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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 9 multiple types
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Accession:DOID:0110266 term browser browse the term
Definition:A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. (DO)
Synonyms:exact_synonym: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1;   CATC1;   CTRCT9;   Cataract 9, multiple types, with or without microcornea
 narrow_synonym: CATARACT 9, AUTOSOMAL RECESSIVE;   Cataract, Autosomal Dominant;   Cataract, autosomal dominant, multiple types, with microcornea
 primary_id: MESH:C565815;   RDO:0014356
 alt_id: OMIM:604219
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 9 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:7240710
RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:737764

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Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          cataract 9 multiple types 2
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 9 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.