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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 3
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Accession:DOID:0070286 term browser browse the term
Definition:A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. (DO)
Synonyms:exact_synonym: CDK5RAP2-RELATED CONDITION;   MCPH3;   MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
 primary_id: MESH:C565746
 alt_id: OMIM:604804

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primary autosomal recessive microcephaly 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive OMIM
ClinVar		 PMID:10677332 PMID:15793586 PMID:16199547 PMID:17764569 PMID:18414213 More... NCBI chrNW_004936487:8,900,375...9,081,547
Ensembl chrNW_004936487:8,900,530...9,081,527 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14498
    physical disorder 4678
      congenital nervous system abnormality 1454
        microcephaly 1111
          primary microcephaly 44
            primary autosomal recessive microcephaly 34
              primary autosomal recessive microcephaly 3 1
Path 2
Term Annotations click to browse term
  disease 14498
    Developmental Disease 12615
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11820
        genetic disease 11503
          monogenic disease 9654
            autosomal genetic disease 8941
              autosomal dominant disease 5891
                complex cortical dysplasia with other brain malformations 1554
                  Malformations of Cortical Development, Group I 1341
                    microcephaly 1111
                      primary microcephaly 44
                        primary autosomal recessive microcephaly 34
                          primary autosomal recessive microcephaly 3 1
paths to the root