Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:rapadilino syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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 15619
    syndrome 5154
      Rothmund-Thomson syndrome 2
        rapadilino syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          Cardiovascular Abnormalities 903
            congenital heart disease 850
              heart septal defect 171
                atrial heart septal defect 58
                  rapadilino syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.