| Metadata | |
|---|---|
| ID | DOID:0060383 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060383 Copy |
| Name | acrofacial dysostosis Rodriguez type |
| Definition | An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type |
| Xrefs |
SNOMEDCT_US_2025_09_01:720430002 |
| Subsets |
DO_rare_slim |
| Synonyms |
acrofacial dysostosis, syndrome of Rodriguez [EXACT] |
| Parent Relationships |