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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;   nanophthalmia;   nanophthalmos;   simple microphthalmos
 narrow_synonym: syndromic microphthalmia, dominant
 related_synonym: anophthalmia/microphthalmia
 primary_id: MESH:D008850
 alt_id: RDO:0000404
 xref: GARD:12085;   ICD10CM:Q11.2;   ICD9CM:743.1;   ICD9CM:743.10;   ICD9CM:743.11;   NCI:C98989;   OMIM:PS251600;   OMIM:PS309800;   OMIM:PS600165;   ORDO:35612
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 NW_004955487 5,180,241 5,218,298 RGD:9068941
G Arhgap6 Rho GTPase activating protein 6 JBrowse link NW_004955544 1,619,742 2,095,314 RGD:9068941
G Arr3 arrestin 3 JBrowse link NW_004955475 9,819,783 9,835,526 RGD:9068941
G Bcor BCL6 corepressor JBrowse link NW_004955566 1,412,540 1,510,339 RGD:9068941
G Bmp4 bone morphogenetic protein 4 JBrowse link NW_004955409 9,432,835 9,439,680 RGD:9068941
G C1qtnf5 C1q and TNF related 5 JBrowse link NW_004955412 20,419,754 20,421,541 RGD:9068941
G Cdh1 cadherin 1 JBrowse link NW_004955484 7,782,409 7,861,082 RGD:9068941
G Cep83 centrosomal protein 83 JBrowse link NW_004955405 31,024,524 31,165,824 RGD:9068941
G Chrd chordin JBrowse link NW_004955420 23,111,690 23,120,038 RGD:9068941
G Dicer1 dicer 1, ribonuclease III JBrowse link NW_004955438 17,374,899 17,431,599 RGD:9068941
G Efhd1 EF-hand domain family member D1 JBrowse link NW_004955453 3,344,919 3,378,157 RGD:9068941
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link NW_004955556 745,175 812,215 RGD:9068941
G Fancd2 FA complementation group D2 JBrowse link NW_004955561 1,460,080 1,538,026 RGD:9068941
G Fat4 FAT atypical cadherin 4 JBrowse link NW_004955428 15,621,333 15,812,167 RGD:9068941
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004955514 1,030,244 1,038,590 RGD:9068941
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link NW_004955433 2,547,228 2,957,294 RGD:9068941
G Gja8 gap junction protein alpha 8 JBrowse link NW_004955568 514,905 516,551 RGD:9068941
G Gli2 GLI family zinc finger 2 JBrowse link NW_004955459 8,892,917 9,124,672 RGD:9068941
G Grasp general receptor for phosphoinositides 1 associated scaffold protein JBrowse link NW_004955547 2,377,612 2,385,918 RGD:9068941
G Hmx1 H6 family homeobox 1 JBrowse link NW_004955514 2,441,234 2,442,478 RGD:9068941
G Ift172 intraflagellar transport 172 JBrowse link NW_004955469 9,418,599 9,455,026 RGD:9068941
G Krtcap3 keratinocyte associated protein 3 JBrowse link NW_004955469 9,416,732 9,418,523 RGD:9068941
G LOC102006165 cytochrome c-type heme lyase JBrowse link NW_004955544 2,105,486 2,117,830 RGD:9068941
G LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial JBrowse link NW_004955557 1,341,934 1,348,610 RGD:9068941
G Lrp5 LDL receptor related protein 5 JBrowse link NW_004955422 17,394,371 17,475,244 RGD:9068941
G Map3k1 mitogen-activated protein kinase kinase kinase 1 JBrowse link NW_004955446 11,022,091 11,090,136 RGD:9068941
G Mfrp membrane frizzled-related protein JBrowse link NW_004955412 20,421,935 20,426,760 RGD:9068941
G Mid1 midline 1 JBrowse link NW_004955544 2,379,766 2,718,282 RGD:9068941
G Mitf melanocyte inducing transcription factor JBrowse link NW_004955421 17,948,117 18,157,379 RGD:9068941
G Myo1c myosin IC JBrowse link NW_004955481 1,676,788 1,701,421 RGD:9068941
G Ndst2 N-deacetylase and N-sulfotransferase 2 JBrowse link NW_004955437 18,090,198 18,099,328 RGD:9068941
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link NW_004955516 934,740 937,207 RGD:9068941
G Notch1 notch receptor 1 JBrowse link NW_004955513 4,225,939 4,264,875 RGD:9068941
G Notch4 notch receptor 4 JBrowse link NW_004955437 658,076 679,338 RGD:9068941
G Nr5a2 nuclear receptor subfamily 5 group A member 2 JBrowse link NW_004955406 36,263,257 36,415,494 RGD:9068941
G Otx2 orthodenticle homeobox 2 JBrowse link NW_004955466 10,755,143 10,764,957 RGD:9068941
G Pax6 paired box 6 JBrowse link NW_004955476 10,058,979 10,074,668 RGD:9068941
G Pfkp phosphofructokinase, platelet JBrowse link NW_004955421 28,042,973 28,098,358 RGD:9068941
G Pitx3 paired like homeodomain 3 JBrowse link NW_004955485 8,130,244 8,140,292 RGD:9068941
G Plxnc1 plexin C1 JBrowse link NW_004955405 30,885,277 31,023,947 RGD:9068941
G Prss56 serine protease 56 JBrowse link NW_004955453 3,440,871 3,446,090 RGD:9068941
G Ptch1 patched 1 JBrowse link NW_004955422 22,362,330 22,418,062 RGD:9068941
G Ralbp1 ralA binding protein 1 JBrowse link NW_004955402 2,571,672 2,616,040 RGD:9068941
G Rax retina and anterior neural fold homeobox JBrowse link NW_004955402 43,408,933 43,414,697 RGD:9068941
G Rpgrip1 RPGR interacting protein 1 JBrowse link NW_004955550 2,015,319 2,073,627 RGD:9068941
G Sall3 spalt like transcription factor 3 JBrowse link NW_004955402 62,157,988 62,163,977 RGD:9068941
G Sez6l2 seizure related 6 homolog like 2 JBrowse link NW_004955493 7,059,865 7,080,524 RGD:9068941
G Sfrp2 secreted frizzled related protein 2 JBrowse link NW_004955471 8,103,937 8,112,596 RGD:9068941
G Six6 SIX homeobox 6 JBrowse link NW_004955466 9,120,227 9,122,109 RGD:9068941
G Sox14 SRY-box transcription factor 14 JBrowse link NW_004955501 1,155,920 1,157,870 RGD:9068941
G Sox2 SRY-box transcription factor 2 JBrowse link NW_004955420 10,671,888 10,674,080 RGD:9068941
G Stau2 staufen double-stranded RNA binding protein 2 JBrowse link NW_004955444 6,538,310 6,777,132 RGD:9068941
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link NW_004955450 3,579,081 3,602,538 RGD:9068941
G Sulf1 sulfatase 1 JBrowse link NW_004955444 9,902,334 10,066,929 RGD:9068941
G Tfap2a transcription factor AP-2 alpha JBrowse link NW_004955465 3,877,896 3,900,259 RGD:9068941
G Tmem98 transmembrane protein 98 JBrowse link NW_004955481 7,788,066 7,797,433 RGD:9068941
G Tshz2 teashirt zinc finger homeobox 2 JBrowse link NW_004955445 5,571,587 5,830,728 RGD:9068941
G Vax2 ventral anterior homeobox 2 JBrowse link NW_004955424 14,283,336 14,309,809 RGD:9068941
G Vsx2 visual system homeobox 2 JBrowse link NW_004955523 1,192,035 1,207,949 RGD:9068941
G Wnt7a Wnt family member 7A JBrowse link NW_004955429 12,647,993 12,693,998 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 NW_004955402 7,544,265 7,661,191 RGD:7240710
RGD:9068941
cataract 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link NW_004955519 596,216 919,352 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 NW_004955543 348,314 378,391 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 NW_004955421 17,948,117 18,157,379 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 NW_004955555 1,463,031 1,481,411 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 NW_004955523 1,192,035 1,207,949 RGD:9068941
isolated microphthalmia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link NW_004955523 1,192,035 1,207,949 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 NW_004955402 43,408,933 43,414,697 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 NW_004955417 12,152,448 12,169,173 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 NW_004955412 20,419,754 20,421,541 RGD:9068941
G Mfrp membrane frizzled-related protein JBrowse link NW_004955412 20,421,935 20,426,760 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 NW_004955412 20,419,754 20,421,541 RGD:9068941
G Mfrp membrane frizzled-related protein JBrowse link NW_004955412 20,421,935 20,426,760 RGD:9068941
G Prss56 serine protease 56 JBrowse link NW_004955453 3,440,871 3,446,090 RGD:7240710
RGD:9068941
G Vsx2 visual system homeobox 2 JBrowse link NW_004955523 1,192,035 1,207,949 RGD:9068941
isolated microphthalmia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link NW_004955413 6,493,734 6,516,315 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 NW_004955416 27,823,611 27,858,112 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 NW_004955466 9,120,227 9,122,109 RGD:7240710
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 NW_004955519 596,216 919,352 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 NW_004955507 112,342 120,050 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 NW_004955523 1,192,035 1,207,949 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 NW_004955491 8,647,133 8,657,381 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 NW_004955413 6,493,734 6,516,315 RGD:7240710
RGD:9068941
G Gdf6 growth differentiation factor 6 JBrowse link NW_004955417 12,152,448 12,169,173 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 NW_004955453 14,215,104 14,222,338 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 NW_004955403 25,920,919 26,534,817 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 NW_004955416 27,823,611 27,858,112 RGD:9068941
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link NW_004955450 3,579,081 3,602,538 RGD:7240710
RGD:9068941
G Wnt7b Wnt family member 7B JBrowse link NW_004955413 30,146,185 30,185,693 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 NW_004955411 33,339,974 33,344,563 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 NW_004955522 530,752 666,752 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 NW_004955402 35,956,080 36,001,746 RGD:9068941
G Vsx2 visual system homeobox 2 JBrowse link NW_004955523 1,192,035 1,207,949 RGD:9068941
Microphthalmia, Syndromic 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 ADAM metallopeptidase domain 17 JBrowse link NW_004955487 5,180,241 5,218,298 RGD:9068941
G Arr3 arrestin 3 JBrowse link NW_004955475 9,819,783 9,835,526 RGD:9068941
G Bcor BCL6 corepressor JBrowse link NW_004955566 1,412,540 1,510,339 RGD:9068941
G Cdh1 cadherin 1 JBrowse link NW_004955484 7,782,409 7,861,082 RGD:9068941
G Cep83 centrosomal protein 83 JBrowse link NW_004955405 31,024,524 31,165,824 RGD:9068941
G Chrd chordin JBrowse link NW_004955420 23,111,690 23,120,038 RGD:9068941
G Dicer1 dicer 1, ribonuclease III JBrowse link NW_004955438 17,374,899 17,431,599 RGD:9068941
G Efhd1 EF-hand domain family member D1 JBrowse link NW_004955453 3,344,919 3,378,157 RGD:9068941
G Fat4 FAT atypical cadherin 4 JBrowse link NW_004955428 15,621,333 15,812,167 RGD:9068941
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004955514 1,030,244 1,038,590 RGD:9068941
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link NW_004955433 2,547,228 2,957,294 RGD:9068941
G Gli2 GLI family zinc finger 2 JBrowse link NW_004955459 8,892,917 9,124,672 RGD:9068941
G Grasp general receptor for phosphoinositides 1 associated scaffold protein JBrowse link NW_004955547 2,377,612 2,385,918 RGD:9068941
G Ift172 intraflagellar transport 172 JBrowse link NW_004955469 9,418,599 9,455,026 RGD:9068941
G Krtcap3 keratinocyte associated protein 3 JBrowse link NW_004955469 9,416,732 9,418,523 RGD:9068941
G Map3k1 mitogen-activated protein kinase kinase kinase 1 JBrowse link NW_004955446 11,022,091 11,090,136 RGD:9068941
G Mitf melanocyte inducing transcription factor JBrowse link NW_004955421 17,948,117 18,157,379 RGD:9068941
G Myo1c myosin IC JBrowse link NW_004955481 1,676,788 1,701,421 RGD:9068941
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link NW_004955580 604,805 609,978 RGD:7240710
RGD:9068941
G Ndst2 N-deacetylase and N-sulfotransferase 2 JBrowse link NW_004955437 18,090,198 18,099,328 RGD:9068941
G Notch1 notch receptor 1 JBrowse link NW_004955513 4,225,939 4,264,875 RGD:9068941
G Notch4 notch receptor 4 JBrowse link NW_004955437 658,076 679,338 RGD:9068941
G Nr5a2 nuclear receptor subfamily 5 group A member 2 JBrowse link NW_004955406 36,263,257 36,415,494 RGD:9068941
G Pax6 paired box 6 JBrowse link NW_004955476 10,058,979 10,074,668 RGD:9068941
G Pfkp phosphofructokinase, platelet JBrowse link NW_004955421 28,042,973 28,098,358 RGD:9068941
G Plxnc1 plexin C1 JBrowse link NW_004955405 30,885,277 31,023,947 RGD:9068941
G Ptch1 patched 1 JBrowse link NW_004955422 22,362,330 22,418,062 RGD:9068941
G Rax retina and anterior neural fold homeobox JBrowse link NW_004955402 43,408,933 43,414,697 RGD:9068941
G Rpgrip1 RPGR interacting protein 1 JBrowse link NW_004955550 2,015,319 2,073,627 RGD:9068941
G Sall3 spalt like transcription factor 3 JBrowse link NW_004955402 62,157,988 62,163,977 RGD:9068941
G Sez6l2 seizure related 6 homolog like 2 JBrowse link NW_004955493 7,059,865 7,080,524 RGD:9068941
G Sfrp2 secreted frizzled related protein 2 JBrowse link NW_004955471 8,103,937 8,112,596 RGD:9068941
G Six6 SIX homeobox 6 JBrowse link NW_004955466 9,120,227 9,122,109 RGD:9068941
G Sox14 SRY-box transcription factor 14 JBrowse link NW_004955501 1,155,920 1,157,870 RGD:9068941
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link NW_004955450 3,579,081 3,602,538 RGD:9068941
G Sulf1 sulfatase 1 JBrowse link NW_004955444 9,902,334 10,066,929 RGD:9068941
G Tshz2 teashirt zinc finger homeobox 2 JBrowse link NW_004955445 5,571,587 5,830,728 RGD:9068941
G Vax2 ventral anterior homeobox 2 JBrowse link NW_004955424 14,283,336 14,309,809 RGD:9068941
G Vsx2 visual system homeobox 2 JBrowse link NW_004955523 1,192,035 1,207,949 RGD:9068941
G Wnt7a Wnt family member 7A JBrowse link NW_004955429 12,647,993 12,693,998 RGD:9068941
Microphthalmia, Syndromic 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vax1 ventral anterior homeobox 1 JBrowse link NW_004955431 21,853,636 21,857,547 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 NW_004955430 17,067,536 17,457,558 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 NW_004955498 6,633,540 6,640,393 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcor BCL6 corepressor JBrowse link NW_004955566 1,412,540 1,510,339 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link NW_004955466 9,120,227 9,122,109 RGD:9068941
G Sox2 SRY-box transcription factor 2 JBrowse link NW_004955420 10,671,888 10,674,080 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 NW_004955580 604,805 609,978 RGD:9068941
Microphthalmia, Syndromic 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otx2 orthodenticle homeobox 2 JBrowse link NW_004955466 10,755,143 10,764,957 RGD:7240710
RGD:9068941
G Wnt7b Wnt family member 7B JBrowse link NW_004955413 30,146,185 30,185,693 RGD:9068941
Microphthalmia, Syndromic 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link NW_004955409 9,432,835 9,439,680 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102006165 cytochrome c-type heme lyase JBrowse link NW_004955544 2,105,486 2,117,830 RGD:7240710
RGD:9068941
G LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial JBrowse link NW_004955557 1,341,934 1,348,610 RGD:9068941
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link NW_004955516 934,740 937,207 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 NW_004955471 5,052,535 5,649,696 RGD:9068941
G Mab21l2 mab-21 like 2 JBrowse link NW_004955471 5,296,292 5,298,432 RGD:7240710
RGD:9068941
Nanophthalmos 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myrf myelin regulatory factor JBrowse link NW_004955511 5,927,103 5,949,289 RGD:9068941
Nanophthalmos 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link NW_004955412 20,419,754 20,421,541 RGD:9068941
G Mfrp membrane frizzled-related protein JBrowse link NW_004955412 20,421,935 20,426,760 RGD:7240710
RGD:9068941
Nanophthalmos 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem98 transmembrane protein 98 JBrowse link NW_004955481 7,788,066 7,797,433 RGD:7240710
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 NW_004955412 5,423,866 5,533,728 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11285
    sensory system disease 4062
      eye and adnexa disease 1950
        eye disease 1950
          microphthalmia 83
            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 0
            GOMBO Syndrome 0
            Ghose Sachdev Kumar Syndrome 0
            HEART AND BRAIN MALFORMATION SYNDROME 1
            Hittner Hirsch Kreh Syndrome 0
            Holoprosencephaly 10 0
            Isolated Microphthalmia with Cataract 1 0
            Isolated Microphthalmia with Cataract 2 1
            Isolated Microphthalmia with Cataract 3 1
            Isolated Microphthalmia with Cataract 4 0
            Isolated Microphthalmia with Coloboma + 7
            Isolated Microphthalmia with Corectopia 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
            Microphthalmia, Syndromic 1 40
            Microphthalmia, Syndromic 10 0
            Microphthalmia, Syndromic 11 1
            Microphthalmia, Syndromic 12 1
            Microphthalmia, Syndromic 13 1
            Microphthalmia, Syndromic 2 1
            Microphthalmia, Syndromic 3 2
            Microphthalmia, Syndromic 4 1
            Microphthalmia, Syndromic 5 2
            Microphthalmia, Syndromic 6 1
            Microphthalmia, Syndromic 7 3
            Nanophthalmos 1 1
            Nanophthalmos 2 2
            Nanophthalmos 3 0
            Nanophthalmos 4 1
            Oculodentoosseous Dysplasia Recessive 0
            Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 0
            Thomas Jewett Raines Syndrome 0
            cataract 40 1
            isolated microphthalmia 1 1
            isolated microphthalmia 2 1
            isolated microphthalmia 3 1
            isolated microphthalmia 4 1
            isolated microphthalmia 5 2
            isolated microphthalmia 6 4
            isolated microphthalmia 7 1
            isolated microphthalmia 8 1
            uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 11285
    disease of anatomical entity 10905
      nervous system disease 8730
        sensory system disease 4062
          eye and adnexa disease 1950
            eye disease 1950
              Eye Abnormalities 263
                microphthalmia 83
                  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 0
                  GOMBO Syndrome 0
                  Ghose Sachdev Kumar Syndrome 0
                  HEART AND BRAIN MALFORMATION SYNDROME 1
                  Hittner Hirsch Kreh Syndrome 0
                  Holoprosencephaly 10 0
                  Isolated Microphthalmia with Cataract 1 0
                  Isolated Microphthalmia with Cataract 2 1
                  Isolated Microphthalmia with Cataract 3 1
                  Isolated Microphthalmia with Cataract 4 0
                  Isolated Microphthalmia with Coloboma + 7
                  Isolated Microphthalmia with Corectopia 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
                  Microphthalmia, Syndromic 1 40
                  Microphthalmia, Syndromic 10 0
                  Microphthalmia, Syndromic 11 1
                  Microphthalmia, Syndromic 12 1
                  Microphthalmia, Syndromic 13 1
                  Microphthalmia, Syndromic 2 1
                  Microphthalmia, Syndromic 3 2
                  Microphthalmia, Syndromic 4 1
                  Microphthalmia, Syndromic 5 2
                  Microphthalmia, Syndromic 6 1
                  Microphthalmia, Syndromic 7 3
                  Nanophthalmos 1 1
                  Nanophthalmos 2 2
                  Nanophthalmos 3 0
                  Nanophthalmos 4 1
                  Oculodentoosseous Dysplasia Recessive 0
                  Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 0
                  Thomas Jewett Raines Syndrome 0
                  cataract 40 1
                  isolated microphthalmia 1 1
                  isolated microphthalmia 2 1
                  isolated microphthalmia 3 1
                  isolated microphthalmia 4 1
                  isolated microphthalmia 5 2
                  isolated microphthalmia 6 4
                  isolated microphthalmia 7 1
                  isolated microphthalmia 8 1
                  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.