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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
 primary_id: MESH:C535288
 alt_id: OMIM:266280
 xref: GARD:4637;   ORDO:3021


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rapadilino syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome		 OMIM
CTD
ClinVar		 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 More... NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Rothmund-Thomson syndrome 2
        rapadilino syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Skin Abnormalities 1298
                Rothmund-Thomson syndrome 2
                  rapadilino syndrome 1
paths to the root