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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:autosomal dominant microcephaly
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Accession:DOID:14725 term browser browse the term
Definition:A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene. (DO)
Synonyms:exact_synonym: microcephaly with autosomal dominant inheritance
 primary_id: MESH:C537323
 alt_id: OMIM:156580
For additional species annotation, visit the Alliance of Genome Resources.


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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 | ClinVar Annotator: match by term: WDFY3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27008544 PMID:28492532 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 18969
    physical disorder 4965
      congenital nervous system abnormality 1496
        microcephaly 1130
          autosomal dominant microcephaly 1
            primary autosomal dominant microcephaly 18 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group I 1379
                    microcephaly 1130
                      autosomal dominant microcephaly 1
                        primary autosomal dominant microcephaly 18 1
paths to the root