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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:CK syndrome
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Accession:DOID:0111898 term browser browse the term
Definition:A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in NSDHL on chromosome Xq28. (DO)
Synonyms:exact_synonym: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome;   X-linked mental retardation with thin body habitus and cortical malformation
 primary_id: OMIM:300831
 alt_id: DOID:9002836
 xref: ORDO:251383


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CK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: CK syndrome OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:21290788 PMID:25741868 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      CK syndrome 1
Path 2
Term Annotations click to browse term
  disease 21086
    Developmental Disease 18380
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18236
        genetic disease 18173
          monogenic disease 10153
            autosomal genetic disease 9294
              autosomal dominant disease 6201
                complex cortical dysplasia with other brain malformations 1575
                  Malformations of Cortical Development, Group I 1362
                    microcephaly 1117
                      CK syndrome 1
paths to the root