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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:Microcephalic Osteodysplastic Primordial Dwarfism, Type III
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Accession:DOID:9003653 term browser browse the term
Synonyms:exact_synonym: MOPD III;   Microcephalic Osteodysplastic Primordial Dwarfism, Type 3;   Microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type;   Microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type;   osteodysplastic primordial dwarfism, type 3;   osteodysplastic primordial dwarfism, type III
 primary_id: MESH:C537320
 alt_id: RDO:0003140
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      bone development disease 1343
        osteochondrodysplasia 446
          Microcephalic Osteodysplastic Primordial Dwarfism 2
            Microcephalic Osteodysplastic Primordial Dwarfism, Type III 0
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                complex cortical dysplasia with other brain malformations 749
                  Malformations of Cortical Development, Group I 604
                    microcephaly 438
                      Microcephalic Osteodysplastic Primordial Dwarfism 2
                        Microcephalic Osteodysplastic Primordial Dwarfism, Type III 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.