphthalmia 86
          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
          Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 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 0
          Holoprosencephaly 10 0
          Kaplowitz Bodurtha syndrome 0
          MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 2
          Macrosomia with Lethal Microphthalmia 0
          Matthew-Wood syndrome 3
          Microcephaly Microphthalmos Blindness 0
          Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism 1
          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
          Oculodentoosseous Dysplasia Recessive 0
          Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 0
          Thomas Jewett Raines Syndrome 0
          cataract 40 1
          isolated microphthalmia + 14
          nanophthalmos + 4
          optic disc anomalies with retinal and/or macular dystrophy 1
          syndromic microphthalmia + 51
          uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 12166
    disease of anatomical entity 11828
      nervous system disease 9535
        sensory system disease 4427
          eye disease 2230
            Eye Abnormalities 298
              microphthalmia 86
                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
                Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 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 0
                Holoprosencephaly 10 0
                Kaplowitz Bodurtha syndrome 0
                MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 2
                Macrosomia with Lethal Microphthalmia 0
                Matthew-Wood syndrome 3
                Microcephaly Microphthalmos Blindness 0
                Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism 1
                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
                Oculodentoosseous Dysplasia Recessive 0
                Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 0
                Thomas Jewett Raines Syndrome 0
                cataract 40 1
                isolated microphthalmia + 14
                nanophthalmos + 4
                optic disc anomalies with retinal and/or macular dystrophy 1
                syndromic microphthalmia + 51
                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.