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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: OMIM: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 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 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    physical disorder 4941
      congenital nervous system abnormality 1482
        microcephaly 1122
          primary microcephaly 44
            primary autosomal recessive microcephaly 34
              primary autosomal recessive microcephaly 19 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          monogenic disease 10324
            autosomal genetic disease 9470
              autosomal dominant disease 6224
                complex cortical dysplasia with other brain malformations 1583
                  Malformations of Cortical Development, Group I 1371
                    microcephaly 1122
                      primary microcephaly 44
                        primary autosomal recessive microcephaly 34
                          primary autosomal recessive microcephaly 19 1
paths to the root