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ONTOLOGY REPORT - ANNOTATIONS


Term:microcephaly and chorioretinopathy 1
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Accession:DOID:0080105 term browser browse the term
Definition:A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. (DO)
Synonyms:exact_synonym: MCCRP1;   MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1;   Microcephaly and Chorioretinopathy with or without Mental Retardation, Autosomal Recessive;   Microcephaly and chorioretinopathy with or without mental retardation;   Microcephaly with Chorioretinopathy, Autosomal Recessive
 primary_id: MESH:C565379
 alt_id: OMIM:251270;   RDO:0014030;   RDO:9000563
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microcephaly and chorioretinopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plk4 polo-like kinase 4 JBrowse link 2 127,686,911 127,705,518 RGD:11554173
G Tubgcp4 tubulin, gamma complex associated protein 4 JBrowse link 3 113,131,292 113,160,750 RGD:11554173
G Tubgcp6 tubulin, gamma complex associated protein 6 JBrowse link 7 130,080,895 130,102,247 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Microcephaly and Chorioretinopathy 4
        microcephaly and chorioretinopathy 1 3
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    microcephaly 210
                      Microcephaly and Chorioretinopathy 4
                        microcephaly and chorioretinopathy 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.