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 4:98,577,813...98,589,255
Ensembl chr 4:98,577,820...98,589,175
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Ectopia lentis
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)
DNA:missense mutation:cds:p.R240C (human)
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)
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 chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
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 chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
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 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502
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 chr 4:98,577,813...98,589,255
Ensembl chr 4:98,577,820...98,589,175
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 chr 4:98,577,813...98,589,255
Ensembl chr 4:98,577,820...98,589,175
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 chr 4:71,902,891...72,107,047
Ensembl chr 4:71,903,359...72,107,046
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 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502
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 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502
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 chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12615
    sensory system disease 4728
      eye disease 2437
        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 12615
    disease of anatomical entity 12148
      nervous system disease 9901
        sensory system disease 4728
          eye disease 2437
            lens disease 197
              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.