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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
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by OMIM:607131
ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
ClinVar
OMIM
PMID:9689990 PMID:21552264 PMID:22587682 PMID:25741868 PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      bone development disease 1425
        osteochondrodysplasia 478
          Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    Macrocephaly 68
                      Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
paths to the root