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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 40
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Accession:DOID:0110272 term browser browse the term
Definition:A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: CATARACT 40 WITH OR WITHOUT MICROCORNEA;   CCT;   CTRCT40;   CXN;   Cataract, total congenital with posterior sutural opacities in Heterozygotes;   X-linked congenital cataract;   cataract 40, X-linked;   congenital cataract with microcornea or slight microphthalmia;   total congenital cataract
 primary_id: MESH:C535338
 alt_id: OMIM:302200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cataract 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by OMIM:302200
ClinVar Annotator: match by term: CATARACT 40 WITH OR WITHOUT MICROCORNEA
OMIM
ClinVar
PMID:19414485 PMID:25741868 PMID:28492532 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      eye disease 2646
        microphthalmia 95
          cataract 40 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          eye disease 2646
            Eye Abnormalities 357
              microphthalmia 95
                cataract 40 1
paths to the root