Term Name: | acrofacial dysostosis Rodriguez type |
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Synonyms: | acrofacial dysostosis, syndrome of Rodriguez |
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. |
Ontology: | Human Disease [DOID:0060383] ( DOID:0060383 ) |