ONTOLOGY REPORT - ANNOTATIONS


Term:OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
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Accession:DOID:9001345 term browser browse the term
Definition:An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. (OMIM)
Synonyms:exact_synonym: OCNDS
 related_synonym: CSNK2A1- RELATED DISORDERS
 primary_id: OMIM:617062;   RDO:9001255
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OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csnk2a1 casein kinase 2 alpha 1 JBrowse link 3 147,713,808 147,760,375 RGD:8554872
RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  communication disorder 214
                    language disorder 138
                      speech disorder 48
                        OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.