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
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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

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Path 1
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  disease 14823
    syndrome 4218
      ALKURAYA-KUCINSKAS SYNDROME 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              Neurodevelopmental Disorders 2755
                ALKURAYA-KUCINSKAS 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.