OBO ID: DOID:0060383
Term Name: acrofacial dysostosis Rodriguez type Search Ontology:
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
is a type of:
OTHER acrofacial dysostosis Rodriguez type PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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