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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

GARD:496

MESH:C538183

OMIM:201170

ORDO:1788

SNOMEDCT_US_2023_03_01:720430002

UMLS_CUI:C1860119

Subsets

DO_rare_slim

Synonyms

acrofacial dysostosis, syndrome of Rodriguez [EXACT]

Parent Relationships

is_a acrofacial dysostosis

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