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ONTOLOGY REPORT - ANNOTATIONS


Term:ALKURAYA-KUCINSKAS SYNDROME
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Accession:DOID:9009108 term browser browse the term
Definition:An autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. (OMIM)
Synonyms:exact_synonym: ALKKUCS
 primary_id: OMIM:617822
For additional species annotation, visit the Alliance of Genome Resources.


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ALKURAYA-KUCINSKAS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1307100 similar to RIKEN cDNA D630029K19 JBrowse link 2 123,555,742 123,766,675 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      ALKURAYA-KUCINSKAS SYNDROME 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              Neurodevelopmental Disorders 2745
                ALKURAYA-KUCINSKAS SYNDROME 1
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