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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 14208
    physical disorder 4807
      congenital nervous system abnormality 1443
        microcephaly 1100
          Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
Path 2
Term Annotations click to browse term
  disease 14208
    Developmental Disease 12477
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11716
        genetic disease 11437
          monogenic disease 9796
            autosomal genetic disease 9397
              autosomal dominant disease 6083
                complex cortical dysplasia with other brain malformations 1556
                  Malformations of Cortical Development, Group I 1329
                    microcephaly 1100
                      Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
paths to the root