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ONTOLOGY REPORT - ANNOTATIONS


Term:microcephaly and chorioretinopathy 3
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Accession:DOID:0080107 term browser browse the term
Definition:A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. (DO)
Synonyms:exact_synonym: MCCRP3;   Microcephaly and Chorioretinopathy, Autosomal Recessive, 3
 primary_id: OMIM:616335;   RDO:9000425
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microcephaly and chorioretinopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53bp1 tumor protein p53 binding protein 1 JBrowse link 3 113,160,030 113,259,701 RGD:8554872
G Tubgcp4 tubulin, gamma complex associated protein 4 JBrowse link 3 113,131,292 113,160,750 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14759
    syndrome 4210
      microcephaly and chorioretinopathy 3 2
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            complex cortical dysplasia with other brain malformations 416
              Malformations of Cortical Development, Group I 272
                microcephaly 208
                  microcephaly and chorioretinopathy 1 4
                    microcephaly and chorioretinopathy 3 2
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