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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 14924
    Developmental Diseases 7770
      bone development disease 892
        osteochondrodysplasia 402
          Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            complex cortical dysplasia with other brain malformations 405
              Malformations of Cortical Development, Group I 266
                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.