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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Alkuraya-Kucinskas syndrome
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Accession:DOID:0111555 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1307100 similar to RIKEN cDNA D630029K19 ISO ClinVar Annotator: match by term: ALKURAYA-KUCINSKAS SYNDROME ClinVar
OMIM
PMID:25558065 PMID:25741868 PMID:29290337 NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Alkuraya-Kucinskas syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                Alkuraya-Kucinskas syndrome 1
paths to the root