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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:266280
ClinVar Annotator: match by term: Rapadilino syndrome
OMIM
ClinVar
PMID:10319867, PMID:10678659, PMID:12734318, PMID:12838562, PMID:12952869, PMID:17250975, PMID:18504617, PMID:18716613, PMID:22885111, PMID:23238538, PMID:24635570, PMID:25741868, PMID:25966250, PMID:28492532 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Rothmund-Thomson syndrome 3
        rapadilino syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Cardiovascular Abnormalities 1130
            congenital heart disease 1075
              heart septal defect 150
                atrial heart septal defect 94
                  rapadilino syndrome 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.