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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:Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
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Accession:DOID:9004200 term browser browse the term
Synonyms:exact_synonym: Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema;   Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema;   Schmitt Gillenwater Kelly syndrome
 primary_id: MESH:C536262
 alt_id: MIM:179250



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    physical disorder 5183
      hypospadias 87
        Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 0
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        Neurologic Manifestations 10284
          sensory system disease 7183
            mouth disease 1031
              tooth disease 457
                Tooth Abnormalities 294
                  Diastema 0
                    Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 0
paths to the root