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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 32 24,447,373 24,530,407 RGD:7240710
RGD:9068941

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Term Annotations click to browse term
  disease 11436
    Developmental Diseases 7384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6739
        genetic disease 6136
          primary autosomal recessive microcephaly 26
            primary autosomal recessive microcephaly 13 1
Path 2
Term Annotations click to browse term
  disease 11436
    Developmental Diseases 7384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6739
        Congenital Abnormalities 3189
          Nervous System Malformations 648
            complex cortical dysplasia with other brain malformations 397
              Malformations of Cortical Development, Group I 260
                microcephaly 200
                  primary microcephaly 27
                    primary autosomal recessive microcephaly 26
                      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.