Search Ontology:
Human Disease
rapadilino syndrome
- Term ID
- DOID:0050774
- Synonyms
-
- 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
- References
-
- GARD:4637
- MESH:C535288
- MIM:266280
- Ontology
- Human Disease ( DOID:0050774 )
- is a type of
-
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| RECQL4 | RAPADILINO syndrome | rapadilino syndrome | 266280 |
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Zebrafish Models
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