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rapadilino syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
Uniprot Description Disease characterized by radial and patellar aplasia or hypoplasia.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009955:  rapadilino syndrome
GARD:0004637: 
MESH:C535288: 
Orphanet:3021: 
SCTID:702413000: 
UMLS:C1849453: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)