ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 3 multiple types
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Accession:DOID:0110269 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. (DO)
Synonyms:exact_synonym: CTRCT3;   Cataract, Congenital, Blue Dot Type, 2;   cataract 3 multiple types with or without microcornea
 narrow_synonym: CCA2;   congenital Cerulean type cataract 2
 primary_id: MESH:C563294;   OMIM:601547;   RDO:0008824
 alt_id: RDO:0012598
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cataract 3 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:7240710
RGD:8554872

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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          cataract 3 multiple types 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          eye and adnexa disease 1996
            eye disease 1996
              lens disease 191
                cataract 184
                  cataract 3 multiple types 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.