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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:microcephaly and chorioretinopathy 2
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Accession:DOID:0080106 term browser browse the term
Definition:A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. (DO)
Synonyms:exact_synonym: MCCRP2;   Microcephaly and Chorioretinopathy, Autosomal Recessive, 2;   PLK4-RELATED CONDITION
 primary_id: MIM:616171
 alt_id: RDO:9001672


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microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLK4 polo like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 | ClinVar Annotator: match by term: PLK4-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25320347 PMID:25344692 PMID:25741868 More... NCBI chr 8:96,989,011...97,013,324
Ensembl chr 8:96,991,847...97,013,461 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15279
    syndrome 9958
      Microcephaly and Chorioretinopathy 6
        microcephaly and chorioretinopathy 2 1
Path 2
Term Annotations click to browse term
  disease 15279
    Developmental Disease 13226
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12301
        genetic disease 11965
          monogenic disease 10069
            autosomal genetic disease 9300
              autosomal dominant disease 6147
                complex cortical dysplasia with other brain malformations 1576
                  Malformations of Cortical Development, Group I 1357
                    microcephaly 1117
                      Microcephaly and Chorioretinopathy 6
                        microcephaly and chorioretinopathy 2 1
paths to the root