Metadata | |
---|---|
ID | DOID:0060383 |
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_2023_03_01:720430002 |
Subsets |
DO_rare_slim |
Synonyms |
acrofacial dysostosis, syndrome of Rodriguez [EXACT] |
Parent Relationships |