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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



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 term: Cataract 40
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19414485 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    sensory system disease 6892
      eye disease 3450
        microphthalmia 214
          cataract 40 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        Neurologic Manifestations 9994
          sensory system disease 6892
            eye disease 3450
              Eye Abnormalities 781
                microphthalmia 214
                  cataract 40 1
paths to the root