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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;   RDO:0014030
 alt_id: OMIM:251270;   RDO:9000563
For additional species annotation, visit the Alliance of Genome Resources.


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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
microcephaly and chorioretinopathy 2 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:7240710
RGD:8554872
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      microcephaly and chorioretinopathy 1 4
        microcephaly and chorioretinopathy 2 1
        microcephaly and chorioretinopathy 3 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              uveal disease 215
                choroid disease 55
                  microcephaly and chorioretinopathy 1 4
                    microcephaly and chorioretinopathy 2 1
                    microcephaly and chorioretinopathy 3 2
paths to the root