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ONTOLOGY REPORT - ANNOTATIONS


Term:microcephaly and chorioretinopathy 3
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Accession:DOID:0080107 term browser browse the term
Definition:A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME;   MCCRP3;   Microcephaly and Chorioretinopathy, Autosomal Recessive, 3
 primary_id: OMIM:616335
 alt_id: RDO:9000425
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microcephaly and chorioretinopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53bp1 tumor protein p53 binding protein 1 JBrowse link 3 113,160,030 113,259,701 RGD:8554872
G Tubgcp4 tubulin, gamma complex associated protein 4 JBrowse link 3 113,131,292 113,160,750 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Microcephaly and Chorioretinopathy 4
        microcephaly and chorioretinopathy 3 2
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                complex cortical dysplasia with other brain malformations 527
                  Malformations of Cortical Development, Group I 377
                    microcephaly 221
                      Microcephaly and Chorioretinopathy 4
                        microcephaly and chorioretinopathy 3 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.