ONTOLOGY REPORT - ANNOTATIONS


Term:primary autosomal recessive microcephaly 6
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Accession:DOID:0070290 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. (DO)
Synonyms:exact_synonym: MCPH6
 primary_id: MESH:C564247
 alt_id: DOID:9003789;   OMIM:608393;   RDO:0013273
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primary autosomal recessive microcephaly 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:8554872
RGD:7240710
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872

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  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          primary autosomal recessive microcephaly 28
            primary autosomal recessive microcephaly 6 2
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        Congenital Abnormalities 3207
          Nervous System Malformations 673
            complex cortical dysplasia with other brain malformations 424
              Malformations of Cortical Development, Group I 276
                microcephaly 209
                  primary microcephaly 29
                    primary autosomal recessive microcephaly 28
                      primary autosomal recessive microcephaly 6 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.