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microcephaly and chorioretinopathy 2 - Ontology Report - Rat Genome Database

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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 2
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Accession:DOID:0080106 term browser browse the term
Definition:A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. (DO)
Synonyms:exact_synonym: MCCRP2;   Microcephaly and Chorioretinopathy, Autosomal Recessive, 2
 broad_synonym: PLK4-related condition
 xref: MIM:616171;   MONDO:0014516

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microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129993054 ATAC-STARR-seq lymphoblastoid active region 21887 IAGP ClinVar Annotator: match by term: PLK4-related condition ClinVar PMID:28492532 NCBI chr 4:127,880,977...127,881,216 JBrowse link
G N 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 More... NCBI chrNW_004624777:8,804,372...8,825,669
Ensembl chrNW_004624777:8,804,593...8,825,257 		JBrowse link
G G 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 More... NCBI chr 7:75,005,468...75,023,768
Ensembl chr 7:75,006,431...75,023,730 		JBrowse link
G P 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 More... NCBI chr 8:96,989,011...97,013,324
Ensembl chr 8:96,991,847...97,013,461 		JBrowse link
G S 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 More... NCBI chrNW_004936642:2,837,041...2,855,369
Ensembl chrNW_004936642:2,837,022...2,855,103 		JBrowse link
G D 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 More... NCBI chr19:13,041,739...13,060,300
Ensembl chr19:13,041,742...13,060,072 		JBrowse link
G B 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 More... NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054 		JBrowse link
G C 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 More... NCBI chrNW_004955428:13,548,485...13,566,786
Ensembl chrNW_004955428:13,549,000...13,566,516 		JBrowse link
G R 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 More... NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942 		JBrowse link
G M 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 More... NCBI chr 3:40,754,463...40,771,318
Ensembl chr 3:40,754,454...40,771,318 		JBrowse link
G H PLK4 polo like kinase 4 IAGP ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292546
    syndrome 133709
      Microcephaly and Chorioretinopathy 51
        microcephaly and chorioretinopathy 2 11
Path 2
Term Annotations click to browse term
  disease 292546
    Developmental Disease 170869
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156702
        genetic disease 151825
          monogenic disease 118484
            autosomal genetic disease 112840
              autosomal dominant disease 157741
                complex cortical dysplasia with other brain malformations 16798
                  Malformations of Cortical Development, Group I 14271
                    microcephaly 11739
                      Microcephaly and Chorioretinopathy 51
                        microcephaly and chorioretinopathy 2 11
paths to the root