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ONTOLOGY REPORT - ANNOTATIONS


Term:KLEEFSTRA SYNDROME 2
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Accession:DOID:9009077 term browser browse the term
Definition:An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features. (OMIM)
Synonyms:related_synonym: KLEFS2;   OMIM:617768
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KLEEFSTRA SYNDROME 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2c lysine methyltransferase 2C JBrowse link 4
4
82,506
6,083,650
109,986
6,294,413
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      musculoskeletal system disease 3973
        Musculoskeletal Abnormalities 1185
          KLEEFSTRA SYNDROME 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    KLEEFSTRA SYNDROME 2 1
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