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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 recessive microcephaly 16
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Accession:DOID:0070289 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: MCPH16
 primary_id: OMIM:616681
 alt_id: RDO:9001137



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primary autosomal recessive microcephaly 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:30214071 More... NCBI chr12:46,418,142...46,451,304
Ensembl chr12:46,417,759...46,500,514
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    physical disorder 4941
      congenital nervous system abnormality 1482
        microcephaly 1122
          primary microcephaly 44
            primary autosomal recessive microcephaly 34
              primary autosomal recessive microcephaly 16 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          monogenic disease 10324
            autosomal genetic disease 9470
              autosomal dominant disease 6224
                complex cortical dysplasia with other brain malformations 1583
                  Malformations of Cortical Development, Group I 1371
                    microcephaly 1122
                      primary microcephaly 44
                        primary autosomal recessive microcephaly 34
                          primary autosomal recessive microcephaly 16 1
paths to the root