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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:Al Kaissi Syndrome
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Accession:DOID:9003087 term browser browse the term
Definition:An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability. (OMIM)
Synonyms:exact_synonym: ALKAS;   GROWTH RETARDATION, SPINE MALFORMATION, DYSMORPHIC FACIES, AND DEVELOPMENTAL DELAY
 primary_id: OMIM:617694
 alt_id: RDO:9004998


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Al Kaissi Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk10 cyclin-dependent kinase 10 ISO ClinVar Annotator: match by term: Al Kaissi syndrome OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28886341 PMID:29130579 NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Al Kaissi Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18310
        Congenital Abnormalities 7432
          Multiple Abnormalities 3608
            Al Kaissi Syndrome 1
paths to the root