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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
 broad_synonym: NHS-RELATED CONDITION
 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 OMIM
ClinVar		 PMID:19414485 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:14,097,006...14,206,568 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      eye disease 3323
        microphthalmia 206
          cataract 40 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            eye disease 3323
              Eye Abnormalities 760
                microphthalmia 206
                  cataract 40 1
paths to the root