FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term acrofacial dysostosis Rodriguez type ID (Ontology) DOID:0060383 (Human Disease)
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.
Also Known As "acrofacial dysostosis, syndrome of Rodriguez"
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  dysostosis
   |__acrofacial dysostosis
       |__acrofacial dysostosis Rodriguez type
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Synonyms
  • "acrofacial dysostosis, syndrome of Rodriguez" EXACT
Secondary IDs
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GARD:496
MESH:C538183
MIM:201170
ORDO:1788
SNOMEDCT_US_2023_03_01:720430002
UMLS_CUI:C1860119