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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.



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microcephaly and chorioretinopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
JBrowse link
G Tubgcp4 tubulin, gamma complex associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 OMIM
ClinVar
PMID:16199547 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Microcephaly and Chorioretinopathy 5
        microcephaly and chorioretinopathy 3 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    microcephaly 1103
                      Microcephaly and Chorioretinopathy 5
                        microcephaly and chorioretinopathy 3 2
paths to the root