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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:rapadilino syndrome
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Accession:DOID:0050774 term browser browse the term
Definition:A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO)
Synonyms:exact_synonym: radial and patellar aplasia;   radial and patellar hypoplasia
 xref: GARD:4637;   MESH:C535288;   MIM:266280;   MONDO:0009955;   ORDO:3021


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      Rothmund-Thomson syndrome 2
        rapadilino syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      respiratory system disease 5245
        thoracic disease 4049
          heart disease 3476
            congenital heart disease 1406
              heart septal defect 223
                atrial heart septal defect 128
                  rapadilino syndrome 1
paths to the root