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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.

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 6 43,400,525 43,448,280 RGD:8554872
G Arhgap6 Rho GTPase activating protein 6 JBrowse link X 26,314,561 26,845,242 RGD:13592920
G Arr3 arrestin 3 JBrowse link X 70,438,590 70,452,140 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:13592920
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920
RGD:8554872
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
G Cep83 centrosomal protein 83 JBrowse link 7 35,739,553 35,847,618 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:8554872
G Cox7b cytochrome c oxidase subunit 7B JBrowse link X 77,065,427 77,071,676 RGD:13592920
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:8554872
G Dicer1 dicer 1 ribonuclease III JBrowse link 6 128,388,084 128,453,234 RGD:8554872
G Efhd1 EF-hand domain family, member D1 JBrowse link 9 94,362,249 94,408,884 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:11344906
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:2293186
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub RGD:2293186
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Grasp general receptor for phosphoinositides 1 associated scaffold protein JBrowse link 7 142,869,785 142,877,551 RGD:8554872
G Hccs holocytochrome c synthase JBrowse link X 26,294,028 26,303,461 RGD:1600417
RGD:13592920
G Hmx1 H6 family homeobox 1 JBrowse link 14 80,540,558 80,544,607 RGD:11554173
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Krtcap3 keratinocyte associated protein 3 JBrowse link 6 26,485,126 26,486,695 RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:12793059
G Map3k1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 2 43,329,516 43,393,203 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:11553922
RGD:8554872
RGD:13592920
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:13592920
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
G Myo1c myosin 1C JBrowse link 10 63,803,311 63,819,614 RGD:8554872
G Ndst2 N-deacetylase and N-sulfotransferase 2 JBrowse link 15 3,995,797 4,006,491 RGD:8554872
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 1,787,266 1,789,524 RGD:13592920
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:8554872
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 JBrowse link 13 53,750,470 53,870,288 RGD:8554872
G Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:13592920
RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552240
RGD:8554872
G Pfkp phosphofructokinase, platelet JBrowse link 17 68,510,765 68,574,387 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:11535071
RGD:11554173
G Plxnc1 plexin C1 JBrowse link 7 35,848,083 36,000,969 RGD:8554872
G Prss56 serine protease 56 JBrowse link 9 94,278,981 94,284,111 RGD:11554173
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Ralbp1 ralA binding protein 1 JBrowse link 9 113,579,107 113,598,477 RGD:13592920
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Sfrp2 secreted frizzled-related protein 2 JBrowse link 2 182,723,732 182,731,277 RGD:8554872
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
RGD:13592920
G Sox14 SRY-box transcription factor 14 JBrowse link 8 108,107,865 108,109,801 RGD:8554872
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:13592920
G Stau2 staufen double-stranded RNA binding protein 2 JBrowse link 5 2,257,910 2,497,429 RGD:10043154
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
RGD:8554872
G Sulf1 sulfatase 1 JBrowse link 5 5,999,520 6,186,901 RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
G Tmem98 transmembrane protein 98 JBrowse link 10 68,173,380 68,184,289 RGD:13592920
G Tshz2 teashirt zinc finger homeobox 2 JBrowse link 3 166,469,752 166,748,558 RGD:8554872
G Vax2 ventral anterior homeobox 2 JBrowse link 4 115,388,839 115,412,515 RGD:8554872
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:8554872
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 9 119,675,750 119,818,620 RGD:11554173
RGD:7240710
RGD:8554872
cataract 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:7240710
RGD:8554872
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 15,295,372 15,316,673 RGD:7240710
RGD:8554872
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 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
Frontonasal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx1 ALX homeobox 1 JBrowse link 7 44,751,865 44,771,458 RGD:7240710
RGD:8554872
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 81,259,450 81,282,893 RGD:8554872
RGD:7240710
isolated microphthalmia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
isolated microphthalmia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
RGD:7240710
isolated microphthalmia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:7240710
RGD:8554872
isolated microphthalmia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:7240710
RGD:8554872
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:7240710
RGD:8554872
RGD:11553925
isolated microphthalmia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:8554872
G Prss56 serine protease 56 JBrowse link 9 94,278,981 94,284,111 RGD:7240710
RGD:8554872
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
isolated microphthalmia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:7240710
RGD:8554872
isolated microphthalmia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 JBrowse link 1 127,302,920 127,337,828 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
RGD:7240710
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:7240710
RGD:8554872
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:7240710
RGD:8554872
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 9 82,373,950 82,382,228 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Coloboma 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tenm3 teneurin transmembrane protein 3 JBrowse link 16 46,422,676 46,929,023 RGD:8554872
RGD:7240710
Matthew-Wood syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 JBrowse link 1 127,302,920 127,337,828 RGD:8554872
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link 8 62,925,364 62,944,438 RGD:7240710
RGD:8554872
RGD:11554173
G Wnt7b Wnt family member 7B JBrowse link 7 126,423,418 126,465,724 RGD:8554872
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 20 47,225,382 47,263,390 RGD:7240710
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 19 46,005,055 46,167,912 RGD:7240710
RGD:8554872
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:12880033
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
Microphthalmia, Syndromic 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 ADAM metallopeptidase domain 17 JBrowse link 6 43,400,525 43,448,280 RGD:8554872
G Arr3 arrestin 3 JBrowse link X 70,438,590 70,452,140 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:1600504
RGD:8554872
RGD:11554173
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
G Cep83 centrosomal protein 83 JBrowse link 7 35,739,553 35,847,618 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:8554872
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 1 256,369,410 256,380,649 RGD:8554872
G Dicer1 dicer 1 ribonuclease III JBrowse link 6 128,388,084 128,453,234 RGD:8554872
G Efhd1 EF-hand domain family, member D1 JBrowse link 9 94,362,249 94,408,884 RGD:8554872
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Grasp general receptor for phosphoinositides 1 associated scaffold protein JBrowse link 7 142,869,785 142,877,551 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Krtcap3 keratinocyte associated protein 3 JBrowse link 6 26,485,126 26,486,695 RGD:8554872
G Map3k1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 2 43,329,516 43,393,203 RGD:8554872
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
G Myo1c myosin 1C JBrowse link 10 63,803,311 63,819,614 RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:7240710
RGD:8554872
G Ndst2 N-deacetylase and N-sulfotransferase 2 JBrowse link 15 3,995,797 4,006,491 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:8554872
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 JBrowse link 13 53,750,470 53,870,288 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Pfkp phosphofructokinase, platelet JBrowse link 17 68,510,765 68,574,387 RGD:8554872
G Plxnc1 plexin C1 JBrowse link 7 35,848,083 36,000,969 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Sfrp2 secreted frizzled-related protein 2 JBrowse link 2 182,723,732 182,731,277 RGD:8554872
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
G Sox14 SRY-box transcription factor 14 JBrowse link 8 108,107,865 108,109,801 RGD:8554872
G Stra6 signaling receptor and transporter of retinol STRA6 JBrowse link 8 62,925,364 62,944,438 RGD:8554872
G Sulf1 sulfatase 1 JBrowse link 5 5,999,520 6,186,901 RGD:8554872
G Tshz2 teashirt zinc finger homeobox 2 JBrowse link 3 166,469,752 166,748,558 RGD:8554872
G Vax2 ventral anterior homeobox 2 JBrowse link 4 115,388,839 115,412,515 RGD:8554872
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:8554872
Microphthalmia, Syndromic 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vax1 ventral anterior homeobox 1 JBrowse link 1 280,334,897 280,338,813 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rarb retinoic acid receptor, beta JBrowse link 15 9,915,223 10,262,599 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgb3 high mobility group box 3 JBrowse link 17 36,690,190 36,694,329 RGD:7240710
Microphthalmia, Syndromic 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:7240710
RGD:8554872
RGD:11554173
Microphthalmia, Syndromic 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:11554173
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:7240710
RGD:8554872
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 156,863,655 156,868,950 RGD:8554872
Microphthalmia, Syndromic 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:8554872
RGD:7240710
G Wnt7b Wnt family member 7B JBrowse link 7 126,423,418 126,465,724 RGD:8554872
Microphthalmia, Syndromic 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:7240710
RGD:8554872
Microphthalmia, Syndromic 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox7b cytochrome c oxidase subunit 7B JBrowse link X 77,065,427 77,071,676 RGD:11554173
G Hccs holocytochrome c synthase JBrowse link X 26,294,028 26,303,461 RGD:7240710
RGD:8554872
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 1,787,266 1,789,524 RGD:11554173
RGD:8554872
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 2 185,590,983 186,110,491 RGD:8554872
G Mab21l2 mab-21 like 2 JBrowse link 2 185,849,749 185,852,833 RGD:8554872
RGD:7240710
Nanophthalmos 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myrf myelin regulatory factor JBrowse link 1 226,260,558 226,292,650 RGD:8554872
Nanophthalmos 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:7240710
RGD:8554872
Nanophthalmos 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem98 transmembrane protein 98 JBrowse link 10 68,173,380 68,184,289 RGD:7240710
RGD:8554872
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 8 6,133,014 6,204,240 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    sensory system disease 4697
      eye and adnexa disease 2259
        eye disease 2259
          microphthalmia 91
            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 41
            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 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              Eye Abnormalities 280
                microphthalmia 91
                  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 41
                  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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