ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 17 multiple types
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Accession:DOID:0110270 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. (DO)
Synonyms:exact_synonym: CATARACT 17, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;   CATCN3;   CTRCT17;   Cataract, Congenital Nuclear, Autosomal Recessive 3
 primary_id: MESH:C566923;   RDO:0015133
 alt_id: OMIM:611544
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cataract 17 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:8554872
G Crybb1 crystallin, beta B1 JBrowse link 12 50,390,939 50,404,550 RGD:7240710
RGD:8554872

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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          Hereditary Eye Diseases 496
            cataract 17 multiple types 2
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              lens disease 189
                cataract 182
                  cataract 17 multiple types 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.