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ONTOLOGY REPORT - ANNOTATIONS


Term:primary autosomal recessive microcephaly 13
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Accession:DOID:0070283 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. (DO)
Synonyms:exact_synonym: MCPH13
 primary_id: OMIM:616051
 alt_id: RDO:9001525
For additional species annotation, visit the Alliance of Genome Resources.


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primary autosomal recessive microcephaly 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CENPE centromere protein E JBrowse link 4 103,105,806 103,198,409 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15698
    Developmental Diseases 9178
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7929
        genetic disease 7247
          primary autosomal recessive microcephaly 27
            primary autosomal recessive microcephaly 13 1
Path 2
Term Annotations click to browse term
  disease 15698
    Developmental Diseases 9178
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7929
        Congenital Abnormalities 3725
          Nervous System Malformations 701
            complex cortical dysplasia with other brain malformations 436
              Malformations of Cortical Development, Group I 284
                microcephaly 218
                  primary microcephaly 28
                    primary autosomal recessive microcephaly 27
                      primary autosomal recessive microcephaly 13 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.