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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: MIM: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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 40 | ClinVar Annotator: match by term: Cataract 40, X-linked		 OMIM
CTD
ClinVar		 PMID:14564667 PMID:16736028 PMID:18949062 PMID:19414485 PMID:23757202 More... NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        microphthalmia 229
          cataract 40 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              Eye Abnormalities 814
                microphthalmia 229
                  cataract 40 1
paths to the root