| 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 |
SNOMEDCT_US_2023_03_01:702413000 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some diarrhea |