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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
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Accession:DOID:9005482 term browser browse the term
Synonyms:xref: OMIM:PS251270
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plk4 polo-like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM
ClinVar
NCBI chr 2:127,686,911...127,705,518
Ensembl chr 2:127,686,925...127,705,518
JBrowse link
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 16023
    syndrome 7003
      Microcephaly and Chorioretinopathy 4
        microcephaly and chorioretinopathy 1 3
        microcephaly and chorioretinopathy 2 1
        microcephaly and chorioretinopathy 3 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                complex cortical dysplasia with other brain malformations 749
                  Malformations of Cortical Development, Group I 604
                    microcephaly 438
                      Microcephaly and Chorioretinopathy 4
                        microcephaly and chorioretinopathy 1 3
                        microcephaly and chorioretinopathy 2 1
                        microcephaly and chorioretinopathy 3 2
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.