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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 Trp53bp1 transformation related protein 53 binding protein 1 JBrowse link 2 121,194,835 121,296,354 RGD:8554872
G Tubgcp4 tubulin, gamma complex associated protein 4 JBrowse link 2 121,170,643 121,198,770 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12616
    syndrome 4910
      Microcephaly and Chorioretinopathy 4
        microcephaly and chorioretinopathy 3 2
Path 2
Term Annotations click to browse term
  disease 12616
    Developmental Diseases 8639
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7413
        genetic disease 6878
          monogenic disease 4630
            autosomal genetic disease 3618
              autosomal dominant disease 2127
                complex cortical dysplasia with other brain malformations 492
                  Malformations of Cortical Development, Group I 351
                    microcephaly 220
                      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.