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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 21 multiple types
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Accession:DOID:0110256 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. (DO)
Synonyms:exact_synonym: CCA4;   CTRCT21;   cataract 21 multiple types, with or without microcornea;   congenital cataract, cerulean type, 4;   pulverulent cataract, juvenile-onset
 primary_id: MESH:C565703
 alt_id: OMIM:610202
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show annotations for term's descendants       view all columns           Sort by:
 
cataract 21 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dynlrb2 dynein light chain roadblock-type 2 JBrowse link 19 49,016,919 49,028,400 RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:7240710
RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          cataract 21 multiple types 3
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          eye disease 2385
            lens disease 196
              cataract 189
                cataract 21 multiple types 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.