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ONTOLOGY REPORT - ANNOTATIONS


Term:Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
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Accession:DOID:9003677 term browser browse the term
Synonyms:exact_synonym: AGBK;   AL-GAZALI-BAKALINOVA SYNDROME;   MMEDF
 primary_id: MESH:C564621;   RDO:0013517
 alt_id: OMIM:607131
For additional species annotation, visit the Alliance of Genome Resources.


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Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      bone development disease 1009
        osteochondrodysplasia 414
          Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                complex cortical dysplasia with other brain malformations 492
                  Malformations of Cortical Development, Group I 347
                    Macrocephaly 54
                      Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 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.