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primary autosomal recessive microcephaly 19 - 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:primary autosomal recessive microcephaly 19
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Accession:DOID:0070281 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. (DO)
Synonyms:exact_synonym: MCPH19
 broad_synonym: COPB2-RELATED CONDITION
 primary_id: MIM:617800

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primary autosomal recessive microcephaly 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chrNW_004624730:15,908,551...15,936,886
Ensembl chrNW_004624730:15,908,551...15,936,856 		JBrowse link
G G COPB2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chr15:51,165,275...51,197,971 JBrowse link
G P COPB2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chr13:80,220,460...80,264,808
Ensembl chr13:80,218,989...80,264,762 		JBrowse link
G S Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chrNW_004936540:1,467,169...1,493,218
Ensembl chrNW_004936540:1,467,169...1,493,258 		JBrowse link
G D COPB2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chr23:35,536,520...35,604,708
Ensembl chr23:35,536,615...35,566,569 		JBrowse link
G B COPB2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chr 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117 		JBrowse link
G C Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chrNW_004955508:6,201,989...6,231,840
Ensembl chrNW_004955508:6,201,989...6,231,845 		JBrowse link
G R Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chr 8:108,040,687...108,062,810
Ensembl chr 8:99,161,350...99,185,197 		JBrowse link
G M Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chr 9:98,445,784...98,470,428
Ensembl chr 9:98,445,774...98,470,435 		JBrowse link
G H COPB2 COPI coat complex subunit beta 2 IAGP ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive
ClinVar Annotator: match by term: COPB2-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital nervous system abnormality 15621
        microcephaly 11739
          primary microcephaly 463
            primary autosomal recessive microcephaly 340
              primary autosomal recessive microcephaly 19 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                complex cortical dysplasia with other brain malformations 16799
                  Malformations of Cortical Development, Group I 14271
                    microcephaly 11739
                      primary microcephaly 463
                        primary autosomal recessive microcephaly 340
                          primary autosomal recessive microcephaly 19 10
paths to the root