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: hyperopia
Accession: DOID:9834
browse the term
Definition: A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. (DO)
Synonyms: exact_synonym: far-sightedness; farsightedness; hypermetropia
primary_id: MESH:D006956
xref: EFO:0006310 ; ICD10CM:H52.0 ; ICD9CM:367.0 ; MONDO:0004891
G
Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Hyperopia
ClinVar
PMID:25741868
NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
G
Myrf
myelin regulatory factor
ISO
DNA:mutations:multiple:
RGD
PMID:36129575
RGD:199225554
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
G
Nog
noggin
ISO
associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human)
RGD
PMID:16151340
RGD:12801467
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
G
Topors
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Hypermetropia
ClinVar
PMID:25741868 PMID:26720483 PMID:28492532
NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
G
Colec11
collectin sub-family member 11
ISO
ClinVar Annotator: match by term: 3MC syndrome 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
G
Masp1
MBL associated serine protease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258343
NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
G
Slc26a2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: OSA syndrome
ClinVar
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 More...
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
G
Ap4m1
adaptor related protein complex 4 subunit mu 1
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
G
Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar
PMID:25741868 PMID:26374271 PMID:29619239 PMID:30006060 PMID:30426380 PMID:31074943 More...
NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
G
Taf6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532
NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
G
Foxl2
forkhead box L2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1
CTD ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 More...
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
G
Foxl2
forkhead box L2
ISO
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:21325395 PMID:25741868 PMID:28492532 More...
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
G
Copb2
COPI coat complex subunit beta 2
ISO
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome
ClinVar
NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
G
Foxl2
forkhead box L2
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome OMIM:110100 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:27989324 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33796131 PMID:11175783 More...
RGD:1598958
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
G
Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome
ClinVar
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
G
Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Brown syndrome
ClinVar
PMID:25741868
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
G
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brown syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
G
Tubb4a
tubulin, beta 4A class IVa
ISO
ClinVar Annotator: match by term: Brown syndrome
ClinVar
PMID:25741868
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
G
Actr1b
actin related protein 1B
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 9:38,928,819...38,938,483
Ensembl chr 9:38,929,912...38,938,507
G
Chn1
chimerin 1
ISO ISS
ClinVar Annotator: match by term: Duane retraction syndrome OMIM:126800 | OMIM:604356 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
G
Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 PMID:22058051 PMID:25741868 PMID:27746867 PMID:28492532 More...
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
G
Cux1
cut-like homeobox 1
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
G
Fer
FER tyrosine kinase
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 9:103,520,452...103,827,364
Ensembl chr 9:103,520,493...103,821,451
G
Foxl2
forkhead box L2
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
G
Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
G
Kif5c
kinesin family member 5C
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
G
Mafb
MAF bZIP transcription factor B
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:126800 | OMIM:604356
CTD MouseDO
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Sall4
spalt-like transcription factor 4
ISO
DNA:snps, deletions, insertion:multiple (human) CTD Direct Evidence: marker/mechanism DNA:duplication:cds:c.410dupG (human) DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) DNA:nonsense mutation:cds:p.R905X (human) DNA:frameshift mutation:cds:p.M640IfsX25 (human)
CTD RGD
PMID:16402211 PMID:30067223 PMID:12393809 PMID:26791099 PMID:12395297 PMID:16411190 PMID:17216607 PMID:23687435 More...
RGD:11556210 , RGD:11532205 , RGD:11556232 , RGD:11556231 , RGD:11556215 , RGD:11556211
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
G
Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
G
Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Duane syndrome type 1
ClinVar
PMID:27181683
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
G
Chn1
chimerin 1
ISO
ClinVar Annotator: match by term: Duane retraction syndrome 2
OMIM ClinVar
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 PMID:21555619 PMID:25741868 PMID:28492532 More...
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
G
Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Duane retraction syndrome 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness
OMIM ClinVar
PMID:20436469 PMID:24989131 PMID:25741868 PMID:27181683 PMID:28492532
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
G
Tfap2a
transcription factor AP-2 alpha
ISO
ClinVar Annotator: match by term: Esotropia
ClinVar
PMID:25741868
NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
G
Tomm7
translocase of outer mitochondrial membrane 7
ISO
ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome
ClinVar OMIM
PMID:36282599 PMID:36299998
NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
G
Mfrp
membrane frizzled-related protein
ISO
DNA:missense, deletion, duplication mutations:cds:
RGD
PMID:26583794
RGD:11076374
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
G
Sobp
sine oculis binding protein homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus
OMIM CTD ClinVar
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532
NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541
G
Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Nanophthalmos 1
ClinVar
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
G
Tmem98
transmembrane protein 98
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nanophthalmos 4
OMIM CTD ClinVar
PMID:24852644 PMID:26392740
NCBI chr10:65,796,173...65,807,082
Ensembl chr10:65,796,145...65,807,079
G
Ahctf1
AT hook containing transcription factor 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
NCBI chr13:91,481,936...91,536,391
Ensembl chr13:91,481,936...91,536,391
G
Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:14710472
RGD:8699500
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
G
Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
G
Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 PMID:35253369 PMID:36405774 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
G
Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:21520333 PMID:23656349 PMID:25741868 PMID:28492532 PMID:29089047 PMID:33471991 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Olfm3
olfactomedin 3
ISO
ClinVar Annotator: match by term: Strabismus, susceptibility to
ClinVar
NCBI chr 2:202,729,610...202,952,120
Ensembl chr 2:202,729,936...202,952,112
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 PMID:20186801 PMID:21590266 PMID:22465605 PMID:22781091 PMID:23624134 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29493581 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
G
Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
G
Sox3
SRY-box transcription factor 3
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532
NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
G
Sox5
SRY-box transcription factor 5
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
G
Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
G
Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
G
Nog
noggin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
OMIM CTD ClinVar RGD
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 PMID:17668388 PMID:25741868 PMID:28492532 PMID:29159868 PMID:26211601 More...
RGD:12801450
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all