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ONTOLOGY REPORT - ANNOTATIONS


Term:primary autosomal recessive microcephaly 2 with or without cortical malformations
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Accession:DOID:0070293 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: MCPH2;   Microcephaly, Primary Autosomal Recessive, 2;   PRIMARY MICROCEPHALY 2 WITH OR WITHOUT CORTICAL MALFORMATIONS
 narrow_synonym: MICROCEPHALY, CORTICAL MALFORMATIONS, AND INTELLECTUAL DISABILITY
 primary_id: MESH:C565794
 alt_id: DOID:9000187;   OMIM:604317;   RDO:0014339
For additional species annotation, visit the Alliance of Genome Resources.


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primary autosomal recessive microcephaly 2 with or without cortical malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:8554872
RGD:7240710
RGD:11537472
RGD:11537473
RGD:11537475

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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          primary autosomal recessive microcephaly 28
            primary autosomal recessive microcephaly 2 with or without cortical malformations 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        Congenital Abnormalities 3207
          Nervous System Malformations 673
            complex cortical dysplasia with other brain malformations 424
              Malformations of Cortical Development, Group I 276
                microcephaly 209
                  primary microcephaly 29
                    primary autosomal recessive microcephaly 28
                      primary autosomal recessive microcephaly 2 with or without cortical malformations 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.