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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 with Chemotactic Defect and Transient Hypogammaglobulinemia
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Accession:DOID:9000028 term browser browse the term
Synonyms:primary_id: MESH:C565381
 alt_id: MIM:251240


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    physical disorder 4819
      congenital nervous system abnormality 1462
        microcephaly 1107
          Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
Path 2
Term Annotations click to browse term
  disease 14316
    Developmental Disease 12568
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11797
        genetic disease 11523
          monogenic disease 9861
            autosomal genetic disease 9458
              autosomal dominant disease 6117
                complex cortical dysplasia with other brain malformations 1570
                  Malformations of Cortical Development, Group I 1340
                    microcephaly 1107
                      Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
paths to the root