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ONTOLOGY REPORT - ANNOTATIONS


Term:primary autosomal recessive microcephaly 3
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Accession:DOID:0070286 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. (DO)
Synonyms:exact_synonym: MCPH3
 primary_id: MESH:C565746
 alt_id: OMIM:604804;   RDO:0014302
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primary autosomal recessive microcephaly 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 JBrowse link 5 86,387,238 86,554,108 RGD:8554872
RGD:7240710
RGD:11057920
RGD:13450905

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Path 1
Term Annotations click to browse term
  disease 15036
    Developmental Diseases 7870
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7198
        genetic disease 6569
          primary autosomal recessive microcephaly 27
            primary autosomal recessive microcephaly 3 1
Path 2
Term Annotations click to browse term
  disease 15036
    Developmental Diseases 7870
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7198
        Congenital Abnormalities 3302
          Nervous System Malformations 660
            complex cortical dysplasia with other brain malformations 407
              Malformations of Cortical Development, Group I 267
                microcephaly 204
                  primary microcephaly 28
                    primary autosomal recessive microcephaly 27
                      primary autosomal recessive microcephaly 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.