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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 20
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Accession:DOID:9009149 term browser browse the term
Synonyms:exact_synonym: MCPH20
 broad_synonym: KIF14-RELATED CONDITION
 primary_id: OMIM:617914



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Primary Autosomal Recessive Microcephaly 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: KIF14-related condition | ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive OMIM
ClinVar
PMID:16199547 PMID:23308235 PMID:25741868 PMID:28492532 PMID:28892560 More... NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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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 20 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 20 1
paths to the root