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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:Ectopia Lentis
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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 IAGP 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 1:150,549,378...150,560,937
Ensembl chr 1:150,549,369...150,560,937
JBrowse link
G ADAMTSL4-AS1 ADAMTSL4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Ectopia lentis ClinVar NCBI chr 1:150,560,895...150,574,552
Ensembl chr 1:150,560,202...150,574,552
JBrowse link
G ADAMTSL4-AS2 ADAMTSL4 antisense RNA 2 IAGP 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 1:150,548,564...150,556,700 JBrowse link
G FBN1 fibrillin 1 IAGP
EXP
DNA:missense mutation:cds:p.R240C (human)
ClinVar Annotator: match by term: Ectopia lentis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)
DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
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:8136837, PMID:26558191, PMID:22393277, PMID:15733436, PMID:22950452, PMID:22219643 RGD:1580380, RGD:1300363, RGD:12904906, RGD:12910138, RGD:12910140, RGD:12910479, RGD:12910481 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
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 IAGP 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 chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant ClinVar PMID:23218701, PMID:23401661, PMID:28492532 NCBI chr14:74,498,183...74,612,593
Ensembl chr14:74,498,183...74,612,378
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 IAGP ClinVar Annotator: match by term: Ectopia lentis, isolated autosomal recessive
ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive
ClinVar
OMIM
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 1:150,549,378...150,560,937
Ensembl chr 1:150,549,369...150,560,937
JBrowse link
G ADAMTSL4-AS2 ADAMTSL4 antisense RNA 2 IAGP ClinVar Annotator: match by term: Ectopia lentis, isolated autosomal recessive
ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive
ClinVar PMID:2056446, PMID:20141359, PMID:20564469, PMID:20702823, PMID:21051722, PMID:22736615, PMID:22871183, PMID:24033266, PMID:25741868, PMID:25975359, PMID:28492532, PMID:28642162 NCBI chr 1:150,548,564...150,556,700 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 IAGP ClinVar Annotator: match by term: Ectopia lentis et pupillae ClinVar
OMIM
PMID:2056446, PMID:20564469, PMID:20702823, PMID:21051722, PMID:22736615, PMID:22871183, PMID:24033266, PMID:25741868, PMID:25975359, PMID:28492532, PMID:28642162 NCBI chr 1:150,549,378...150,560,937
Ensembl chr 1:150,549,369...150,560,937
JBrowse link
G ADAMTSL4-AS2 ADAMTSL4 antisense RNA 2 IAGP ClinVar Annotator: match by term: Ectopia lentis et pupillae 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 1:150,548,564...150,556,700 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 IAGP ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs ClinVar
OMIM
PMID:11241487, PMID:23687502, PMID:24768550, PMID:30194805 NCBI chr 8:61,500,556...61,714,609
Ensembl chr 8:61,500,556...61,714,640
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 IAGP ClinVar Annotator: match by term: Microspherophakia ClinVar PMID:19361779, PMID:20179738, PMID:20617341, PMID:21081970, PMID:22025892, PMID:25741868, PMID:28492532 NCBI chr14:74,498,183...74,612,593
Ensembl chr14:74,498,183...74,612,378
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 IAGP OMIM NCBI chr14:74,498,183...74,612,593
Ensembl chr14:74,498,183...74,612,378
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 IAGP 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 chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17777
    sensory system disease 5474
      eye disease 2813
        Eye Abnormalities 396
          Ectopia Lentis 6
            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 2
            isolated ectopia lentis + 4
Path 2
Term Annotations click to browse term
  disease 17777
    disease of anatomical entity 16339
      nervous system disease 12617
        sensory system disease 5474
          eye disease 2813
            lens disease 217
              lens subluxation 7
                Ectopia Lentis 6
                  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 2
                  isolated 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.