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ONTOLOGY REPORT - ANNOTATIONS


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;   cataract 40, X-linked;   congenital cataract with microcornea or slight microphthalmia;   congenital cataract, X-linked;   total congenital cataract
 primary_id: MESH:C535338
 alt_id: OMIM:302200;   RDO:0000403
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cataract 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    sensory system disease 4681
      eye and adnexa disease 2253
        eye disease 2253
          microphthalmia 91
            cataract 40 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              Eye Abnormalities 279
                microphthalmia 91
                  cataract 40 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.