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RGD uses the Human Disease Ontology (DO, 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:An autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature. (OMIM)
Synonyms:exact_synonym: MCCRP2;   Microcephaly and Chorioretinopathy, Autosomal Recessive, 2
 primary_id: OMIM:616171
 alt_id: RDO:9001672
For additional species annotation, visit the Alliance of Genome Resources.

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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, autosomal recessive, 2 OMIM
NCBI chr 2:127,686,911...127,705,518
Ensembl chr 2:127,686,925...127,705,518
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Microcephaly and Chorioretinopathy 5
        microcephaly and chorioretinopathy 2 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                complex cortical dysplasia with other brain malformations 754
                  Malformations of Cortical Development, Group I 608
                    microcephaly 444
                      Microcephaly and Chorioretinopathy 5
                        microcephaly and chorioretinopathy 2 1
paths to the root