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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;   RDO:9001672
For additional species annotation, visit the Alliance of Genome Resources.


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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

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Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      microcephaly and chorioretinopathy 2 1
Path 2
Term Annotations click to browse term
  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 2 1
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