ONTOLOGY REPORT - ANNOTATIONS


Term:primary autosomal recessive microcephaly 19
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Accession:DOID:0070281 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. (DO)
Synonyms:exact_synonym: MCPH19
 primary_id: OMIM:617800
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primary autosomal recessive microcephaly 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          primary autosomal recessive microcephaly 28
            primary autosomal recessive microcephaly 19 1
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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Nervous System Malformations 664
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                microcephaly 209
                  primary microcephaly 29
                    primary autosomal recessive microcephaly 28
                      primary autosomal recessive microcephaly 19 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.