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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:A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. (DO)
Synonyms:exact_synonym: ALKKUCS
 primary_id: OMIM:617822


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Alkuraya-Kucinskas syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Alkuraya-Kucinskas syndrome OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:29290337 NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Alkuraya-Kucinskas syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                Alkuraya-Kucinskas syndrome 1
paths to the root