ONTOLOGY REPORT - ANNOTATIONS


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
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Microcephaly and Chorioretinopathy 4
        microcephaly and chorioretinopathy 2 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              uveal disease 216
                choroid disease 55
                  Microcephaly and Chorioretinopathy 4
                    microcephaly and chorioretinopathy 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.