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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 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 chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980
JBrowse link
G FBN1 fibrillin 1 ISO DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
ClinVar Annotator: match by term: Ectopia lentis
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
DNA:missense mutation:cds:p.R240C (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:7611299, PMID:7870075, PMID:8136837, 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:15054843, PMID:15733436, 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:22219643, PMID:22393277, PMID:22772368, PMID:22950452, PMID:23577066, PMID:24033266, PMID:24161884, PMID:24793577, PMID:24941995, PMID:25326635, PMID:25504618, PMID:25741868, PMID:25812041, PMID:25852444, PMID:26133393, PMID:26558191, PMID:28492532, PMID:29543232, PMID:31227806 RGD:12904906, RGD:12910138, RGD:12910140, RGD:12910479, RGD:12910481, RGD:1300363, RGD:1580380 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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 OMIM NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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 8:47,657,618...47,758,257
Ensembl chr 8:47,659,363...47,760,938
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 OMIM NCBI chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980
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 OMIM NCBI chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980
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 OMIM NCBI chr29:11,812,275...12,022,755
Ensembl chr29:11,814,554...12,022,680
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 8:47,657,618...47,758,257
Ensembl chr 8:47,659,363...47,760,938
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 8:47,657,618...47,758,257
Ensembl chr 8:47,659,363...47,760,938
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 OMIM NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12675
    sensory system disease 4762
      eye disease 2450
        Eye Abnormalities 350
          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 12675
    disease of anatomical entity 12213
      nervous system disease 9961
        sensory system disease 4762
          eye disease 2450
            lens disease 196
              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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.