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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 1
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Accession:DOID:0080105 term browser browse the term
Definition:A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. (DO)
Synonyms:exact_synonym: MCCRP1;   MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1;   Microcephaly and Chorioretinopathy with or without Mental Retardation, Autosomal Recessive;   microcephaly and chorioretinopathy with or without mental retardation;   microcephaly with chorioretinopathy, autosomal recessive
 primary_id: MESH:C565379
 alt_id: OMIM:251270
For additional species annotation, visit the Alliance of Genome Resources.


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microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:127,686,911...127,705,518
Ensembl chr 2:127,686,925...127,705,518
JBrowse link
G Tubgcp4 tubulin, gamma complex associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:113,131,292...113,160,750
Ensembl chr 3:113,131,327...113,158,720
JBrowse link
G Tubgcp6 tubulin, gamma complex associated protein 6 ISO ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without mental retardation
ClinVar
OMIM
PMID:5936364, PMID:22279524, PMID:25344692, PMID:25741868, PMID:28492532 NCBI chr 7:130,080,895...130,102,247
Ensembl chr 7:130,080,895...130,101,858
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Microcephaly and Chorioretinopathy 4
        microcephaly and chorioretinopathy 1 3
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                complex cortical dysplasia with other brain malformations 741
                  Malformations of Cortical Development, Group I 595
                    microcephaly 431
                      Microcephaly and Chorioretinopathy 4
                        microcephaly and chorioretinopathy 1 3
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.