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Human Disease

acrofacial dysostosis Rodriguez type

Term ID
DOID:0060383
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. https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type
References
Ontology
Human Disease   ( DOID:0060383 )
Relationships
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Genes Involved
Zebrafish Models
Citations