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Metadata
ID	DOID:0050774
Name	rapadilino syndrome
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. https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome
Xrefs	GARD:4637 MESH:C535288 MIM:266280 ORDO:3021 SNOMEDCT_US_2023_03_01:702413000 UMLS_CUI:C1849453
Subsets	DO_rare_slim
Parent Relationships	is_a syndrome is_a autosomal recessive disease