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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 25
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Accession:DOID:9003084 term browser browse the term
Definition:MCPH25 is caused by homozygous mutation in the MAP11 gene on chromosome 7q22. (OMIM)
Synonyms:exact_synonym: MCPH25
 primary_id: OMIM:618351


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Primary Autosomal Recessive Microcephaly 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC14 trafficking protein particle complex subunit 14 IAGP ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:30715179 NCBI chr 7:100,154,423...100,158,723
Ensembl chr 7:100,154,420...100,158,723 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    physical disorder 7158
      congenital nervous system abnormality 1976
        microcephaly 1528
          primary microcephaly 58
            primary autosomal recessive microcephaly 46
              Primary Autosomal Recessive Microcephaly 25 1
Path 2
Term Annotations click to browse term
  disease 35754
    Developmental Disease 28610
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24646
        genetic disease 23840
          monogenic disease 18586
            autosomal genetic disease 16857
              autosomal dominant disease 10967
                complex cortical dysplasia with other brain malformations 2181
                  Malformations of Cortical Development, Group I 1869
                    microcephaly 1528
                      primary microcephaly 58
                        primary autosomal recessive microcephaly 46
                          Primary Autosomal Recessive Microcephaly 25 1
paths to the root