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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 Mesodermal Hamartoma Spectrum
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Accession:DOID:9006361 term browser browse the term
Synonyms:exact_synonym: Elattoproteus syndrome;   Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly;   Hemihypertrophy and macrocephaly;   Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
 primary_id: MESH:C537716;   RDO:0003604
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 12618
    Developmental Diseases 8917
      bone development disease 1298
        Proteus syndrome 2
          Macrocephaly Mesodermal Hamartoma Spectrum 1
Path 2
Term Annotations click to browse term
  disease 12618
    disease of anatomical entity 12151
      Skin and Connective Tissue Diseases 4780
        connective tissue disease 3582
          bone disease 3059
            bone development disease 1298
              Proteus syndrome 2
                Macrocephaly Mesodermal Hamartoma Spectrum 1
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.