ONTOLOGY REPORT - ANNOTATIONS


Term:rapadilino syndrome
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Accession:DOID:0050774 term browser browse the term
Definition:An autosomal recessive disease 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;   RDO:0000303
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rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872

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Path 1
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  disease 14823
    syndrome 4218
      Rothmund-Thomson syndrome 1
        rapadilino syndrome 1
Path 2
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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Cardiovascular Abnormalities 780
            congenital heart disease 729
              heart septal defect 173
                atrial heart septal defect 60
                  rapadilino syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.