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ONTOLOGY REPORT - ANNOTATIONS


Term:Microcephalic Osteodysplastic Primordial Dwarfism
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Accession:DOID:9002954 term browser browse the term
For additional species annotation, visit the Alliance of Genome Resources.


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Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:8554872
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clasp1 cytoplasmic linker associated protein 1 JBrowse link 13 34,365,038 34,584,651 RGD:8554872
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:7240710
RGD:8554872
RGD:11537400
RGD:11537401
RGD:11537402
RGD:11537403

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      bone development disease 980
        osteochondrodysplasia 406
          Microcephalic Osteodysplastic Primordial Dwarfism 2
            Microcephalic Osteodysplastic Primordial Dwarfism, Type III 0
            microcephalic osteodysplastic primordial dwarfism type I 1
            microcephalic osteodysplastic primordial dwarfism type II 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                complex cortical dysplasia with other brain malformations 477
                  Malformations of Cortical Development, Group I 334
                    microcephaly 206
                      Microcephalic Osteodysplastic Primordial Dwarfism 2
                        Microcephalic Osteodysplastic Primordial Dwarfism, Type III 0
                        microcephalic osteodysplastic primordial dwarfism type I 1
                        microcephalic osteodysplastic primordial dwarfism type II 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.