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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 JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    syndrome 6144
      Rothmund-Thomson syndrome 3
        rapadilino syndrome 1
Path 2
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  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        Congenital Abnormalities 4509
          Cardiovascular Abnormalities 1091
            congenital heart disease 1040
              heart septal defect 123
                atrial heart septal defect 72
                  rapadilino syndrome 1
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