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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, autosomal recessive, 3 ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr 3:113,160,030...113,259,701
Ensembl chr 3:113,160,000...113,231,790
JBrowse link
G Tubgcp4 tubulin, gamma complex associated protein 4 ISO ClinVar Annotator: match by OMIM:616335
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr 3:113,131,292...113,160,750
Ensembl chr 3:113,131,327...113,158,720
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Microcephaly and Chorioretinopathy 4
        microcephaly and chorioretinopathy 3 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                complex cortical dysplasia with other brain malformations 707
                  Malformations of Cortical Development, Group I 564
                    microcephaly 410
                      Microcephaly and Chorioretinopathy 4
                        microcephaly and chorioretinopathy 3 2
paths to the root