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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
 alt_id: 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 16017
    syndrome 6141
      Microcephaly and Chorioretinopathy 4
        microcephaly and chorioretinopathy 2 1
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                complex cortical dysplasia with other brain malformations 527
                  Malformations of Cortical Development, Group I 377
                    microcephaly 221
                      Microcephaly and Chorioretinopathy 4
                        microcephaly and chorioretinopathy 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.