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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:Bird Headed Dwarfism Montreal Type
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Accession:DOID:9008368 term browser browse the term
Synonyms:exact_synonym: Bird-headed dwarfism with features of premature senility;   MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE
 primary_id: MESH:C535448
 alt_id: OMIM:210700



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      progeroid syndrome 27
        progeria 20
          Bird Headed Dwarfism Montreal Type 0
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        Congenital Abnormalities 7581
          Musculoskeletal Abnormalities 3302
            Craniofacial Abnormalities 2657
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  Micrognathism 53
                    Bird Headed Dwarfism Montreal Type 0
paths to the root