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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:cataract 11 multiple types
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Accession:DOID:0110249 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: CATARACT 11, POSTERIOR POLAR;   CTRCT11
 narrow_synonym: CPP4;   CPP4 CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES;   CTPP4;   Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities;   posterior polar cataract 4
 primary_id: MESH:C535344
 alt_id: OMIM:610623
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cataract 11 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: CATARACT 11, MULTIPLE TYPES
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 11, posterior polar
OMIM
ClinVar
CTD
PMID:6801987, PMID:9620774, PMID:10361984, PMID:15286169, PMID:16565358, PMID:18989383 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
JBrowse link
Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities
DNA:deletion:exon:c.650delG(human)
ClinVar PMID:15286169, PMID:16565358, PMID:16565358 RGD:11535073 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          cataract 11 multiple types 1
            Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            lens disease 220
              cataract 213
                cataract 11 multiple types 1
                  Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 1
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.