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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:Spondyloepimetaphyseal Dysplasia with Hypotrichosis
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Accession:DOID:9001447 term browser browse the term
Synonyms:exact_synonym: Whyte Petersen McAlister syndrome;   Whyte syndrome
 primary_id: MESH:C535783
 alt_id: RDO:0001087
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 14615
    Developmental Disease 10930
      bone development disease 1411
        osteochondrodysplasia 479
          spondyloepimetaphyseal dysplasia 79
            Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14222
      musculoskeletal system disease 6126
        connective tissue disease 4081
          bone disease 2747
            bone development disease 1411
              osteochondrodysplasia 479
                spondyloepimetaphyseal dysplasia 79
                  Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
paths to the root