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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:isolated microphthalmia 5
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Accession:DOID:0060837 term browser browse the term
Definition:An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: MCOP5;   microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome;   posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
 primary_id: MESH:C567024
 alt_id: MIM:611040
 xref: ICD10CM:Q15.8;   ORDO:251279


show annotations for term's descendants           Sort by:
isolated microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,364,546...46,380,545
Ensembl chr 9:46,364,936...46,380,544 		JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533 		JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,863,772...45,897,525
Ensembl chr 9:45,863,559...45,897,613 		JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:47,474,566...47,621,034
Ensembl chr 9:47,475,805...47,618,361 		JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,706,449...45,716,541
Ensembl chr 9:45,706,534...45,717,036 		JBrowse link
G BACE1 beta-secretase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,640,389...44,665,863
Ensembl chr 9:44,640,394...44,665,835 		JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,146,519...46,175,052
Ensembl chr 9:46,146,525...46,174,589 		JBrowse link
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen ClinVar PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... NCBI chr 9:46,548,175...46,550,146
Ensembl chr 9:46,548,131...46,550,172 		JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,321,761...46,331,078
Ensembl chr 9:46,321,817...46,331,078 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,482...45,633,968 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,230,365...46,239,433
Ensembl chr 9:46,230,395...46,239,433 		JBrowse link
G CEP164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,670,857...44,752,477
Ensembl chr 9:44,670,874...44,752,469 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,134,243...46,146,638
Ensembl chr 9:46,143,117...46,146,636 		JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,025,616...46,063,836
Ensembl chr 9:46,025,625...46,063,818 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,872...46,316,858 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,406,085...46,412,449
Ensembl chr 9:46,397,081...46,411,758 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,785,142...45,153,256
Ensembl chr 9:44,785,701...45,147,140 		JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,208,750...46,220,076
Ensembl chr 9:46,208,808...46,220,078 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,165,314...45,172,440 JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,182,396...45,218,249 JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:47,639,987...48,095,803
Ensembl chr 9:47,639,988...48,097,870 		JBrowse link
G H2AX H2A.X variant histone ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084 		JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,336,130...46,354,623
Ensembl chr 9:46,336,155...46,347,353 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,264,929...46,277,056
Ensembl chr 9:46,264,933...46,276,995 		JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,844,636...45,861,918
Ensembl chr 9:45,844,619...45,861,879 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,310,527...45,324,557
Ensembl chr 9:45,310,534...45,325,168 		JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,506,496...45,537,304
Ensembl chr 9:45,505,907...45,534,863 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083 		JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen OMIM
ClinVar		 PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,550,315...46,556,077 		JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185 		JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,536,024...45,564,210
Ensembl chr 9:45,536,028...45,564,194 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,401,377...46,409,804
Ensembl chr 9:46,401,713...46,406,219 		JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,384,373...46,400,752
Ensembl chr 9:46,384,948...46,400,983 		JBrowse link
G OAF out at first homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:47,344,916...47,363,768
Ensembl chr 9:47,345,165...47,362,998 		JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,513,114...44,534,312
Ensembl chr 9:44,513,461...44,536,432 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,567,573...44,596,549
Ensembl chr 9:44,567,577...44,596,484 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,902,099...45,949,415
Ensembl chr 9:45,902,155...45,949,415 		JBrowse link
G POU2F3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:47,376,852...47,458,265
Ensembl chr 9:47,376,750...47,460,165 		JBrowse link
G RNF214 ring finger protein 214 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,596,980...44,640,374
Ensembl chr 9:44,597,007...44,642,109 		JBrowse link
G RNF26 ring finger protein 26 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,543,732...46,546,570
Ensembl chr 9:46,543,735...46,546,569 		JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,237,911...46,242,174
Ensembl chr 9:46,235,737...46,242,432 		JBrowse link
G SC5D sterol-C5-desaturase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,165...48,372,386 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,484,994...45,502,578
Ensembl chr 9:45,484,998...45,498,465 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,451,473...45,475,606 JBrowse link
G SIDT2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,543,648...44,559,717
Ensembl chr 9:44,543,701...44,559,715 		JBrowse link
G SIK3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,223,227...44,471,689
Ensembl chr 9:44,223,232...44,513,831 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,247,278...46,254,068
Ensembl chr 9:46,247,284...46,254,031 		JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,345...48,653,655 		JBrowse link
G TAGLN transgelin ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,561,756...44,567,385
Ensembl chr 9:44,560,785...44,567,385 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274 		JBrowse link
G THY1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,607,022...46,612,691
Ensembl chr 9:46,607,494...46,612,269 		JBrowse link
G TLCD5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:47,464,840...47,472,819
Ensembl chr 9:47,464,905...47,472,764 		JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,834,197...45,838,978
Ensembl chr 9:45,829,196...45,838,972 		JBrowse link
G TMPRSS13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,239,349...45,269,757
Ensembl chr 9:45,241,008...45,258,034 		JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,400,263...45,436,936
Ensembl chr 9:45,400,600...45,435,916 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,242,196...46,246,344
Ensembl chr 9:46,242,171...46,246,343 		JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,949,891...45,965,372
Ensembl chr 9:45,949,894...45,965,341 		JBrowse link
G TRIM29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:47,256,314...47,284,104
Ensembl chr 9:47,256,317...47,284,006 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,829,014...45,838,978
Ensembl chr 9:45,829,191...45,838,979 		JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,661,090...45,701,911
Ensembl chr 9:45,661,106...45,704,810 		JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,200,465...46,202,754
Ensembl chr 9:46,200,512...46,202,735 		JBrowse link
G USP2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,563,469...46,590,392
Ensembl chr 9:46,563,482...46,590,392 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,739...46,297,474 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15392
    sensory system disease 6893
      eye disease 3543
        microphthalmia 220
          isolated microphthalmia 103
            isolated microphthalmia 5 71
Path 2
Term Annotations click to browse term
  disease 15392
    disease of anatomical entity 15086
      nervous system disease 13226
        Neurologic Manifestations 9793
          sensory system disease 6893
            eye disease 3543
              eye degenerative disease 832
                retinal degeneration 831
                  fundus dystrophy 697
                    retinitis pigmentosa 599
                      isolated microphthalmia 5 71
paths to the root