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ONTOLOGY REPORT - ANNOTATIONS


Term:Cataract 48
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Accession:DOID:9001214 term browser browse the term
Definition:Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment. CTRCT48 is caused by homozygous mutation in the DNMBP gene on chromosome 10q24. (OMIM)
Synonyms:exact_synonym: CTRCT48
 primary_id: OMIM:618415
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Cataract 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmbp dynamin binding protein JBrowse link 1 263,625,503 263,718,784 RGD:7240710
RGD:8554872

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  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          Cataract 48 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              lens disease 194
                cataract 187
                  Cataract 48 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.