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ONTOLOGY REPORT - ANNOTATIONS


Term:primary autosomal recessive microcephaly 11
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Accession:DOID:0070287 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: MCPH11
 primary_id: OMIM:615414
 alt_id: RDO:9000940
For additional species annotation, visit the Alliance of Genome Resources.


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primary autosomal recessive microcephaly 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phc1 polyhomeotic homolog 1 JBrowse link 4 155,093,947 155,118,838 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    physical disorder 744
      congenital nervous system abnormality 304
        microcephaly 210
          primary microcephaly 28
            primary autosomal recessive microcephaly 27
              primary autosomal recessive microcephaly 11 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    microcephaly 210
                      primary microcephaly 28
                        primary autosomal recessive microcephaly 27
                          primary autosomal recessive microcephaly 11 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.