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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:primary autosomal recessive microcephaly 17
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Accession:DOID:0070288 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: MCPH17
 primary_id: OMIM:617090


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primary autosomal recessive microcephaly 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron rho-interacting serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25741915 PMID:27453578 PMID:27453579 PMID:27503289 More... NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital nervous system abnormality 1489
        microcephaly 1124
          primary microcephaly 44
            primary autosomal recessive microcephaly 34
              primary autosomal recessive microcephaly 17 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                complex cortical dysplasia with other brain malformations 1588
                  Malformations of Cortical Development, Group I 1373
                    microcephaly 1124
                      primary microcephaly 44
                        primary autosomal recessive microcephaly 34
                          primary autosomal recessive microcephaly 17 1
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