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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:primary autosomal dominant microcephaly 18
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Accession:DOID:0070295 term browser browse the term
Definition:A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. (DO)
Synonyms:exact_synonym: MCPH18;   WDFY3-RELATED CONDITION
 primary_id: OMIM:617520


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primary autosomal dominant microcephaly 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:27008544 PMID:31327001 NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    physical disorder 4974
      congenital nervous system abnormality 1499
        microcephaly 1131
          primary microcephaly 45
            primary autosomal dominant microcephaly 18 1
Path 2
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13005
          monogenic disease 10428
            autosomal genetic disease 9587
              autosomal dominant disease 6327
                complex cortical dysplasia with other brain malformations 1599
                  Malformations of Cortical Development, Group I 1381
                    microcephaly 1131
                      primary microcephaly 45
                        primary autosomal dominant microcephaly 18 1
paths to the root