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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:lens subluxation
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Accession:DOID:11364 term browser browse the term
Definition:Incomplete rupture of the zonule with the displaced lens remaining behind the pupil. In dislocation, or complete rupture, the lens is displaced forward into the anterior chamber or backward into the vitreous body. When congenital, this condition is known as ECTOPIA LENTIS.
Synonyms:exact_synonym: Lens Dislocation;   Lens Dislocation and Subluxation;   Lens Dislocations;   Lens Subluxations;   Subluxation of lens
 primary_id: MESH:D007906;   RDO:0005444
 xref: ICD10CM:H27.11;   ICD9CM:379.32;   NCI:C34772
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
lens subluxation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Lens subluxation
ClinVar Annotator: match by term: Lens dislocation
ClinVar PMID:7611299, PMID:7870075, PMID:8040326, PMID:8541880, PMID:8653794, PMID:8723076, PMID:8791520, PMID:8894692, PMID:9399842, PMID:9401003, PMID:9452085, PMID:9837823, PMID:10533071, PMID:10633129, PMID:10874320, PMID:11143906, PMID:11700157, PMID:11826022, PMID:11992479, PMID:12203987, PMID:12402346, PMID:12446365, PMID:12938084, PMID:14695540, PMID:15054843, PMID:15241795, PMID:16220557, PMID:16222657, PMID:16835936, PMID:16971892, PMID:17253931, PMID:17418587, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:18087243, PMID:18615205, PMID:19089573, PMID:19159394, PMID:19293843, PMID:19328768, PMID:19839986, PMID:21542060, PMID:21895641, PMID:21932315, PMID:22772377, PMID:23577066, PMID:24033266, PMID:24161884, PMID:24199744, PMID:24793577, PMID:24941995, PMID:25053872, PMID:25326635, PMID:25504618, PMID:25741868, PMID:25812041, PMID:25852444, PMID:26133393, PMID:28492532, PMID:29543232, PMID:31227806 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lens subluxation ClinVar PMID:25741868 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant OMIM
ClinVar
PMID:2005308, PMID:3495735, PMID:3536967, PMID:4750422, PMID:7738200, PMID:7802039, PMID:7870075, PMID:8004112, PMID:8136837, PMID:8188302, PMID:8281141, PMID:8430317, PMID:8563763, PMID:8653794, PMID:8723076, PMID:8941093, PMID:8988160, PMID:9150726, PMID:9338581, PMID:9338588, PMID:9399842, PMID:9401003, PMID:9817919, PMID:9837823, PMID:9876915, PMID:10189222, PMID:10229672, PMID:10464652, PMID:10486319, PMID:10533071, PMID:10633129, PMID:10679954, PMID:10694921, PMID:10930463, PMID:11068200, PMID:11139245, PMID:11524736, PMID:11700157, PMID:11748851, PMID:11826022, PMID:11875032, PMID:11933199, PMID:11992479, PMID:12068374, PMID:12161601, PMID:12203987, PMID:12203992, PMID:12402346, PMID:12446365, PMID:12651868, PMID:12938084, PMID:14598350, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15241795, PMID:15598221, PMID:15880509, PMID:16220557, PMID:16222657, PMID:16273536, PMID:16333834, PMID:16342915, PMID:16571647, PMID:16677079, PMID:16756980, PMID:16835936, PMID:16905551, PMID:16971892, PMID:17253931, PMID:17418587, PMID:17503327, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17701892, PMID:17718856, PMID:18079676, PMID:18087243, PMID:18310266, PMID:18435798, PMID:18615205, PMID:19012347, PMID:19059503, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19349279, PMID:19353630, PMID:19370756, PMID:19396033, PMID:19533785, PMID:19618372, PMID:19839986, PMID:19863550, PMID:19941982, PMID:20200614, PMID:20375004, PMID:20564469, PMID:20591885, PMID:20979188, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21683322, PMID:21784848, PMID:21883168, PMID:21895641, PMID:21907952, PMID:21932315, PMID:22539873, PMID:22772377, PMID:23133647, PMID:23278365, PMID:23506379, PMID:23577066, PMID:23590259, PMID:23608731, PMID:23653584, PMID:23684891, PMID:23719250, PMID:23794388, PMID:23897642, PMID:24033266, PMID:24039054, PMID:24055113, PMID:24161884, PMID:24311428, PMID:24564502, PMID:24635535, PMID:24665001, PMID:24740214, PMID:24793577, PMID:24833718, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25203624, PMID:25326635, PMID:25504618, PMID:25519456, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25736269, PMID:25741868, PMID:25812041, PMID:25852444, PMID:25900864, PMID:25907466, PMID:25944730, PMID:25979247, PMID:26026792, PMID:26188975, PMID:26272055, PMID:26332594, PMID:26333736, PMID:26498160, PMID:26621581, PMID:26684006, PMID:26787436, PMID:26875674, PMID:27112580, PMID:27146836, PMID:27153395, PMID:27353645, PMID:27437668, PMID:27582083, PMID:27611364, PMID:27930701, PMID:28050602, PMID:28098115, PMID:28254189, PMID:28492532, PMID:28497567, PMID:28539832, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28847661, PMID:28941062, PMID:28973303, PMID:29168297, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29848614, PMID:29907982, PMID:30311386, PMID:30675029, PMID:30739908, PMID:31008308, PMID:31163209, PMID:31211626 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant ClinVar PMID:23218701, PMID:23401661, PMID:28492532 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive
ClinVar Annotator: match by term: Ectopia lentis, isolated autosomal recessive
OMIM
ClinVar
PMID:2056446, PMID:2377351, PMID:19200529, PMID:20141359, PMID:20564469, PMID:20702823, PMID:21051722, PMID:22736615, PMID:22871183, PMID:24033266, PMID:25741868, PMID:25975359, PMID:28492532, PMID:28642162 NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808
JBrowse link
Ectopia Lentis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis ClinVar PMID:2056446, PMID:20564469, PMID:20702823, PMID:21051722, PMID:22736615, PMID:22871183, PMID:24033266, PMID:25975359, PMID:28492532, PMID:28642162 NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808
JBrowse link
G Fbn1 fibrillin 1 ISO DNA:missense mutation:cds:p.R240C (human)
ClinVar Annotator: match by term: Ectopia lentis
DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7611299, PMID:7870075, PMID:8653794, PMID:8723076, PMID:8894692, PMID:9399842, PMID:9401003, PMID:9837823, PMID:10533071, PMID:10633129, PMID:10874320, PMID:11700157, PMID:11992479, PMID:12402346, PMID:12938084, PMID:14695540, PMID:16220557, PMID:16222657, PMID:16835936, PMID:17253931, PMID:17418587, PMID:17627385, PMID:17657824, PMID:17663468, PMID:19159394, PMID:19293843, PMID:21542060, PMID:21895641, PMID:22772368, PMID:23577066, PMID:24033266, PMID:24161884, PMID:24793577, PMID:24941995, PMID:25326635, PMID:25504618, PMID:25741868, PMID:25812041, PMID:25852444, PMID:26133393, PMID:28492532, PMID:29543232, PMID:31227806, PMID:15054843, PMID:22219643, PMID:22950452, PMID:15733436, PMID:22393277, PMID:26558191, PMID:8136837 RGD:1580380, RGD:12910481, RGD:12910479, RGD:12910140, RGD:12910138, RGD:12904906, RGD:1300363 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
ectopia lentis with ectopia of pupil term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis et pupillae
ClinVar Annotator: match by OMIM:225200
OMIM
ClinVar
PMID:2056446, PMID:20564469, PMID:20702823, PMID:21051722, PMID:22736615, PMID:22871183, PMID:24033266, PMID:25741868, PMID:25975359, PMID:28492532, PMID:28642162 NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808
JBrowse link
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
ClinVar Annotator: match by OMIM:601552
OMIM
ClinVar
PMID:11241487, PMID:23687502, PMID:24768550, PMID:30194805 NCBI chr 5:22,577,680...22,799,333
Ensembl chr 5:22,577,675...22,799,349
JBrowse link
Microspherophakia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia ClinVar PMID:19361779, PMID:20179738, PMID:20617341, PMID:21081970, PMID:22025892, PMID:25741868, PMID:28492532 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO OMIM NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 2
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
ClinVar
OMIM
PMID:2005308, PMID:4750422, PMID:7802039, PMID:7870075, PMID:8653794, PMID:8723076, PMID:9338581, PMID:9399842, PMID:9401003, PMID:9837823, PMID:10464652, PMID:10533071, PMID:10633129, PMID:10930463, PMID:11068200, PMID:11524736, PMID:11700157, PMID:11748851, PMID:11826022, PMID:11933199, PMID:11992479, PMID:12068374, PMID:12203987, PMID:12203992, PMID:12446365, PMID:12525539, PMID:12938084, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15241795, PMID:15880509, PMID:16220557, PMID:16222657, PMID:16342915, PMID:16571647, PMID:16677079, PMID:16756980, PMID:16971892, PMID:17253931, PMID:17418587, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17701892, PMID:17718856, PMID:18079676, PMID:18087243, PMID:18310266, PMID:18435798, PMID:18615205, PMID:19012347, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19353630, PMID:19533785, PMID:19618372, PMID:19839986, PMID:19863550, PMID:19941982, PMID:20375004, PMID:20564469, PMID:21542060, PMID:21883168, PMID:21895641, PMID:21907952, PMID:22772377, PMID:23506379, PMID:23577066, PMID:23608731, PMID:23719250, PMID:23794388, PMID:24033266, PMID:24161884, PMID:24793577, PMID:24833718, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25326635, PMID:25504618, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25741868, PMID:25812041, PMID:25852444, PMID:25907466, PMID:25944730, PMID:26272055, PMID:26333736, PMID:26498160, PMID:26621581, PMID:26787436, PMID:27146836, PMID:27153395, PMID:27353645, PMID:27437668, PMID:27582083, PMID:27611364, PMID:27930701, PMID:28050602, PMID:28098115, PMID:28492532, PMID:28539832, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28847661, PMID:28973303, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29848614, PMID:29907982, PMID:30311386, PMID:30675029, PMID:30739908, PMID:31163209, PMID:31211626 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        lens disease 220
          lens subluxation 5
            Ectopia Lentis + 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            lens disease 220
              lens subluxation 5
                Ectopia Lentis + 4
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.