Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:microphthalmia
go back to main search page
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;   NCI:C98989;   OMIM:PS251600;   OMIM:PS309800;   OMIM:PS600165;   ORDO:35612
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM17 ADAM metallopeptidase domain 17 JBrowse link 17 6,589,874 6,638,788 RGD:9068941
G ARHGAP6 Rho GTPase activating protein 6 JBrowse link X 7,704,838 8,188,358 RGD:9068941
G ARR3 arrestin 3 JBrowse link X 54,725,034 54,730,920 RGD:9068941
G BCOR BCL6 corepressor JBrowse link X 34,621,314 34,735,502 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 8 29,997,563 30,254,307 RGD:9068941
G C1QTNF5 C1q and TNF related 5 JBrowse link 5 14,561,115 14,563,277 RGD:9068941
G CDH1 cadherin 1 JBrowse link 5 80,757,508 80,834,878 RGD:9068941
G CEP83 centrosomal protein 83 JBrowse link 15 34,409,176 34,541,746 RGD:9068941
G CHRD chordin JBrowse link 34 17,255,770 17,264,776 RGD:9068941
G CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 28 7,416,022 7,424,173 RGD:9068941
G DICER1 dicer 1, ribonuclease III JBrowse link 8 63,970,245 64,029,438 RGD:9068941
G EFHD1 EF-hand domain family member D1 JBrowse link 25 44,281,673 44,307,347 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 28 1,358,383 1,432,276 RGD:9068941
G FANCD2 FA complementation group D2 JBrowse link 20 8,240,270 8,297,269 RGD:9068941
G FAT4 FAT atypical cadherin 4 JBrowse link 19 15,157,595 15,332,821 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 3 62,309,128 62,318,932 RGD:9068941
G FRAS1 Fraser extracellular matrix complex subunit 1 JBrowse link 32 2,558,442 2,993,199 RGD:9068941
G GJA8 gap junction protein alpha 8 JBrowse link 17 58,360,313 58,428,751 RGD:9068941
G GLI2 GLI family zinc finger 2 JBrowse link 19 29,128,401 29,383,324 RGD:9068941
G HCCS holocytochrome c synthase JBrowse link X 7,686,007 7,697,244 RGD:9068941
G HMX1 H6 family homeobox 1 JBrowse link 3 60,503,149 60,506,799 RGD:9068941
G IFT172 intraflagellar transport 172 JBrowse link 17 21,389,462 21,426,970 RGD:9068941
G KRTCAP3 keratinocyte associated protein 3 JBrowse link 17 21,387,682 21,389,385 RGD:9068941
G LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial JBrowse link X 60,192,698 60,197,547 RGD:9068941
G LRP5 LDL receptor related protein 5 JBrowse link 18 49,439,494 49,555,375 RGD:9068941
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 2 43,918,210 43,996,817 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 5 14,555,619 14,561,577 RGD:9068941
G MID1 midline 1 JBrowse link X 7,087,890 7,438,553 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:9068941
G MYO1C myosin IC JBrowse link 9 45,635,295 45,658,226 RGD:9068941
G NDST2 N-deacetylase and N-sulfotransferase 2 JBrowse link 4 24,235,051 24,243,411 RGD:9068941
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 40,744,408 40,746,831 RGD:9068941
G NOTCH1 notch receptor 1 JBrowse link 9 48,975,972 49,018,985 RGD:9068941
G NOTCH4 notch receptor 4 JBrowse link 12 1,585,249 1,608,721 RGD:9068941
G NR5A2 nuclear receptor subfamily 5 group A member 2 JBrowse link 7 2,925,915 3,062,118 RGD:9068941
G OTX2 orthodenticle homeobox 2 JBrowse link 8 32,435,169 32,445,093 RGD:9068941
G PFKP phosphofructokinase, platelet JBrowse link 2 32,220,876 32,254,354 RGD:9068941
G PITX3 paired like homeodomain 3 JBrowse link 28 14,760,741 14,775,584 RGD:9068941
G PLXNC1 plexin C1 JBrowse link 15 34,279,880 34,417,134 RGD:9068941
G PRSS56 serine protease 56 JBrowse link 25 44,157,247 44,165,625 RGD:9068941
G PTCH1 patched 1 JBrowse link 1 71,246,750 71,309,036 RGD:9068941
G RALBP1 ralA binding protein 1 JBrowse link 7 75,461,220 75,511,860 RGD:9068941
G RAX retina and anterior neural fold homeobox JBrowse link 1 16,940,671 16,945,127 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 15 18,316,887 18,388,724 RGD:9068941
G SALL3 spalt like transcription factor 3 JBrowse link 1 1,413,991 1,421,516 RGD:9068941
G SEZ6L2 seizure related 6 homolog like 2 JBrowse link 6 17,920,413 17,938,382 RGD:9068941
G SFRP2 secreted frizzled related protein 2 JBrowse link 15 51,541,197 51,548,765 RGD:9068941
G SIX6 SIX homeobox 6 JBrowse link 8 35,565,838 35,568,423 RGD:9068941
G SOX14 SRY-box transcription factor 14 JBrowse link 23 34,079,534 34,081,598 RGD:9068941
G SOX2 SRY-box transcription factor 2 JBrowse link 34 14,853,000 14,855,153 RGD:9068941
G STAU2 staufen double-stranded RNA binding protein 2 JBrowse link 29 21,995,229 22,292,107 RGD:9068941
G STRA6 signaling receptor and transporter of retinol STRA6 JBrowse link 30 37,331,834 37,359,449 RGD:9068941
G SULF1 sulfatase 1 JBrowse link 29 18,709,406 18,885,248 RGD:9068941
G TFAP2A transcription factor AP-2 alpha JBrowse link 35 10,157,043 10,180,484 RGD:9068941
G TMEM98 transmembrane protein 98 JBrowse link 9 40,130,421 40,144,120 RGD:9068941
G TSHZ2 teashirt zinc finger homeobox 2 JBrowse link 24 39,124,993 39,354,202 RGD:9068941
G VAX2 ventral anterior homeobox 2 JBrowse link 10 69,252,926 69,262,225 RGD:9068941
G VSX2 visual system homeobox 2 JBrowse link 8 47,455,337 47,473,786 RGD:9068941
G WNT7A Wnt family member 7A JBrowse link 20 4,072,010 4,139,521 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 7 69,359,286 69,505,067 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 13,487,919 13,834,869 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 42,004,268 42,024,726 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 20 21,772,147 21,873,545 RGD:7240710
RGD:9068941
Frontonasal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALX1 ALX homeobox 1 JBrowse link 15 26,838,615 26,858,786 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 1 111,416,396 111,438,069 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 8 47,455,337 47,473,786 RGD:9068941
isolated microphthalmia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VSX2 visual system homeobox 2 JBrowse link 8 47,455,337 47,473,786 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 16,940,671 16,945,127 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 29 40,676,851 40,694,174 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 5 14,561,115 14,563,277 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 5 14,555,619 14,561,577 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 5 14,561,115 14,563,277 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 5 14,555,619 14,561,577 RGD:9068941
G PRSS56 serine protease 56 JBrowse link 25 44,157,247 44,165,625 RGD:7240710
RGD:9068941
G VSX2 visual system homeobox 2 JBrowse link 8 47,455,337 47,473,786 RGD:9068941
isolated microphthalmia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF3 growth differentiation factor 3 JBrowse link 27 37,125,845 37,129,567 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 3 40,130,904 40,168,686 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 8 35,565,838 35,568,423 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 X 13,487,919 13,834,869 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 28 7,822,936 7,830,735 RGD:7240710
RGD:9068941
RGD:12801476
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VSX2 visual system homeobox 2 JBrowse link 8 47,455,337 47,473,786 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 16 18,650,553 18,663,571 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 27 37,125,845 37,129,567 RGD:7240710
RGD:9068941
G GDF6 growth differentiation factor 6 JBrowse link 29 40,676,851 40,694,174 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 JBrowse link 37 25,760,478 25,767,753 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 16 47,440,673 47,883,311 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 3 40,130,904 40,168,686 RGD:9068941
G STRA6 signaling receptor and transporter of retinol STRA6 JBrowse link 30 37,331,834 37,359,449 RGD:7240710
RGD:9068941
G WNT7B Wnt family member 7B JBrowse link 10 20,160,916 20,208,786 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 12 65,252,175 65,294,620 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 5 73,769,462 73,907,024 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 23,875,989 23,930,027 RGD:9068941
G VSX2 visual system homeobox 2 JBrowse link 8 47,455,337 47,473,786 RGD:9068941
Microphthalmia, Syndromic 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM17 ADAM metallopeptidase domain 17 JBrowse link 17 6,589,874 6,638,788 RGD:9068941
G ARR3 arrestin 3 JBrowse link X 54,725,034 54,730,920 RGD:9068941
G BCOR BCL6 corepressor JBrowse link X 34,621,314 34,735,502 RGD:9068941
G CDH1 cadherin 1 JBrowse link 5 80,757,508 80,834,878 RGD:9068941
G CEP83 centrosomal protein 83 JBrowse link 15 34,409,176 34,541,746 RGD:9068941
G CHRD chordin JBrowse link 34 17,255,770 17,264,776 RGD:9068941
G CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 28 7,416,022 7,424,173 RGD:9068941
G DICER1 dicer 1, ribonuclease III JBrowse link 8 63,970,245 64,029,438 RGD:9068941
G EFHD1 EF-hand domain family member D1 JBrowse link 25 44,281,673 44,307,347 RGD:9068941
G FAT4 FAT atypical cadherin 4 JBrowse link 19 15,157,595 15,332,821 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 3 62,309,128 62,318,932 RGD:9068941
G FRAS1 Fraser extracellular matrix complex subunit 1 JBrowse link 32 2,558,442 2,993,199 RGD:9068941
G GLI2 GLI family zinc finger 2 JBrowse link 19 29,128,401 29,383,324 RGD:9068941
G IFT172 intraflagellar transport 172 JBrowse link 17 21,389,462 21,426,970 RGD:9068941
G KRTCAP3 keratinocyte associated protein 3 JBrowse link 17 21,387,682 21,389,385 RGD:9068941
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 2 43,918,210 43,996,817 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:9068941
G MYO1C myosin IC JBrowse link 9 45,635,295 45,658,226 RGD:9068941
G NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 121,777,658 121,782,097 RGD:7240710
RGD:9068941
G NDST2 N-deacetylase and N-sulfotransferase 2 JBrowse link 4 24,235,051 24,243,411 RGD:9068941
G NOTCH1 notch receptor 1 JBrowse link 9 48,975,972 49,018,985 RGD:9068941
G NOTCH4 notch receptor 4 JBrowse link 12 1,585,249 1,608,721 RGD:9068941
G NR5A2 nuclear receptor subfamily 5 group A member 2 JBrowse link 7 2,925,915 3,062,118 RGD:9068941
G PFKP phosphofructokinase, platelet JBrowse link 2 32,220,876 32,254,354 RGD:9068941
G PLXNC1 plexin C1 JBrowse link 15 34,279,880 34,417,134 RGD:9068941
G PTCH1 patched 1 JBrowse link 1 71,246,750 71,309,036 RGD:9068941
G RAX retina and anterior neural fold homeobox JBrowse link 1 16,940,671 16,945,127 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 15 18,316,887 18,388,724 RGD:9068941
G SALL3 spalt like transcription factor 3 JBrowse link 1 1,413,991 1,421,516 RGD:9068941
G SEZ6L2 seizure related 6 homolog like 2 JBrowse link 6 17,920,413 17,938,382 RGD:9068941
G SFRP2 secreted frizzled related protein 2 JBrowse link 15 51,541,197 51,548,765 RGD:9068941
G SIX6 SIX homeobox 6 JBrowse link 8 35,565,838 35,568,423 RGD:9068941
G SOX14 SRY-box transcription factor 14 JBrowse link 23 34,079,534 34,081,598 RGD:9068941
G STRA6 signaling receptor and transporter of retinol STRA6 JBrowse link 30 37,331,834 37,359,449 RGD:9068941
G SULF1 sulfatase 1 JBrowse link 29 18,709,406 18,885,248 RGD:9068941
G TSHZ2 teashirt zinc finger homeobox 2 JBrowse link 24 39,124,993 39,354,202 RGD:9068941
G VAX2 ventral anterior homeobox 2 JBrowse link 10 69,252,926 69,262,225 RGD:9068941
G VSX2 visual system homeobox 2 JBrowse link 8 47,455,337 47,473,786 RGD:9068941
G WNT7A Wnt family member 7A JBrowse link 20 4,072,010 4,139,521 RGD:9068941
Microphthalmia, Syndromic 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VAX1 ventral anterior homeobox 1 JBrowse link 28 27,624,699 27,628,736 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 23 18,207,253 18,931,128 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 119,152,166 119,159,803 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCOR BCL6 corepressor JBrowse link X 34,621,314 34,735,502 RGD:7240710
RGD:9068941
Microphthalmia, Syndromic 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 8 35,565,838 35,568,423 RGD:9068941
G SOX2 SRY-box transcription factor 2 JBrowse link 34 14,853,000 14,855,153 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 121,777,658 121,782,097 RGD:9068941
Microphthalmia, Syndromic 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OTX2 orthodenticle homeobox 2 JBrowse link 8 32,435,169 32,445,093 RGD:7240710
RGD:9068941
G WNT7B Wnt family member 7B JBrowse link 10 20,160,916 20,208,786 RGD:9068941
Microphthalmia, Syndromic 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP4 bone morphogenetic protein 4 JBrowse link 8 29,997,563 30,254,307 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 7,686,007 7,697,244 RGD:7240710
RGD:9068941
G LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial JBrowse link X 60,192,698 60,197,547 RGD:9068941
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 40,744,408 40,746,831 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 15 48,273,866 48,996,546 RGD:9068941
G MAB21L2 mab-21 like 2 JBrowse link 15 48,538,912 48,541,651 RGD:7240710
RGD:9068941
Nanophthalmos 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYRF myelin regulatory factor JBrowse link 18 54,690,073 54,723,046 RGD:9068941
Nanophthalmos 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 5 14,561,115 14,563,277 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 5 14,555,619 14,561,577 RGD:7240710
RGD:9068941
Nanophthalmos 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM98 transmembrane protein 98 JBrowse link 9 40,130,421 40,144,120 RGD:7240710
RGD:9068941
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G YAP1 Yes associated protein 1 JBrowse link 5 29,394,760 29,495,977 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12037
    sensory system disease 4359
      eye and adnexa disease 2144
        eye disease 2144
          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 1
            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 39
            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 12037
    disease of anatomical entity 11687
      nervous system disease 9379
        sensory system disease 4359
          eye and adnexa disease 2144
            eye disease 2144
              Eye Abnormalities 272
                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 1
                  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 39
                  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

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.