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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 4
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Accession:DOID:0070291 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. (DO)
Synonyms:exact_synonym: MCPH4
 primary_id: MESH:C565792
 alt_id: OMIM:604321


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primary autosomal recessive microcephaly 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KNL1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive OMIM
ClinVar		 PMID:10521316 PMID:18414213 PMID:22983954 PMID:25741868 PMID:26626498 More... NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital nervous system abnormality 1487
        microcephaly 1119
          primary microcephaly 44
            primary autosomal recessive microcephaly 34
              primary autosomal recessive microcephaly 4 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal dominant disease 6185
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group I 1362
                    microcephaly 1119
                      primary microcephaly 44
                        primary autosomal recessive microcephaly 34
                          primary autosomal recessive microcephaly 4 1
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