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Chinchilla Research Resource Database


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
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14383
    syndrome 4654
      microcephaly and chorioretinopathy 2 1
Path 2
Term Annotations click to browse term
  disease 14383
    disease of anatomical entity 13567
      nervous system disease 8645
        central nervous system disease 5900
          brain disease 5383
            complex cortical dysplasia with other brain malformations 403
              Malformations of Cortical Development, Group I 261
                microcephaly 199
                  microcephaly and chorioretinopathy 1 4
                    microcephaly and chorioretinopathy 2 1
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