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

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Path 1
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  disease 14875
    syndrome 4220
      Microcephaly and Chorioretinopathy 4
        microcephaly and chorioretinopathy 1 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              uveal disease 216
                choroid disease 55
                  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.