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
Accession: DOID:9005482
browse the term
Synonyms: exact_synonym: MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT INTELLECTUAL DISABILITY
xref: OMIM:PS251270
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Tubgcp6
tubulin gamma complex component 6
ISO
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability
ClinVar
PMID:25344692 PMID:25741868 PMID:28492532
NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
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Kif11
kinesin family member 11
ISO
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1
ClinVar
PMID:25741868
NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
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Plk4
polo-like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942
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Tp53bp1
tumor protein p53 binding protein 1
ISO
ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive
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
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Tubgcp4
tubulin gamma complex component 4
ISO
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 chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437
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Tubgcp6
tubulin gamma complex component 6
ISO
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 PMID:25741868 PMID:28492532 PMID:31077665 PMID:36307859 More...
NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
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Plk4
polo-like kinase 4
ISO
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 PMID:28492532 PMID:30842647 More...
NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942
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Tp53bp1
tumor protein p53 binding protein 1
ISO
ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 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
G
Tubgcp4
tubulin gamma complex component 4
ISO
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 chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437
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