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ONTOLOGY REPORT - ANNOTATIONS


Term:Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
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Accession:DOID:9002568 term browser browse the term
Synonyms:exact_synonym: DMJDS1;   MISSBC;   microcephaly, seizures, spasticity, and brain calcification
 primary_id: OMIM:251280
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Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh12 protocadherin 12 JBrowse link 18 31,415,533 31,431,108 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Neurodevelopmental Disorders 4190
        Diencephalic-Mesencephalic Junction Dysplasia Syndromes 2
          Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            autosomal genetic disease 3968
              autosomal dominant disease 2417
                complex cortical dysplasia with other brain malformations 503
                  Malformations of Cortical Development, Group I 357
                    microcephaly 226
                      Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.