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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14025
    syndrome 4467
      microcephaly and chorioretinopathy 2 1
Path 2
Term Annotations click to browse term
  disease 14025
    disease of anatomical entity 13238
      nervous system disease 8245
        central nervous system disease 5483
          brain disease 5121
            complex cortical dysplasia with other brain malformations 382
              Malformations of Cortical Development, Group I 252
                microcephaly 194
                  microcephaly and chorioretinopathy 1 4
                    microcephaly and chorioretinopathy 2 1
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