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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

OMIM: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

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