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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:exact_synonym: MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT INTELLECTUAL DISABILITY
 xref: OMIM:PS251270


show annotations for term's descendants           Sort by:
Microcephaly and Chorioretinopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBGCP6 tubulin gamma complex component 6 IAGP ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability ClinVar PMID:25344692 PMID:25741868 PMID:28492532 NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		JBrowse link
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF11 kinesin family member 11 IAGP ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:28492532 PMID:28855619 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G PLK4 polo like kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 IAGP ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr15:43,403,061...43,510,640
Ensembl chr15:43,403,061...43,510,728 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 IAGP
EXP		 ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 More... NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		JBrowse link
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129993054 ATAC-STARR-seq lymphoblastoid active region 21887 IAGP ClinVar Annotator: match by term: PLK4-related condition ClinVar PMID:25741868 PMID:28492532
G PLK4 polo like kinase 4 IAGP ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2
ClinVar Annotator: match by term: PLK4-related condition
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 | ClinVar Annotator: match by term: PLK4-related condition		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25320347 PMID:25344692 PMID:25741868 More... NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224 		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 IAGP ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3		 ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr15:43,403,061...43,510,640
Ensembl chr15:43,403,061...43,510,728 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 IAGP ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3		 OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Microcephaly and Chorioretinopathy 7
        microcephaly and chorioretinopathy 1 6
        microcephaly and chorioretinopathy 2 2
        microcephaly and chorioretinopathy 3 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal dominant disease 10884
                complex cortical dysplasia with other brain malformations 2173
                  Malformations of Cortical Development, Group I 1862
                    microcephaly 1521
                      Microcephaly and Chorioretinopathy 7
                        microcephaly and chorioretinopathy 1 6
                        microcephaly and chorioretinopathy 2 2
                        microcephaly and chorioretinopathy 3 2
paths to the root