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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
 alt_id: OMIM:607131

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Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies OMIM
ClinVar		 PMID:9689990 PMID:21552264 PMID:22587682 PMID:25741868 PMID:28492532 NCBI chrNW_004936483:15,430,735...15,450,872
Ensembl chrNW_004936483:15,431,470...15,449,067 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      bone development disease 2181
        osteochondrodysplasia 832
          Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9605
            autosomal genetic disease 8889
              autosomal dominant disease 5828
                complex cortical dysplasia with other brain malformations 1547
                  Malformations of Cortical Development, Group I 1335
                    Macrocephaly 81
                      Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
paths to the root