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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:MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
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Accession:DOID:9002787 term browser browse the term
Synonyms:exact_synonym: MACID;   MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION;   acquired macrocephaly with impaired intellectual development
 pimary_id: OMIM:618286
For additional species annotation, visit the Alliance of Genome Resources.


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MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfib nuclear factor I/B ISO ClinVar Annotator: match by term: MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION
ClinVar Annotator: match by term: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar
OMIM
PMID:25741868 PMID:30388402 NCBI chr 5:100,436,343...100,647,962
Ensembl chr 5:100,439,082...100,647,727
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        intellectual disability 3388
          MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          monogenic disease 6354
            autosomal genetic disease 5505
              autosomal dominant disease 3758
                complex cortical dysplasia with other brain malformations 1164
                  Malformations of Cortical Development, Group I 1024
                    Macrocephaly 61
                      MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 1
paths to the root