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

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:Ectopia Lentis
go back to main search page
Accession:DOID:9004201 term browser browse the term
Definition:Congenital displacement of the lens resulting from defective zonule formation.
Synonyms:primary_id: MESH:D004479;   RDO:0001568
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 3:95,676,201...95,687,927
Ensembl chr 3:95,676,201...95,687,917
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 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
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 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
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 chr12:84,783,212...84,876,558
Ensembl chr12:84,783,212...84,876,532
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
IEA
ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive
ClinVar Annotator: match by term: Ectopia lentis, isolated autosomal recessive
OMIM:225100
OMIM
ClinVar
MouseDO
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 3:95,676,201...95,687,927
Ensembl chr 3:95,676,201...95,687,917
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 3:95,676,201...95,687,927
Ensembl chr 3:95,676,201...95,687,917
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 4:9,449,085...9,669,344
Ensembl chr 4:9,448,069...9,669,344
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 chr12:84,783,212...84,876,558
Ensembl chr12:84,783,212...84,876,532
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 chr12:84,783,212...84,876,558
Ensembl chr12:84,783,212...84,876,532
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 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13334
    sensory system disease 4966
      eye disease 2565
        Eye Abnormalities 365
          Ectopia Lentis 4
            Blepharoptosis Myopia Ectopia Lentis 0
            Craniosynostosis with Ectopia Lentis 0
            Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
            Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 0
            Microspherophakia + 1
            Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
            Noble Bass Sherman Syndrome 0
            Weill-Marchesani Syndrome 2 1
            Zazam Sheriff Phillips Syndrome 0
            ectopia lentis with ectopia of pupil 1
            isolated ectopia lentis + 3
Path 2
Term Annotations click to browse term
  disease 13334
    disease of anatomical entity 12815
      nervous system disease 10374
        sensory system disease 4966
          eye disease 2565
            lens disease 209
              lens subluxation 5
                Ectopia Lentis 4
                  Blepharoptosis Myopia Ectopia Lentis 0
                  Craniosynostosis with Ectopia Lentis 0
                  Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
                  Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 0
                  Microspherophakia + 1
                  Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
                  Noble Bass Sherman Syndrome 0
                  Weill-Marchesani Syndrome 2 1
                  Zazam Sheriff Phillips Syndrome 0
                  ectopia lentis with ectopia of pupil 1
                  isolated ectopia lentis + 3
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.