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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 15043
    Developmental Diseases 7871
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7202
        genetic disease 6577
          primary autosomal recessive microcephaly 27
            primary autosomal recessive microcephaly 11 1
Path 2
Term Annotations click to browse term
  disease 15043
    Developmental Diseases 7871
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7202
        Congenital Abnormalities 3301
          Nervous System Malformations 659
            complex cortical dysplasia with other brain malformations 406
              Malformations of Cortical Development, Group I 267
                microcephaly 204
                  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.