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Disease Ontology Browser
rapadilino syndrome (DOID:0050774)
Alliance: disease page
Alt IDs: OMIM:266280, MESH:C535288, ORDO:3021, UMLS_CUI:C1849453
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/17/2023
MGI 6.22
The Jackson Laboratory