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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:Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
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Accession:DOID:9003381 term browser browse the term
Synonyms:exact_synonym: Fryns Dereymaeker Haegeman syndrome
 primary_id: MESH:C537453


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Neurodevelopmental Disorders 6845
        intellectual disability 4298
          Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal dominant disease 6310
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group I 1379
                    Macrocephaly 87
                      Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
paths to the root